Human Developmental Biology Resource (HDBR)

HDBR Project Title Institution Project Status Publication

Unraveling mechanisms of genome regulation to understand and improve human health

University of Connecticut Health Centre, Department of Genetics and Genome Sciences

Ongoing 200310

Understanding the molecular pathways of ocular and orbital tissue fusion in early human development 

University College London, Institute of Ophthalmology 

Ongoing 200293

Understanding how mitochondrial DNA changes during differentiation: comparison of stem cells and foetal tissue 

University of Bergen, Department of Neurology, Haukeland University Hospital

Ongoing 200286

Uncovering novel genes underlying hearing loss

King's College London, Craniofacial Development and Stem Cell Biology, London

Ongoing 200322

Transcriptional control of dopamine neuron subtype specification in humans 

MRC Toxicology Unit, Hodgkin Building, Leicester

Ongoing 200258

The role of carbohydrates in brain development 

University of Edinburgh

Ongoing 200283

TBX1 Human Expression 

University College London, GOS Institute of Child Health

Ongoing 200319

Subplate zone of the human brain: unsolved problems 

University of Zagreb, Croatian Institute for Brain Research, School of MedicineSalata 12, Croatia, 10000 

Ongoing

Studying the interactions between blood vessels and neurogenesis 

University College London, Institute of Child Health, Newlife Birth Defects Research Centre, Developmental Biology & Cancer Programme

Ongoing

Study of intellectual disability genes in human brain development 

The Francis Crick Institute, Mill Hill Laboratory, The Ridgeway, Mill Hill

Ongoing

Role of WDR11 in hypogonadotrophic hypogonadism and Kallmann syndrome 

St. George's Medical School, Cranmere Terrace, London, SW17 0RE

Ongoing

Role of the primary lymphoedema genes in lymphatic development

St George's Medical School, University of London,Molecular and Clinical Sciences

Ongoing

Role of subplate neurosecretion in early cortical circuit formation. 

University of Oxford, Department of Physiology, Anatomy and Genetics

Ongoing

Neuronal differentiation pathways in the human telencephalon 

Newcastle University, Institute of Neuroscience

Ongoing 200288

Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.

 

Molecular and structural assessment of cardiogenesis 

Newcastle University, Institute of Genetic Medicine

Ongoing

Molecular anatomy of the developing human kidney

University of Southern California, 1425 San Pablo St., BCC 311, Los Angeles, CA90033

Ongoing

Mechanisms underlying neuronal loss in human stem cell models of Down's syndrome

University College London, Institute of Child Health

Ongoing

Mapping the Developing Human Neocortex by Massively Parallel Single Cell Analysis

University of California, William Walantus

Ongoing

Investigation of the Palatal Uvula 

University College London, Institute of Child Health

Ongoing

Investigation of genetic and epigenetic regulation underlying human neural tube defects

University College London, Institute of Child Health

Ongoing

Investigation of ciliopathy syndrome secondary to CEP164 mutations 

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Ongoing

Investigating the role of extracellular matrix in human neocortical development. 

Max Planck Institute of Molecular Cell Biology & Genetics, MPI-CBG, Pfotenhauerstr. 108

Ongoing

Investigating the molecular pathology of developmental macular dystrophies  

University College London, Moorfields Eye Hospital

Ongoing

Investigating the initiation of the first heartbeat

University of Oxford, Department of Physiology, Anatomy and Genetics

Ongoing

Investigating the human expression of ALX4 in the developing embryonic skeleton 

Dr Willie Reardon, Our Lady's Children's Hospital, Crumlin, Dublin

Completed

Investigating perinatal brain injury and repair 

University of Edinburgh, The Queen's Medical Research Institute, 47 Little France Crescent 

Completed

Investigating neural crest defects in Turner syndrome 

University College London, Institute of Child Health, 30 Guilford Street

Ongoing

Investigating human haematopoietic stem cells and their regulation via the stroma microenvironment during foetal development  

The Francis Crick Institute, 44 Lincoln's Inn Fields, London

Ongoing

Investigating gene expression of human embryonic/fetal heart and lung in order to define cell populations using single cell RNA sequencing and flow cytometry. 

University of Southampton, Human Development and Health Academic Unit Institute of Developmental Sciences

Ongoing

Investigating and documenting human eye development 

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Ongoing

Immune Cells in Inflammatory Bowel Disease 

King's College London, MRC Centre for Transplantation, Guy's Hospital

Ongoing

Identification of the fetal target progenitor(s) in childhood leukaemia 

University College London, Cancer Institute

Ongoing

Identification of molecular regulators of human amniotic epithelial fate 

University of Cambridge, Physiological Laboratory, Department of Physiology, Developmental and Neuroscience

Ongoing

Identification of cell types and their embryonic origin in the developing human urethra.

University of Florida, 2033 Mowry Road, Gainesville

Ongoing

Human fetal cell atlas

Newcastle University, Institute of Genetic Medicine

Ongoing

Human embryology & early fetal development: interaction with the Hanley Lab research programme 

University of Manchester, AV Hill Building, Oxford Road, Manchester, M13 9PT

Ongoing

Histological analysis of normal foetal cerebellar development 

Seattle Children's Research Institute

Ongoing

Genomic trajectories across human fetal development 

University of Exeter, RILD Building, Royal Devon & Exeter Hospital Campus

Ongoing

Genomic, cellular and developmental reconstruction of infant MLL-AF4+ acute lymphoblastic leukemia 

University of Barcelona, Josep Carreras Leukaemia Research Institute, Facultat de Medicina

Ongoing

Generating genome-wide maps of tissue-specific human enhancers active during tissue development. 

Lawrence Berkeley National Laboratory 

Ongoing

Gene expression profiling of normal human fetal cerebellar development 

Seattle Children's Research Institute, 1900 9th Avenue, Seattle, Washington State 

Ongoing

Gene expression analysis of a novel gene for human primary ciliary dyskinesia, PIH1D3.

University College London, Institute of Child Health, Genetics and Genomic Medicine, 30 Guilford St

Ongoing

Gene expression analysis during heart development. 

Newcastle University, Instiute of Genetic Medicine

Ongoing

Further investigation in to the development of haematopoietic stem cells in the human embryo 

University of Edinburgh, The University Court of The University of Edinburgh, Old College, South Bridge

Ongoing

Extracellular matrix in the midbrain 

University of Edinburgh, MRC Centre of Regenerative Medicine

Ongoing

Expression study of a new gene involved in pontocerebellar hypoplasia 

INSERM UMR1163, Institut IMAGINE, Paris

Ongoing 200298

Expression of Rapgef5 

King's College London

Ongoing 200308

Expression analyses of genes involved in endocrine development  

Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute

Ongoing

Expression analysis of genes in human fetal forebrain that are implicated in psychiatric disorders

University of Minnesota, Minneapolis

Completed

Epigenomic changes in the developing human brain 

Cardiff University, School of Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics

Ongoing

Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.

 

Epigenetic signatures in fetal development

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

Documenting differences in gene expression during human tooth development to understand the evolution of the primate dentition. 

University of Florida, PO Box 103610, 2033 Mowry Road

Completed

Differentiation of human fetal osteoblasts 

University College London, The Institute of Women's Health, Lab based at the Institute of Child Health (ICH)

Ongoing

Development of the retinal fovea 

Harvard Medical School, Department of Genetics, NRB Room, 36077 Avenue, Louis Pasteur

Ongoing 200269

Fgf8 Expression and Degradation of Retinoic Acid Are Required for Patterning a High-Acuity Area in the Retina

 

CYP21A2 and CYP21A1P protein expression in human embryos 

Newcastle University, Institute of Genetic Medicine,International Centre for Live

Ongoing

Comparison of human foetal DRG, human adult DRG and iPSC-derived neurons. 

Pfizer, Neusentis/Neuroscience & Pain (Pfizer Ltd), The Portway Building (formerly UCB), Granta Park, Great Abington 

Completed

Comparative expression of human neurodevelopment genes in developing brain and brain organoids 

University of Cambridge, MRC Laboratory of Molecular Biology

Completed

Characterizing mosaicism and developmental abnormalities in human embryos with sex chromosome aneuploidies 

Whitehead Institute for Biomedical Research and Howard Hughes Medical Institute, Cambridge, Massachusetts

Ongoing 200281

Characterisation of foregut submucosal glands during human development

University of Oxford, Ludwig Institute for Cancer Research

Ongoing 200321

Cardiac inflow in human embryos 

Newcastle University, Institute of Genetic Medicine, International Centre for Life 

Complete 200101

Biodiversity Gallery

 

Hong Kong Science Museum 

Completed 200255

An investigation of human mesenteric and peritoneal development.

University of Limerick, Castletroy, Ireland

Ongoing 200330

Analysing AGR2 protein expression during human development 

Barts Cancer Institute, Molecular Oncology Centre, Queen Mary University of London, John Vane Science Centre 

Ongoing 200259

3D atlas of human embryonic brain development

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200083

The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain.

Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor

Building brains in a dish: Prospects for growing cerebral organoids from stem cells.

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

 

 

 

 

 

Understanding the genetic mechanisms of diabetes mellitus and sensorineural deafness

University College London, Institute of Child Health

Completed 200212

Underpinning epithelial stem cell science for regenerative therapies

University College London, Institute of Child Health

Ongoing 200249

Undergraduate Project: Investigating differential expression of nFATC1 exon 1A/1B isoforms in foetal heart.

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200242

Transcriptomic profiling from human embryonic left-side versus right-side midbrain and forebrain

Max Planck Institute for Psycholinguistics

Completed 200260

Transcriptomic profiling from human embryonic left-side versus right side brainstem and spinal cord.

Max Planck Institute for Psycholinguistics, Radboud University, Nijmegen

Completed 200206

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

 

Tooth tissue engineering

King's College London

Ongoing 200095

PKA regulatory subunit expression in tooth development.

In-vitro regulation of odontogenic gene expression in human embryonic tooth cells and SHED cells.

 

Three-dimensional and molecular analysis of the development of the human heart

University of Amsterdam, Department of Anatomy, Embryology & Physiology, academic Medical Centre

Completed 200114

Molecular analysis of patterning of conduction tissues in the developing human heart. 

The role of Notch signalling in progenitor cell fate choice and segmentation in the early vertebrate embryo.

University of Dundee, College of Life Sciences

Completed 200228

The roles of non-coding and protein coding genes in the evolutionary expansion of the cerebral cortex

University of Oxford, Dept of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX

Completed 200091

The role of human fetal antigen presenting cells in tolerance and immunity

Newcastle University, Institute of Cellular Medicine Human Dendritic Cell Laboratory, Haematological Sciences, Ground Floor Leech Building The Medical School

Completed 200203

The role of Human DLG3 in the causation of Mental Retardation

University of Cambridge, Cambridge Institute of Medical Research, Wellcome /MRC Building, Addenbrookes Hospital

Completed 200048

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

The role of Grainyhead-like 2 in human embryonic development 

Monash University, Central Clinical School AMREP, Alfred Hospital, Prahran

Completed 200252

The role of ECM/integrin interactions in detrusor development

University College London

 

Completed 10102

Microarray interrogation of human metanephric mesenchymal cells highlights potentially important molecules in vivo.

 

The role of Arylamine N-acetyltransferases in the closure of the embryonic neural tube.

University of Oxford, Department of Pharmacology Mansfield Road

Completed 200013

The potential of a muscle troponin T gene in the analysis of human cardiac myopathies and its possible use as a diagnostic marker

The Royal Veterinary College, Dept of Basic Sciences, Royal College Street, London

Completed 10062

The slow skeletal muscle troponin T gene is expressed in developing and diseased human heart

The human fetal liver: development and response to maternal drug use

University of Aberdeen, Division of Applied Medicine, Institute of Medical Sciences, Foresterhill

Ongoing 200219

The pathomechanisms underlying malformations and disease of the great arteries

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200199

The germ stem cell niche in the human fetal testis and the origins of testicular cancer

Queens Medical Research Institute, Room C1.26, 47 Little France Crescent

Ongoing 200209

Ibuprofen results in alterations of human fetal testis development

The genetics of congenital melanocytic naevi

University College London, Institute of Child Health 30 Guilford Street

Ongoing 200205

The epidermoid formation and its affinity to congenital cholesteatoma

University College London

Completed 10064

Immunohistochemical characterisation of the epidermoid formation in the middle ear

The Effect of Ureteropelvic junction obstruction on Pax2 and TGFb2 expression in the renal pelvis

Manchester University

Completed 10083

Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction

Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations.

 

The dynamics of human embryonic gut gene expression for understanding Hirschsprung disease

John Hopkins School of Medicine, McKusick-Nathans Institute of Genetic Medicine

Ongoing 200239

Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.

 

The developmental biology and function of human foetal pancreatic beta cells

University College London, 30 Guilford Street, London

Completed 10093

Low levels of glucose transporters and K+ATP channels in human pancreatic beta cells early in development

 

The development of the pulmonary vasculature and its relationship to the developing heart

St. George's Medical School, Dept of Anat & Dev Biol, St Georges Hospital Medical School, Cranmer Terrace, London

Completed 10079

Regulation of bone morphogenetic protein signalling in human pulmonary vascular development

TFAP2A expression in the developing human eye

University of Oxford, Department of Human Anatomy and Genetics

Completed 10159

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Sweat Gland Development

Rockefeller University

Completed

Sulf1/Sulf2 gene expression in developing human muscle

The Royal Veterinary College, Dept of Basic Sciences, Royal College Street, London

Completed

Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort

Sulf2 gene is alternatively spliced in mammalian developing and tumour tissues with functional implications

Mammalian Sulf1 RNA alternative splicing and its significance to tumour growth regulation.

Studying somatic stem cell plasticity and neural development in the context of tissue damage and repair

University College London, Institute of Child Health, 30 Guildford Street

Ongoing

A matter of identity - Phenotype and differentiation potential of human somatic stem cells.

 

Study of genes causing abnormal cortical development

INSERM Unit 491, Faculty of Medicine Merseilles, Team "Genetics of mental retardation and cortical malformations", Faculty of Medicine La Timone 27, Bd. Jean Moulin

Completed

Truncation of NHEJ1 in a patient with polymicrogyria

Specification of serotonergic nuclei in human brain development

Boston Children's Hospital, 300 Longwood Avenue Mailstop BCH3150

Ongoing

Spatiotemporal expression profile of SRPK3

University of Leicester, Robert Kilpatrick Clinical Sciences Building Leicester Royal Infirmary

Completed

Spatial and Temporal expression studies of the novel FRMD7 gene

Leicester Royal Infirmary, Robert Kilpatrick Clinical Sciences Building

Completed

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Abnormal retinal development associated with FRMD7 mutations

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

 

Skeletal Cell Differentiation and Tissue Engineering

University of Southampton, Bone & Joint Research Group Mailpoint 887. Human Development & Health, Institute of Developmental Sciences Tremona Road

Ongoing

SIX3 and SIX6 in human eye development

University College London, Institute of Opthalmology, Department of Pathology, 11-43 Bath Street

Completed

Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18

Single cell RNA-seq analysis of allele-specific expression in human foetal brain

King's College London, The James Black Centre

Completed

RIM1 in human brain development and function

University College London, Department of Experimental Epilepsy, Institute of Neurology, National Hospital for Neurology and Neuroscience

Completed

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

RhoGAP3 - a novel gene with a putative role in mental retardation/cognition.

University of Heidelberg, Im Neuenheimer Feld 328

Completed

Quality control and resource optimization

Newcastle University, Institute of Human Genetics, International Centre for Life

Completed

Enabling research with human embryonic and fetal tissue resources.

MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expression.

 

Proliferation status of human pancreatic progenitors 

MRC Centre for Regenerative Medicine, SCRM Building, The University of Edinburgh

Completed

Production of stem cell populations from umbilical cord blood for regenerative medcine

Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway

Completed

Primary human liver cell model for viral infection

University of Oxford, Peter Medawar Building for Pathogen Research South Parks Road

On Hold 200208

Tumor Necrosis Factor Inhibits Spread of Hepatitis C Virus Among Liver Cells, Independent from Interferons.

PLEKHG6 isoform 3, a primate specific mediator of cerebral corticogenesis

University of Otago, Dunedin School Medicine, P O Box 56

Ongoing

Origin of Cortical Species-specific Distinctions

Yale University, School of Medicine 333 Cedar Street

Ongoing

Ontological development of the coagulation system.

University College London, Cancer Institute

Completed

Ocular Coloboma and Childhood Blindness: Investigating Molecular Pathways

University College London, Institute of Child Health 30 Guilford Street

Ongoing

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Novel Genes Affecting the Timing of Puberty

Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute

Completed

Molecular basis of brain and facial development

Harvard Medical School, Neurology Department NRB 266 77 Avenue Louis Pasteur

Completed

A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid

Molecular and Epigenetic analysis of the human autistic brain

Bar-Ilan University, Faculty of Medicine, Hanrietta Sold 8 Safed 13215

Completed

Mesenchymal Stem Cells and Corneal Regeneration

University of Nottingham, Academic Ophthalmology, B Floor, Eye and ENT Centre, QMC University Hospital

Completed

Mechanistic insights into genetic variants associated with congenital heart disease.

University of Manchester, Institute of Cardiovascular Sciences, 3rd Floor, Core Technology Facility, 46 Grafton Street

Ongoing

Mechanisms of vertebrate limb development and disease.

King's College London, Randall Division Guy's Campus

Ongoing

Mapping neuronal structures associated with the developing human lower urinary tract.

University of Melbourne, Department of Anatomy and Neuroscience

Completed

LRRTM1 expression in developing brain

University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford

Completed

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia

LMX1A a mediator of cerebral corticogenesis

University of Otago, Dunedin School of Medicine, P O Box 56

Ongoing

Jouberin expression in foetal brain, kidney and eye.

Newcastle University, International Center for Life, Newcastle Upon Tyne

Completed

Investigating embryonic expression patterns and evolution of AHI1

Is hepatocyte nuclear factor-1 beta expressed in early human organogenesis?

Manchester University

Completed

Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development

Expression of hepatocyte growth factor/scatter factor and its receptor, MET, suggests roles in human embryonic organogenes

Investigation of the signalling mechanisms involved in the development of intrinsic ganglia within the human lung

University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London

Completed

Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract

Investigation of the origin of trisomy 16 and trisomy 22

Newcastle upon Tyne Hospital Trust, Cytogenetics, Institute of Genetic Medicine, International Centre for Life

Completed

Origin of trisomy: no evidence to support the ovarian mosaicism theory

Investigation of the genetic aetiology of intrauterine growth

Imperial College London, 4th Floor IRDB Hammersmith Site Du Cane Road W12 0NN

Completed

Transcript and tissue specific imprinting of a tumour suppressor gene

Investigation of expression of candidate genes for congenital heart disease

University of Southampton, Division of Human Genetics, Duthie Building, Tremona Road, Southampton General Hospital,

Completed

Narrowing the Critical Region within 11q24-qter for Hypoplastic Left Heart and Identification of a Candidate Gene, JAM3, Expressed during Cardiogenesis

Investigating the role of the UPF3B gene and nonsense mediated RNA decay (NMD) in mental retardation

Women's and Children's Hospital, Neurogenetics Laboratory, Department of Genetic Medicine

Completed

Transcriptome profiling of UPF3B/NMD - deficient lymphoblastoid cells from patients with various forms of intellectual disability

Investigating the role of the sonic hedgehog pathway during eye development

Oxford University, Department of Human Anatomy and Genetics

Completed

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

Investigating the expression of Irx1 in human embryonic limbs

Univesity of Bath, Department of Bology and Biochemistry

Completed

Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos

 

 

Investigating Expression Patterns of candidate genes for Congenital heart Disease, localisaton

University of Southampton, Human Development and Health Academic Unit, Institute of Developmental Sciences, Southhampton General Hospital

Completed

INSM1 & INSM2 in human development, evolution and disease

Northwestern University of Feingerg, Chicago, IL

Completed

Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis

Immunocytochemical characterisation of olfactory ensheathing cells in the developing human olfactory system

University College London, Institute of Neurology,e

Completed

Common olfactory ensheathing glial markers in the developing human olfactory system

 

Identification of tissue-specific human enhancers active during craniofacial development

University of California, 1 Cryclotron Road MS84-171 Berkeley,

Completed

Identification of splicing events specific to childhood cancers using High Throughput Sequencing

Newcastle University, International Centre for Life, Newcastle Upon Tyne

Completed

Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant

Identification of markers for cross-stage comparison in brain and heart

Newcastle University, Institute of Human Genetics, International Centre for Life

Completed

From spatial-data to 3D models of the developing human brain

 

Identification of human orofacial enhancers and their role in orofacial clefts

University of Connecticut

Ongoing

Identification of cell types in the embryonic and adult human urothelium

Columbia University, Medical Centre ICRC 1130 Saint Nicholas Avenue Mail Code: Room 311

Ongoing 200215

Characterizing development of the human lower urinary tract: anatomic features and molecular expression of the ureteric bud and cloaca.

How do antiphospholipid antibodies affect trophoblast cells in physiological hypoxia?

University College London, Centre for Rheumatology Research

Completed

High-throughput Genomics and Transcriptomics of fetal and embryonic tissues

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

 

Hepatocyte Growth Factor (HGF) and c-met (its recptor) expression in early liver development

University of Birmingham, Division of Reproductive & Child Health Birmingham Women's Hospital Edgbaston

Completed

Differences between human and mouse alpha-fetoprotein expression during early development

Genomic imprinting and epigenetic analysis of embryonic development

King's College London, Department of Medical and Molecular Genetics

Completed

Generation and transplantation of pluripotent stem cell-derived photoreceptor precursors

University College London, Institute of Ophthalmology

Ongoing

Gene identification for Silver Russell Syndrome

King's College London, Department of Medical and Molecular Genetics

Completed

Transcript- and tissue-specific imprinting of a tumour suppressor gene

Gene Expression in Neurodegeneration with Brain Iron Accumulation

Oregon Health and Sciences University, 3181 SW Sam Jackson Park Road Mailcode L103a Portland

Completed

Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy

Gene expression in left ventricular outflow tract development

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Ongoing

Further investigation of CDH8 as an autism candidate gene

Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington

Completed

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8)

Functional characterisation of Mecklin (MKS3)

St. James's University Hospital, Section of Ophthalmology and Neurosciences, Wellcome Trust, Brenner Building, Leeds Institute of Molecular Medicine

Completed

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

 

Forebrain patterning in human embryos

University College London, Neural Development Unit, Institute of Child Health

Completed

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

Folate metabolism during embryonic development

University College London, Institute of Child Health, Neural Development Unit

Completed

Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain

Expression studies of genes associated with mental retardation and other developmental brain disorders

Harvard Medical School, Neurology Department NRB 266 77 Avenue Louis Pasteur

Completed 200057

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

Expression of X-linked ADHD candidate gene STS in brain

Cardiff University, Department of Psychological Medicine

Completed 10152

Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder

Expression of type 1 and 2 Hydroxysteroid dehydrogenase (HSD) isoforms in embryonic life.

University of Birmingham, Division of Reproductive & Child Health, Birmingham Women's Hospital, Edgbaston

Completed 200003

The ontogeny of 25-hydroxyvitamin D(3) 1alpha-hydroxylase expression in human placenta and decidua

Expression of refractive error candidate genes in the developing eye

University College London, 30 Guilford Street

Completed

Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.

 

 

Expression of hTERT

 

The Institute of Toxicology and Genetics (ITG), KarlsruheHermann von Helmholtz-Platz 1

Completed 200015

Expression of genes involved in outflow tract and aortic arch development in the human heart

Newcastle University, International Centre for Life, Newcastle upon Tyne

Completed 200036

Normal and abnormal development of the intrapericardial arterial trunks in humans and mice.

Expression of EPH receptors and ephrin ligands during early human brain development

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200246

Expression analysis of three genes (KIAA0319, TTRAP and THEM) on chromosome 6p22

University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford

Completed

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

Expression analysis of the human orthologue of chick myosin heavy chain 3 - a candidate gene for congenital heart defects?

University of Nottingham, School of Biomedical Sciences, Queens Medical Centre

Completed

Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart

Establishment of a Chronic Lymphocytic Leukemia Model in Humanized Mice

University College London, Cancer Institute

Completed

Epigenetic profiling of embryonic hair folicles

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Ongoing

DNA methylation in human development and congenital heart disease

University of Freidburg, Institute of Experimental and Clinical Pharmacology and Toxicology

Completed

Directed differentiation of human embryonic stem cells to defined neocortical subtypes.

Rockefeller University

Ongoing

Differentiation of otic placodes from human pluripotent stem cells

Newcastle University, Institute of Genetic Medicine, nternational Centre for Life 

On hold

Developmental Expression of the MUL gene

University College London, Department of Paediatrics, London,

Completed

Expression of MUL, a gene encoding a novel RBCC family ring-finger protein. In human and mouse embryogenesis

Development and regulation of the human adrenal cortex during fetal life.

University of Southampton, Human Genetics Division Duthie Building, MP 808 Southampton General Hospital, Tremona Road

Completed

Steroidogenic enzyme expression within the adrenal cortex during early human gestation

Determining a tissue specific expression pattern of the human scEco1/CTF7 gene.

Newcaslte University, Institute of Genetic Medicine, International Centre for Life

Completed

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Derivation and characterization of neuroepithelial stem cells from human developing forebrain

Yale University, Yale School of Medicine, 333 Cedar Street, SHM C323-C

Ongoing

Zika Virus Disrupts Phospho-TBK1 Localization and Mitosis in Human Neuroepithelial Stem Cells and Radial Glia.

 

Culture of human fetal liver cells

Royal Free and University College, Rowland Hill Street, London NW3 2PF

Completed

Growth factors improve gene expression after lentiviral transduction in human adult and fetal hepatocytes

Characterisation of progenitor cells in human foetal lungs 

University of Cambridge, Gurdon Institute

Ongoing 200253

Lung epithelial tip progenitors integrate glucocorticoid- and STAT3-mediated signals to control progeny fate.

Human embryonic lung epithelial tips are multipotent progenitors that can be expanded in vitro as long-term self-renewing organoids.

Complement 5a Receptor Signalling Prevents Folate Deficiency-Induced Neural Tube Defects

University of Queensland, School of Biomedical Sciences, Skerman Building (#65) St Lucia

Completed

C5a receptor signaling prevents folate deficiency-induced neural tube defects in mice

Communication between mother and fetus: imprinting and endocrine adaptations to pregnancy.

Queen Mary University London, Centre for Endocrinology, William Harvey Research Institute

Completed

Breakdown of the endoderm during middle ear cavitation

King's College London, Craniofacial Development & Stem Cell Biology Floor 27 Guy's Hospital London Bridge

Ongoing 200243

Biological function and clinical implications of the novel FRMD7 gene; the first gene to be associated with infantile nystagmus

Leicester University, Hodgkin Building, Lancaster Road

Completed 200081

The nystagmus associated FRMD7 gene regulates neuronal outgrowth and development

Assessment of cis-acting effects on the expression of neuropsychiatric genes

King's College London, Institute of Psychiatry, Centre for the Cellular Basis of Behaviour, James Black Centre, 125 Coldharbour Lane,

Completed 10178

Evidence that schizophrenia risk variation in the ZNF804A gene exerts its effects during fetal brain development

Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia

Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci.

 

Are telomerase splice variant present in human brain and contribute to its protection?

Newcastle University, Institute for Ageing Research/ICaMB, Ageing Research Laboratories, Edwardson Building, Campus for Ageing and Vitality

Completed 200233

Telomerase Activity is Downregulated Early During Human Brain Development

 

Are 'somatic' mitochondrial DNA mutations inherited or acquired? - extension to include pre-extracted DNA for genotyping studies

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200247

An open label study to assess the safety and efficacy of neural allo-transplantation with fetal ventral mesencephalic tissue in patients with parkinson's disease (TRANSEURO)

University of Cambridge, John van Geest Centre for Brain Repair

Completed 200251

An investigation of yolk sac function 

University of Manchester, Maternal & Fetal Health Research Centre,St Mary's Hospital

Ongoing 200263

Analysis of the genome and transcriptome in primary paediatric malignant germ cell tumours

University of Cambridge, Hutchinson/MRC Research Centre, Cambridge

Completed 200068

Malignant germ cell tumors display common microRNA profiles resulting in global changes in expression of messenger RNA targets

 

Analysis of TBX20 gene expression in the developing heart and central nervous system

University College London, Institute of Child Health, Developmental Biology Unit, 30 Guilford Street, London

Completed 10111

Neuronal function of Tbx20 conserved from nematodes to vertebrates

Analysis of microRNAs during cerebral cortex development

Harvard Medical School, Neurology Department, Boston

Completed 200072

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Analysis of expression of genes in Xq12-21

INSERM U491, Medical Genetics and Development Faculty of Medicine La Timone 27, Bd. Jean Moulin

Completed 200023

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

Analysis of Brachyury and SOX2 gene expression patterns during body elongation and arrest

University of Dundee, WTB/MSI Complex College of Life Sciences Dow Street

Completed 200118

Loss of FGF - dependent mesoderm identity and rise of endogenous retinoid signalling determine cessation of body axix elongation

FGF and retinoic acid activity gradients control the timing of neural crest cell emigration in the trunk.

 

 

A study of SHH expression in the developing human limb

University of Sheffield, Firth Court, Western Bank, Sheffield

Completed 200236

A role for SP Cells in cardiac development

Newcastle University, The Medical School, 3rd Floor William Leech Building, Framlington Place, Newcastle Upon Tyne

Completed 200059

The temporal and spatial expression patterns of ABCG2 in the developing human heart

A protein expression profile of the IgLON family members, outside of the brain.

The University of Edinburgh, Cancer Research UK Centre, Crewe Road South, Edinburgh

Completed 200051

OPCML is a broad tumor suppressor for multiple carcinomas and lymphomas with frequently epigenetic inactivation

 

 

Understanding the biology of normal development of the kidneys and urinary tract/Teashirt genes in the renal tract

University College London, Nephro-Urology Unit, 30 Guilford Street, London

Completed 10141

Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations

Thyriod hormone action during early human embyonic development of the central nervous system

University of Birmingham, School of Clinical and Experimental Medicine, Birmingham Women's Hospital, Egbaston

Completed 200094

The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation

Thyroid Receptor isoforms and deiodinase expression in the human embryo

University of Birmingham Division of Reproductive & Child Health Birmingham Women's Hospital Edgbaston Birmingham

Completed 200002

Glucocorticoid-induced apoptosis in human decidua: a novel role for 11 beta-hydroxysteroid dehydrogenase in late gestation

 

Tooth tissue engineering

King's College London, Craniofacial Department Floor 27 Guy's Hospital Guy's Tower London Bridge

Ongoing 200095

In-vitro regulation of odontogenic gene expression in human embryonic tooth cells and SHED cells

Transcriptional atlas of human brain development

Yale University, School of Medicine, Department of Neurobiology, PO Box 208001, New Haven

Completed 200107

Spatio-temporal transcriptome of the human brian

The genetics and developmental biology of vesicoureteric reflux

University College London

Completed 10103

De novo Uropakin IIIa mutations cause renal adysplasia leading to severe kidney failure

Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity

Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.

 

The genetics and biology of oral-facial-digital syndrome type 1 (OFD1): a cause of external malformation and polycystic kidney disease

University College London, Nephro-Urology Unit, 30 Guilford Street, London

Completed 10082

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

The role of Nogo in spinal cord development and regeneration

University College London, Developmental Biology Unit, 30 Guilford Street, London,

Completed 10092

Nogo and Nogo-66 receptors in embryonic human and chick: implications for development and regeneration

 

Side population cells in fetal lungs

University of Leicester. Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester

Completed 200086

Assessment of cis-acting effects on the expression of neuropsychiatric genes

Oxygen dose responsiveness of human fetal airway smooth muscle cells.

Fetal human airway smooth muscle cell production of leukocyte chemoattractants is differentially regulated by fluticasone

Short term primary culture of human neocortex

Newcastle University, Institute of Neuroscience

Completed

In Vitro Modelling of Cortical Neurogenesis by Sequential Induction of Human Umbilical Cord Blood Stem Cells

Distinct cortical and sub-cortical neurogenic domains for GABAergic interneuron precursor transcription factors NKX2.1, OLIG2 and COUP-TFII in early fetal human telencephalon

An enhanced role and expanded developmental origins for gamma-aminobutyric acidergic interneurons in the human cerebral cortex.

 

Sex determination and differentiation during human fetal life.

University of Southampton Human Genetics Division Duthie Building, MP 808 Southampton General Hospital, Tremona Road Southampton

Completed

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination

Screening and charaterisation of DAX1-interacting proteins

University College London, Biochemistry, Endocrinology and Metabolism, 30 Guilford Street, London

Completed

Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal.

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease

 

 

 

Role of miRNAs in human neural retina specification

University College London

Completed

Effective Transplantation of Photoreceptor Precursor Cells Selected Via Cell Surface Antigen Expression

Digenic Inheritance of Mutations in FOXC1 and PITX2 : Correlating Transcription Factor Function and Axenfeld-Rieger Disease Severity

CYP1B1-Related Anterior Segment Developmental Anomalies Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited

Mechanisms underlying loss of regenerative capability in the developing spinal cord

University College London

Completed

FGFR1 down-regulation in differentiating human brain and spinal cord neurospheres

Up-regulation of neural stem cell markers suggests the occurrence of dedifferentiation in regenerating spinal cord

The developing human spinal cord contains distinct populations of neural precursors.

Distinct neural precursors in the developing human spinal cord.

 

 

 

KIF21A and CHN1 expression during brainstem development

Harvard Medical School, Enders Research Building, Boston MA

Completed

Human CHNI mutations hyperactivate alpha2-chimaerin and cuase Duane's retraction syndrome

Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extracular muscles type 1 (CFEOM1)

Investigation of the signalling mechanisms involved in human enteric nervous system development

University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London

Completed 200032

In vivo transplantation of fetal human gut‐derived enteric neural crest cells

Enteric Nervous System Stem Cells Derived from Human Gut Mucosa for the Treatment of Aganglionic Gut Disorders

Development of the neural crest-derived intrinsic innervations of the human lung

Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract.

 

Identifying genes which contribute to Cornelia de Lange syndrome

Newcastle University Department of Biochemistry and Genetics

Completed

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

 

Gene expression in human development studied in amplified cDNA preparations from human embryo, germ and fetal cells

University College London, 30 Guilford Street, London

Completed

Expression of a testis-specific member of the olfactory receptor gene family in human primordial germ cells

The use of aGene expression studies on human primordial germ cells and preimplantation embryos.mplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos

IsExpression of imprinted genes in human preimplantation development.olation of novel developmental genes from human germ cell, oocyte and embryo cDNAs by differential display

Detection of human novel developmental genes in cDNA derived from replicate individual preimplantation embryos

Identification of genes expressed in human primordial germ cells at the time of entry of the female germ line into meiosis

Developmental expression of specific genes detected in high quality cDNA libraries from single human preimplantation embryos

Human embryonic genes re-expressed in cancer cells 

Four zona pellucida glycoproteins are expressed in the human.

Expression of imprinted genes in human preimplantation development.

Gene expression studies on human primordial germ cells and preimplantation embryos.

Gene expression in autosomal recessive primary microcephaly

Cambridge University Hospitals NHS Foundation Trust, Addenbrookes Hospital, Hills Road, Cambridge

Completed

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Human microcephaly.

Gene expression during craniofacial and brain development with particular emphasis on putative genes in the FGF signalling pathway

University College London, Institute of Child Health, Developmental Biology Unit, 30 Guilford Street, London

Completed

Fgf2 is expressed in human and murine embryonic choroid plexus and affects choroid plexus epithelial cell behaviour

Changes in E2F5 intracellular localization in mouse and human choroid plexus epithelium with development

The effect of fibroblast growth factor signalling on choroid plexus epithelium function and development.

Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development.

 

 

Expression of Kallmann's syndrome genes in early development

University College London, Nephro_Urology Unit, Insitute of Child Health, 30 Guilford Street, London

Completed

Molecular pathogenesis of Jallmann's Syndrome

Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome

KAL, a gene mutated in Kallmann's syndrome, is expressed inthe first trimester of human development

Anosmin-1 modulates fibroblast growth factor recptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism

Eurexpress project on human embryonic gene expression analyses (Eurexpress, a European consortium for large scale gene expression analysis by RNA in situ hybridisation)

Newcastle University, Department of Biochemistry and Genetics, Ridley Building Claremont Place Newcastle upon Tyne

Completed

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes

Mutational analysis and embryonic expression of the HLXB9 Currarino syndrome gene

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family

 

Does expression of ephrinB2 and EphB4 distinguish between primordial intrapulmonary arteries and veins?

University College London, Vascular Biology and Pharmacology, Institute of Child Heath, 30 Guilford St. London,

Completed

Origin differentiation and maturation of human pulmonary veins

Prenatal origins of human intrapulmonary arteries: formation and smooth muscle maturation

 

Cortical spinal system development, plasticity and repair: Towards a treatment for cerebral palsy

Sir James Spence Institute for Child Health, Royal Victoria Infirmary, Newcastle upon Tyne

Completed

An immunohistochemical study of the development of sensorimotor components of the early fetal human spinal cord

Changing pattern of expression of parvalbumin immunoreactivity during human fetal spinal cord development

A molecular neuroanatomical study of the developing human neocortex from 8 to 17 postconceptional weeks revealing the early differentiation of the subplate and subventricular zone.

Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development.

 

Arealisation of gene expression in the human neocortex

Royal Victoria Infirmary, Newcastle upon Tyne

Completed 200109

The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit and anterior to posterior gradient of expression in early fetal human neocortex development

Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development

A molecular neuroanatomical study of the developing human neocotex from 8 to 17 postconceptional weeks revealing the early differentiation of the subplate and subventricular zone

Investigating gradients of gene expression involved in early human cortical development

Renewed focus on the developing human neocortex

The Early Fetal Development of Human Neocortical GABAergic Interneurons

Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.

 Subplate in the developing cortex of mouse and human.

 

Analysis of gene variants in growth genes of the normal population

University of Heidelberg Im Neuenheimer Feld 328 69120 Heidelberg, Germany

Completed 200096

Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression

Seeing clearly: the dominant recessive nature of FOXE3 in eye development abnormalities

Heterozygous mutations of OTX2 cause severe ocular malformations

Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study.

Analysis of FOXP2

University College London, Institute of Child Health, Neural Development Unit, 30 Guilford Street, London

Completed 200034

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.

 

Analysis of T-Box gene expression duirng ocular development

University College London, Institute of Child Health, Developmental Biology Unit, 30 Guildford Street, London

Completed 10078

Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina

An investigation of human pancreatic development

University of Southampton, Division of Human Genetics, Duthie Building, Tremona Road, Southampton General Hospital, Southampton

Completed 200004

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

Beta cell differentiation during early human pancreas development

Novel Sox9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia

Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland : potential interactions in gene regulation

 

ALX3/4 expression in the frontonasal process

University of Oxford, Weatherhall Institute of Molecular Medicine, John Radcliff Hospital, Oxford

Completed 10153

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

A combinatorial approach using sterodiogenic factor-1 (SF-1, NR5A1). This project was orignally called The NR5A subfamily of orphan nuclear receptors in human development and disease

University College London, Biochemistry, Endocrinology and Metabolism

Completed 10091

ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.

Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal

Analysis of novel Steroidogenic factor-1 targets in the human adrenal gland

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

A genomic atlas of human adrenal and gonad development.

A clinical and molecular genetic study of congenital microphthalmos-anophthalmos

Oxford Brooks University, Faculty of Health and Life Sciences - 10096/200043

Ongoing 200231/200270

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

Seeing clearly: the dominant recessive nature of FOXE3 in eye development abnormalities

Heterozygous mutations of OTX2 cause severe ocular malformations

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

 

 

X linked imprinting effects on cognition

Cardiff University, Department of Psychological Medicine, Henry Wellcome Building, Heath Site, Cardiff

Completed 10129

Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder

Wilms Tumour: A Model of Disruption in Kidney Development

University College London, Institute of Child Health, 30 Guilford Street, London

Completed 200190

Vitamin A metabolism in early development

Newcastle University, School of Agriculture, Food Rural Development Agriculture Building, Newcastle upon Tyne

Completed 200156

Urothelial differentiation from amniotic fluid derived cells

University College London

Completed 10181

Urinary tract obstruction, PAX2 and TGFb1 in human dysplastic kidneys

University College London, Nephro-Urology Unit, 30 Guilford Street, London

Completed 10074

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract

Inflammatory mediators in human renal dysplasia.

Mutation analyses of Uroplakin II in children with renal tract malformations

 

 

Understanding the role of Nanog during human embryonic development

Newcastle University, Institute of Human Genetic, International Centre for Life, Central Parkway, Newcastle upon Tyne

Completed 200038

Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches.

 

Understanding the function of NECDIN in Prader-Willi syndrome

IBDM Developmental Biology Institute of Marseille, NMDA Campus de Luminy Case 907 13288 Marseille cedex 09

Completed 200027

Understanding endothelial-vascular smooth muscle interactions in normal lung development

The University of Liverpool, Alder Hey Childern's Hospital, Eaton Road, Liverpool,

Completed 10126

Towards an electronic Atlas of the developing brain

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200022

3 dimensional modelling of early human brain development using optical projection tomography

Anatomical and gene expression mapping of the ventral pallium in a three-dimensional model of developing human brain

3D modelling, gene expression mapping and post-mapping image analysis in the developing human brain

JAtlasView: A Java Atlas-Viewer for browsing biomedical 3D images and atlases

 

Transplant of human embryonic stem cell and human induced pluripotent stem cell-derived photoreceptors into Crx, Prph2 and rd1 mice

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200126

Using Zinc Finger Nuclease Technology to Generate CRX-Reporter Human Embryonic Stem Cells as a Tool to Identify and Study the Emergence of Photoreceptors Precursors During Pluripotent Stem Cell Differentiation.

IGF-1 Signaling Plays an Important Role in the Formation of Three-Dimensional Laminated Neural Retina and Other Ocular Structures From Human Embryonic Stem Cells.

 

Transdifferentiation of retinal pigment epithelium

University College Londond, Institute of Opthalmology, 11 -43 Bath Street, london

Ongoing 10188

Transcriptional regulation of neural stem cell self-renewal and differentiation

University College London

Completed 200153

Transcriptional profiling of human cardiac and neural development in embryonic and fetal stages

Wellcome Trust Sanger institute, Hinxton, Cambridge

Completed 200189

TOP2B in neural development

Newcastle University, ICaMB, The Faculty of Medical Sciences

Completed 200191

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

 

To understand human Mendelian neurodevelopmental disorders (continuance)

University of Cambridge, Cambridge Institute of Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Long Road Cambridge

Completed 200181

Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication

To investigate whether biliary atresia has an infectiouscause in paediatric cohort using molecular techniques

King's College Hospital NHS Trust, Bessemer Wing, Dnemark Hill, London

Completed 200176

To Investigate functions of candidate genes in mitrochondrial disease with combined respiratory complex deficiency

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200133

The structure and function of novel divergent PRD class homeobox genes

University of Oxford Department of Zoology  South Parks Road Oxford

Completed 10158

The role of TWIST in cranial development and suture fusion

University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London

Completed 10067

The role of transcription factors and other genes in the aetiology of hypopituitarism with or without forebrain defects

University College London, 30 Guilford Street, London

Completed 10131

Genetic regulation of pituitary gland development in human and mouse

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

 

The role of the KRAB-Zn finger proteins ZNF224/225 and WT1 in development and disease

Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway Newcastle Upon Tyne

Completed 200093

The role of Nogo in spinal cord development and regeneration

University College London, Developmental Biology Unit, London,

DUPLICATE

Nogo and Nogo-66 receptor in human and chick: implications for development and regeneration.

 

 

The role of MID1 during development

King's College London, Department of Craniofacial Development, London

Completed 10066

The Role of Grem1 and its interacting genes in human palate and lip development

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200148

The role of claudins in the human urinary tract in health and disease

University of York, Jack Birch Unit of Molecular Carcinogenesis, Department of Biology

Completed 10132

The role of cilla related genes in human embryonic lungs and kidney

Kingston University, Penrhyn Road Kingston-Upon-Thames

Completed 200127

The role of CEACAM1 and CEACAM20 in the development of prostate and prostate cancer.

City of Hope Institute California, 1500 E. Duarte Road, Duarte, CA 91010, USA

Completed 200141

The pathlogenesis of chordoma - a rare notochordal tumour

The Royal National Orthopaedic Hospital, Institue of Orthopaedics, Histopathologh , Brockley Hill, Stanmore, Middlesex.

Completed 10197

The overexpression of LARGE as a therapeutic approach in the Dystroglycanopathies

University College London, The Dubowitz Neuromuscular Centre

Completed 10187

The influence of bacteria and food antigens on T-cell retention and clonal expansions in the gut mucosa

The University of Bristol, Univeristy Dept of Medicine, Bristol Royal Infirmary, Bristol

Completed 10072

The fetal pathogenesis of Down syndrome leukaemias (continuation)

University of Oxford, Department of Paediatrics and Molecular Haematology Unit, Weatherall Institute of Molecular Medicine

Completed 200279

The fate and function of extracardiac cell populations in heart development and malformations

St. Georges Hospital Medical School,  Dept of Anatomy and Developmental Biology, Cranmer Terrace, London

Completed 10080

The expression of the homeobox gene HSEX1 in the human embryo

University College London, 30 Guilford Street, London

Completed 10077

The expression of microcephalin in the fetal human brain

University of Leeds, St James University Hospital,  Molecular Medicine Unit, CSB, Leeds

Completed 200025

The evolution of mammalian developmental transcriptomes

Heidelberg University, Center for Molecular Biology, Im Neuenheimer Feld 282

On Hold 200174

The evolution of lncRNA repertoires and expression patterns in tetrapods

 

The control of the Feto-Placental Unit by Kisspeptin and Corticotropin Releasing Hormone (CRH): Potential novel insights into the pathogenesis of premature birth

Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute, Charterhouse Square, London EC1M6BQ

Completed 200160

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

 Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit

The clinical diagnosis of viral disease in humans

Epsom and St Helier University Hospitals NHS Trust,  Department of Medical Microbiology, West Park Hospital, Horton Lane, Epsom, Surrey,

Completed 10122

Study of gene expression that may regulate left-right brain asymetry

Harvard Medical School, Neurology Department NRB 266 77 Avenue Louis Pasteur Boston

Completed

Study of gene expression that may direct the vascularization of the developing cerebal hemispheres

Harvard Medical School Neurology Department NRB 266 77 Avenue Louis Pasteur Boston

Completed

Studies on Fetal Stem Cells

Nottingham University Hospitals NHS Trust, Department of Immunology,  Queen's Medical Centre Campus Nottingham

Completed

Sodiuim channel splicing

University College London, Department of Clinical and Experimental Epilepsy Room 826 Queen Square House Institute of Neurology London

Completed

Second heart field derivatives in human congenital heart disease

Children's Hopital of Philadelphia, Rm 1108, BRBII/III 421 Curie Blvd Philadelphia

Completed

Routine clinical diagnosis

St. Mary's NHS Trust, Department of Virology, Jefferiss Wing - 2nd Floor Winsland Street, London

Completed

Roles of miRNAs in regulation of FOXP2 I early brain development

Louisiana State University, Neuroscience Centre of Excellence,  Health Science Centre, 2020 Gravier Street, Lions Building Suit D, New Orleans LA 70112

Completed

Role of TSPO in activation of microglia

Imperial College London, 5th Floor Burlington Danes Hammersmith Hospital, Imperial College London, Du Cane Road, London

Completed

Role of the SCL gene in osteogenesis

Cambridge Institute of Medical Research Cambridge

Completed

Role of MCPH1 during cortical neurogenesis

INSERM U676, Hopital Robert Debre, 48 Boulevard Serurier, Paris

Completed

Retinal pigment epithelia microarray study

Pfizer Regenerative Medicine 

Completed

Regulator of retinal development

University College London, Institute of Opthalmology, Bath Street, London

Completed

Regulation of gene expression in cranial sutures of human fetuses

University of Oxford Weatherall Institute of Molecular Medicine John Radcliffe Hospital Headington Oxford

Ongoing

PLUNC's in oral health and disease

The University of Sheffield, Department of Oral Pathology School of Clinical Dentistry Claremont Cresent Sheffield

Completed 200069

BPI-fold (BPIF) containing/plunc protein expression in human fetal major and minor salivary glands.

PAX9 and PAX1 in craniofacial development

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

Generation of Pax1/PAX1-Specific Monoclonal Antibodies.

 

Pax6 expression in early hindbrain development

University College London, Dept of Biology, Wolfson House, London

Completed

Organogenesis of the venous system of the lower limbs 3D reconstruction from slices using immuno markers

University of Paris, Descartes, Laboratory of Anatomy (PR Delmas), 45 rue des Saints Peres - 75006 - Paris

Completed

Ontogenesis of pelvic outlet musculature in man

University of Reading, Petr Valasek, M.D., PhD. Lab of Prof. Ketan Pate,l School of Animal and Microbial Sciences

Completed

On the origin of Alzheimer's Desease

Warwick University, Department of Biological Sciences

Completed

On the Epigenic Regulation of EAAT-2

Max Planck Institute of Psychiatry Kraepelinst Munich

Completed

Newcastle slides sent to London

University College London, Dr Dianne Gerrelli Manager of the London HDBR Neural Development Unit, Institute of Child Health

Ongoing

Neuronal cell fate determination in human cerebral cortex

University of Cambridge, Gurdon Insititute, Tennis Court Road, Cambridge

Completed

Neuroepithelial stem cells from the human embryo

Wellcome Trust Centre for Stem Cell Research, Tennis Court Road, Cambridge, CB21QR

Completed

Neurodevelopmental trajectories of DNA methylation

King's College London, Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry

Completed 10196

Methylomic trajectories across human fetal brain development

5-hydroxymethylcytosine is highly dynamic across human fetal brain development

 

Molecular Pathology of Primary Pulmonary Hypertension

University of Leicester, Division of Medical Genetics, Departments of Medicine and Genetics

Completed

Regulation of bone morphogenetic protein signalling in human pulmonary vascular development.

 

Molecular pathology of epilesy

University College London, 30 Guilford street London

Completed

Molecular Mechanisms various genes involved in brain and visula systems development

King Saud University, College of Medicine, Riyadh

Completed

Molecular Genetics of Autosomal Recessive Eye Disease

University of Birmingham Medical and Molecular Genetics Egbaston

Completed

Modelling human neural development and response to insults in vitro

University College London, Institute of Child Health, 30 Guilford Street London

Completed

Modulation of calcium-induced cell death in human neural stem cells by the novel peptidylarginine deiminase-AIF pathway.

Mitochondria and neural Stem Cells

Newcastle University Dept of Neurology 4th Floor The Medical School

Completed

MicroRNAs and human thyroid dysgenesis

INGEMM Institute for Medical and Molecular Genetics 

Completed

Mechanisms of Development Biology in Skin

King's College London, Centre for Stem Cells and Regenerative Medicine

On hold

Mimicking the topography of the epidermal–dermal interface with elastomer substrates

 

Lower limbs lymphatics development

The Hospital Necker - Enfants Malades, 149 rue de Sevres 75743 Paris France

Completed

Localisation of a novel transcript mutated in hypogonadotropic hypogonadism

Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway Newcastle upon Tyne

Completed

Localisation and isolation of the genes for primary lymphoedema

St. George's University, Medical Genetics Unit, London

Completed

KCNV2 expressio in human brain

University College London, Department of experimental epilepsy, Institute of Neurology, National Hospital for Neurology and Neuroscience, Queens Square, London

Completed

Isolation and characterization of embryonic muscle stem cells

University College London, Institute of Child Health, Department of Paediatric Surgery, 30 Guildford Street

Ongoing

Isolation and characterisation of stem cells during development of the human heart

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

Isolating foetal hepatocytes for Hepatitis C research

University of Oxford, Department of Biochemistry, South Parks Road, Oxford, Oxfordshire OX1 3QU

Completed

Investigation of the expression profile of PTPN11

St. George's Hospital Medical School, Dept of Anat and Dev Biol, Cranmer Terrace, London

Completed

Investigation of the endogenous channel modifier LYPD1 in the developing foetus

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

Investigation of the effect of bile acids on the function of human cardiomyocytes

Imperial College London, Du Cane Road London

Completed

Investgation of RHOGAP3 expression in the early human embryo.

University of Heidelberg Im Neuenheimer Feld 328 69120 Heidelberg, Germany

Completed

Investigation of glial and neuronal regenerative mechanisms in epilepsy

University College London, Institute of Neurology, Queen Square, London

Completed

Investigation of genetic etiology of developmental disorders

St. James University Hospital Wellcome Trust Brenner Building Leeds

Completed

Investigation of Bmp4 expression in human development

University of Oxford, Department of Human Anatomy and Genetics

Completed

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Investigating the role of CENPF during human fetal development

University College London, Institute of Child Health, London

Completed

Investigating the relationship between corneal structure and function

Cardiff University, School of Optometry and Vision Sciences

Ongoing

Three-dimensional arrangement of elastic fibers in the human corneal stroma.

 

Investigating potentially conserved Blimp1/Prdm1 function in the embryonic gut

University of Oxford, Dunn School of Pathology, Oxford

On Hold

Blimp1/Prdm1 Functions in Opposition to Irf1 to Maintain Neonatal Tolerance during Postnatal Intestinal Maturation

 

Investigating mechanisms of sarcopenia

Newcastle University, Mitochondrial Research Group

Completed

Respiratory chain deficiency in aged spinal motor neurons

Increased viability and differentiation potential of transplanted neural stem cells by genetic manipulation

University of Nottingham, School of Biomedical Sciences, Medical School, Nottingham

Completed

In vitro effect of anti hypertensives on placental proteins

Univeristy College Hostpital 86-96 Chenies Mews London

Completed

Imprinted Genes in embryonic development

Guy's and St Thomas' Hospital NHS Trust, 8th Floor Guy's Tower London

Completed

Identification of biomarkers for selection of transplantation-competent human photoreceptor precursors for retinal cell therapy

University College London, Institute of Child Health, 30 Guilford Street, London

Ongoing

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel From Embryonic Stem Cell-Derived Self-Forming Retina.

 

Identification of a novel gene for primary microcephaly in humans

University College London, Institute of Child Health, The Dubowitz Neuromuscular Centre

Completed

Human-specific gene regulation in the developing embryo

Yale University, 333 Cedar Street New Haven CT

On hold 200115

The evolution of lineage-specific regulatory activities in the human embryonic limb.

Origin and evolution of developmental enhancers in the mammalian neocortex.

Evolutionary genomics. Evolutionary changes in promoter and enhancer activity during human corticogenesis.

High Resolution Epigenomic Atlas of Early Human Craniofacial Development

Human Sensory Neuron Differentiation

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

Human foetal dorsal root ganglion-derived cell line

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed

Human cortical development and evolution

University of Brussels, Institute of Interdisciplinary Research (IRIBHM) ULB, Campus Erasme, Bldg. C Room 6.113/6.111 808, Route de Lennik Brussels

Completed

HIV affects neural stem cells and adult brain cellse through the Kynurenine Pathway

King's College London James Black Centre 125 Coldhabor Lanes London

Completed

High Resolution 3D modelling of heart morphogenesis

National Institute for Medical Research (NIMR), The Ridgeway, Mill Hill, London

Completed

The embryological basis of subclinical hypertrophic cardiomyopathy.

 

HDBR embryo cDNA libraries (with HGMP)

King's College London, GKT School of Medicine, Guys Campus,

Completed

Detection of human novel developmental genes in cDNA derived from replicate individual preimplantation embryos

 

Gross morphology and histological study of abnormal embryos in HDBR (Newcastle)

Newcastle University, Institute of Human Genetics

Completed

Genetics and immunology of type 1 diabetes

Cambridge Institue for Medical Research, UDRF/WT Diabetes and inflammation laboratory, Wellcome Trust/MRC Buidling , Cambridge, CB2 OXY

Completed

Genetic regulation of human endoderm and pancreas development

Stanford University, Beckman Centre, Stanford CA

Completed

Genetic determinants of neuronal migration in the brain

University of Otago, Dunedin School of Medicine

Completed

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

 

Genetic and developmental analysis of Fraser Syndrome

University College London, Molecular Medicine, 30 Guilford Street, London,

Completed

Generation of human liver progenitors from naive induced pluirpotent stem cells

King's College London, Centre for Stem Cells and Regenerative Medicine & Institute of Liver Studies, Guy's Hospital

Ongoing

Generation of feeder cell lines to support the growth of undifferentiated human embryonic stem cell lines

UK Stem Cell Bank, National Institute for Biological Standards and Control,

Completed

Generation and characterisation of human fetal kidney stem/progenitor cells

University College London, Nephro-Urology Unit, 30 Guilford Street, London

Ongoing

Gene expression studies of the HDAC9 gene

Karolinska University Hospital, Unit of Clinical Genetics, Department of Molecular Medicine and Surgery CMM, L8:02 Stockholm

Completed

Gene expression of cell adhesion molecule L1 in developing human embryo

Newcastle University, Department of Biochemistry and Genetics, Ridley Building, Claremont Place, Newcastle upon Tyne

Completed

Gene Expression in the embryonic and fetal human brain

Boston Children's Hospital, 3 Blackfan St, CLS15049, Boston

Completed 200196

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

 

Gene Expression in Human Macula

University College London, Institute of Opthalmology, London

Ongoing

Geminin expression in human placenta

Imperial College London Division of Surgery, Oncology, Reproductive Biology and Anaesthetics Charing Cross Campus Fulham Palace Road London

Completed

GDI1 and RAB3A expression during human embryonic brain development

IGBE-CNR, Via Abbiategrasso 207, 27100, Pavia, Italy

Completed

Functional impact of a ZNF804A risk-SNP for schizophrenia and bipolar disorder

State University of New York Upstate Medical University, Weiskotten Hall, Room 3271 766 Irving Avenue, Syracuse, NY

Completed

Functional genetics of genes identified as determinants of lung function

University of Nottingham, Therapeutics & Molecular Medicine, Queen's Medical Centre Nottingham

Completed

HTR4 gene structure and altered expression in the developing lung.

GSTCD and INTS12 Regulation and Expression in the Human Lung

Translating Lung Function Genome-Wide Association Study (GWAS) Findings: New Insights for Lung Biology.

The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In Vitro

Developmental genetics of the COPD lung

Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development.

 

 

Functional analysis of the MKKS gene mutated in BBS6 (Bardet-Biedl Syndrome 6)

University College London, Molecular Medicine Unit, Insitute of Child Health, 30 Guilford Street, London

Completed

Formation of the Pulmonary Vein in the Human Embryo

University College London, 30 Guilford Street, London

Completed

Formation of the earliest cortical circuits in the cerebral cortex

University of Oxford, Department of Physiology, Anatomy and Genetics.

Completed

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.

Foetal hepatocyte therapy for acute liver failure and liver-based metabolic disease

King's College London, Hepatocyte Biology anf Transplantation Group, Institute of Liver Studies, Bessemer Road, London SE5 9PJ

Completed

Fluorescence lifetime imaging (FLIM) of human tissue

Imperial College London, Department of Histopathology 1st Floor L Block Hammersmith Hospital Du Cane Road, London

Completed

FGF receptor signalling during osteogenesis in human craniofacial development

University College London, 30 Guilford Street

Completed

Expression study of the gene encoding the catalytic subunit of telomerase, hTERT, during human development.

The Institute of Toxicology Hermann von Helmholtz-Platz 1 76344 Eggenstein-Leopoldshafen

Completed

Expression study of new gene involved in Joubert syndrome

University of California, Leitchtag Biomedical Research Building 3rd Floor Department of Neuroscience Medical School Campus, San Diego 9500 Gilman Drive M/C 0691 La Jolla,

Completed

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

 

Expression studies of a novel developmental gene in human fetal heart

St. George's Medical School, Department of Clincal Developmental Sciences, Cranmer Terrace, Tooting, London

Completed 10097

Expression profile of the novel gene hmm262244 in the human fetal heart

University of Nottingham, School of Biomedical SciencesQueens Medical Centre

Completed 10194

Expression patterns of ZNF genes that are involved in mental retardation in human development

University of Nijmegen PO Box 9101 6500 HB Nijmegen

Completed 200066

Expression patterns of opticin in the central nervous system

University of Manchester, Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, Micheal Smith Building, Oxford Road, Manchester

Completed 200058

Expression of WHSC3 and WHSC5

University of Erlangen-Nuremberg Schwabachanlage 10 D91054 Erlangen Germany

Completed 200064

Expression of VANGL2 in the developing human heart

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200030

Expression of the STRO-1 antigen in human embryonic tissue

University of Bath, Claverton Down, Bath

Completed 10070

Expression of the schizophrenia candidate gene ZNF804A in brain

Cardiff University Department of Psychological Medicine Henry Wellcome Building Heath Site Cardiff

Completed 10162

Expression of Tbx-3 in renal scarring

Royal Free and University College Medical School, 7th Floor, Jules Thorn Building, Middlesex Hospital, Mortimer Street, London

Completed 10084

Expression of S100P calcium binding protein during human development

Queen Mary University of London, Molecular Oncology Centre, Barts Cancer Institute, John Vane Science Centre, Charterhouse Square, London

Completed 200161

Expression of RFX Transcription Factors During Mammalian Development

University College London

Completed 200184

Expression of Protocadherin X/Y in the developing human nervous system

University of Oxford, Warneford Hospital Oxford

Completed 200041

Expression of MMP11 during angiogenesis

Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway Newcastle upon Tyne

Completed 200031

Expression of LHX3, LHX4 and ISL1 in inner ear

INSERM U781, 149 rue de Severs 75743 Paris Cedex 15 France

Completed 200092

Expression of key regulators of mammary development

Institute of Cancer Research, 237 Fulham Road, London

Completed 10142

Expression of Kallmann's syndrome genes in early development

University College London, Nephro-Urology Unit, 30 Guilford Street, London

Completed 200139

Molecular Pathogenesis of Kallmann’s Syndrome

Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.

Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.

KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development.

Expression of innate immune molecules in human CNS

Cardiff University, Brain inflammation and immunity group, Medical biochemistry and immunology

Completed 10127

Expression of Gremlin and Induced in High Glucose 1 in early development

University College London, Nephro-Urology Unit, 30 Guilford Street, London

Completed 10106

Expression of Grainyhead-like genes

University College London, Institute of Child Health, Molecular Genetics

Completed 200167

Expression of four genes mutated in neurological diseases

St. George's Hospital Medical School, Dept of Anat & Dev Biol, Cranmer Terrace, London

Completed 10118

Expression of FGF mediators in embryonic tissue

University of Bath, Claverton Down, Bath

Completed 10071

Expression of EML1 in the developing cerebral cortex

University of Paris, Institut du Fer a Moulin Inserm UMRS 839/UPMC 17 Rue de Fer a Moulin 75005 Paris

Completed 200136

Expression of EFR3A

 

University College London

Completed 10182

Expression of craniorachischisis associated genes in the human embryo

University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London

Completed 10105

Expression of C1qRp during the emergence of intra-embryonic human haematopoiesis

London Research Institute, 44 Lincoln's Inn Fields, London

Completed 10094

Expression characterisatiuon of VP13 gene family members in the human embryo

University of Manchester, Centre for Molecular Medicine, Oxford Road, Manchester

Completed 200078

Expression analysis of genes important in hypothalamic-pituitary development

University College London, Institute of Child Health, Molecular Genetics, 30 Guilford Street, London

Ongoing 200178

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

 

Establishment of induced pluripotent stem cell derived cardiomyocyte lines for the investigation of Hypoplastic Left Heart Syndrome

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200137

Epigenetic signatures of human embryonic development in health and disease

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200082

Epigenetic reprogramming of human primordial germ cells

University of Cambridge, Tennis Court Road, Cambridge

Completed 200162

Environmental Exposures and Neurodevelopmental Disorders

Newcastle University, Wolfson Building, Claremont Place, Newcastle

Completed 200159

Effect of splicing factor concentration on key splices required for muscle development

Newcastle University, Institute of Genetic Medicine, International Centre for Life 

Completed 200033

The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brain.

 

Early development of the human forebrain

University of Oxford, University Laboratory of Physiology, Parks Road, Oxford

Ongoing 200106

Diversity of Cortical Interneurons in Primates: The Role of the Dorsal Proliferative Niche

Downstream targets of SHOX in the developing human embryo

University of Heidelberg, Im Neuenheimer Feld 328 69120 Heidelberg, Germany

Completed 200021

Dissecting the expression patterns of two isoforms of the gene PCSK6, a gene assiciated with handedness

University of Oxford, Roosevelt Drive, Oxford

Completed 200128

DISC1 pathway in early brain development

Western General Hospital, Crewe Road, Edinburgh

Completed 200076

Differentiation of human embryonic stem cells to sympathetic neurons as a model for understanding neuroblastoma pathogenesis

Newcastle University, Newcastle Cancer Centre at The Northern Institute for Cancer Research, The Medical School, Framlington Place

Completed 200183

Diagnostic clinical virology

University College London, Department of Virology, London

Completed 10123

Development of the forebrain medial wall and neocortex

Newcastle University, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne

 

Completed 200049

Development of the cardiac conduction system in human embryos

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200079

Development of Human Brain Asymmetry

University of California, 11000 Kinross Avenue Suite 200, Los Angeles CA

Completed 200119

Development of Haematopoietic Stem Cells in the Human Embryo

University of Edinburgh, MRC Centre for Regenerative Medicine

Completed 200192

Development of Embryonic Cell Cultures and Studies of Gene Expression

Newcastle University, Wolfson Building, Claremont Place, Newcastle

Completed 200061

Development and differentiation of the human foregut during fetal life.

University of Southampton, Human Genetics Division, Southampton General Hospital

Completed 200018

Determing the expression of AP2-alpha in the human embryo

King's College London, Division of Medical and Molecular Genetics, 8th floor Guy's Hospital Tower, Guy's Campus, London.

Completed 200012

Detailed PAX6 Expression in Brain and Heart

Western General Hospital, MRC Human Genetics Unit, Edinburgh

Completed 200074

Derivation and characterisation of neural progenital cell lines

University of Durham, School of Biological and Biomedical Science, South Road, Durham

Completed 200047

Defining the mithochondrial genetic bottleneck in humans

University of Cambridge, Department of Clinical Neurosciences, Cambridge

Ongoing 200282

CYP21 gene and pseudogene expression in human embryo

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200125

Culturing human dorsal root ganglion cells for testing of pain modifying pharmacological agent

Newcastle University, Institute of Neuroscience Framlington Place Newcastle upon Tyne

Completed 200169

Culture of Human olfactory ensheathing cells and stem cell

University of Glasgow, College of Medical Veterinary and Life Sciences

Completed 200122

Continuing the analysis of region-specific gene expression in human neural development: Comparison of in vivo and in vitro neurogenesi

University of Bonn, Sigmund-Freud Strasse 25 53127 Bonn

Completed 200164

Comparison of the expression of a novel cadherin in the mouse and human embryo

UK HGMP (Human Genome Mapping Project Resource Centre), Hinxton Hall, Hinxton Cambridgeshire

Completed 200014

Comparison of caudal neurulation modes between human and mouse embryos

University College London, Institute of Child Health, 30 Guilford Street, London

Ongoing 200173

Spina difida

COL6A6 expression in human development

Oregon Health and Sciences University, Dept of Orthopaedics, mailcode OP31, 3181 SW Sam Jackson Park Road Portland, Oregon

Completed 200112

Characterising the human embryonic epicardium in heart development

University of Oxford, Department of Physiology, Anatomy and Genetics

Completed 10176

Characterisation of the human embryonic and foetal epicardium during heart development.

Characterisation of VMD2 expression in the human embryo

University of Manchester, 3.722 Stopford Building,  Oxford Road

Completed 200077

Characterisation of the development and differentiation of the human limbal stem cell

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200147

Characterisation of proliferating cells in the developing cerebral cortex

University of Oxford, University Laboratory of Physiology Parks Road Oxford

Completed 200046

Characterisation of cortically-derived human neural stem cells as a tool for neuropsychiatric drug discovery

King's College London, Institute of Psychiatry, Centre for the Cellular Basis of Behaviour

Completed 10177

Characterisation of CD4+T cell expansion after cord blood transplantation and its role in anitviral, regulatory and anti-leukaemic effects.

University College London, Institute of Child Health, 30 Guilford Street 

Completed 10193

Cellular and molecular analysis of GNRH-1 neuronal development

University of Lille 2, Lille, Cedex, France

Completed 200145

Cell cycle markers in cortical dysplasia

University College London, Institute of Neurology, Division of Neuropathology, Queens Square London

Completed 10139

Cardiac inflow in human embryo

Newcastle University, International Centre for Life, Newcastle upon Tyne

Completed 200101

Clarification of the identity of the mammalian fifth pharyngeal arch artery

Ascertainment of ROR2 mutations in recessive Robinow syndrome and elucidation of the development profile of ROR1 and ROR2 in humans, from early embryo to adult

St. Georges Hospital Medical School, Dept of Anatomy and Development Biology, London

Completed 10063

Are 'somatic' mitochondrial DNA mutations inherited or acquired

Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne

Completed 200146

Apoptosis and gene expression in the human embryonic tail

University College London, Institute of Child Health, Neural Development Unit, 30 Guilford Street, London

Completed 10076

Analysis of XOS9 gene expression

Newcastle University, Institute of Human Genetic, International Centre for Life

Completed 200020

Analysis of the developmental expression of NBR1

Guy's Hospital, Cancer Genetics Laboratory, Dept of Medical and Molecular Genetics, 8th Floor, Guy's Tower, London

Completed 10087

Analysis of somatic human stem cells in vivo and in vitro

University College London, Institute of Child Health, 30 Guilford Street, London

Completed 10167

Analysis of region-specific gene expression in human neural development: Comparison of in vivo and in vitro neurogenesis

University of Bonn, Sigmund-Freud Strasse 25 53127 Bonn

Completed 200073

MicroRNA-Based Promotion of Human Neuronal Differentiation and Subtype Specification

 

Analysis of microRNA-related gene expression regulation

University of Heidelberg, Department of Human Molecular Genetics, Im Neuenheimer Feld 366, 69221 Heidelberg

Completed 200143

Analysis of GATA4 expression in the human embryonic liver

The University of Edinburgh, John Hughes Bennett Laboratory, Western General Hospital, Crewe Road, South Edinburgh

Completed 200055

Analysis of Fetal Cerebrospinal Fluid Exosome Content

Yale University, School of Medicine 429 FMB New Haven CT, 06520

Completed 200157

Embryonic cerebrospinal fluid nanovesicles carry evolutionarily conserved molecules and promote neural stem cell amplification.

Analysis of expression patterns of neurogenesis genes in the developing spinal cord

University of Dundee, College of Life Sciences, MSI/WTB complex Dow Street Dundee

Ongoing 200193

An investigation of human cardiac development

University of Southampton, Division of Human Genetics, Duthie Building, Tremona Road, Southampton General Hospital, Southampton

Completed 200005

Differences between human and mouse alpha-fetoprotein expression during early development

JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype.

 

An eQTL study of the developing brain

Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford

Completed 10164

Adult stem cell tissue engineering to develop human liver for therapeutic intervention

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200104

Accessible Resource for Integrated Epigenomic Studies (ARIES)

Newcastle University, Institute of Genetic Medicine, International Centre for Life

Completed 200155

Data Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES).

 

A Study of the Muscles of the Soft Palate

University College London, Institute of Child Health, 30 Guilford Street, London

Completed 200187

A study of expression of the Dyggve Malchior Clausen syndrome gene during early human development

University of Leicester, Department of Genetics, University Road, Leicester

Completed 10115

A humanised mouse model

King's College London, Guy's Hospital, Great Maze Pond 

Completed 10172

3D atlas of the developing human

Univeristy of Amsterdam

Completed 200140

1. Development of the Cerebral Cortex in mammals 2. SHH signalling and Interneuron progenitors in human SVZ 3. Development of |Oligodendrocyte in the Human Fetal Brain relevance for MS

University of Connecticut, Department of Neuroscience, Farmington

Completed 200117

Diversity of cortical interneurons in primates: the role of the dorsal proliferative niche.