Peter J. Scambler Developmental Biology of Birth Defects UCL Institute of Child Health Biography Publications Institution JoVE Articles Peter J. Scambler has not added a biography. If you are Peter J. Scambler and would like to personalize this page please email our Author Liaison for assistance. Publications HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3 PloS One. 2016 | Pubmed ID: 27518902 Cardiac Defects, Nuchal Edema and Abnormal Lymphatic Development Are Not Associated with Morphological Changes in the Ductus Venosus Early Human Development. Oct, 2016 | Pubmed ID: 27405055 Corrigendum: TCTEX1D2 Mutations Underlie Jeune Asphyxiating Thoracic Dystrophy with Impaired Retrograde Intraflagellar Transport Nature Communications. Mar, 2016 | Pubmed ID: 27021811 22q11.2 Deletion Syndrome Nature Reviews. Disease Primers. Nov, 2015 | Pubmed ID: 27189754 Increased Nuchal Translucency Origins from Abnormal Lymphatic Development and is Independent of the Presence of a Cardiac Defect Prenatal Diagnosis. Dec, 2015 | Pubmed ID: 26338284 A Critical Role for the Chromatin Remodeller CHD7 in Anterior Mesoderm During Cardiovascular Development Developmental Biology. Sep, 2015 | Pubmed ID: 26102480 Neural Crest-derived SEMA3C Activates Endothelial NRP1 for Cardiac Outflow Tract Septation The Journal of Clinical Investigation. Jul, 2015 | Pubmed ID: 26053665 TCTEX1D2 Mutations Underlie Jeune Asphyxiating Thoracic Dystrophy with Impaired Retrograde Intraflagellar Transport Nature Communications. Jun, 2015 | Pubmed ID: 26044572 The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development Developmental Cell. May, 2015 | Pubmed ID: 26017770 Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1 The Journal of Biological Chemistry. May, 2015 | Pubmed ID: 25847244 CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus Stem Cells (Dayton, Ohio). Jan, 2015 | Pubmed ID: 25183173 Diffusion Microscopic MRI of the Mouse Embryo: Protocol and Practical Implementation in the Splotch Mouse Model Magnetic Resonance in Medicine. Feb, 2015 | Pubmed ID: 24634098 In Amnio MRI of Mouse Embryos PloS One. 2014 | Pubmed ID: 25330230 HIC2 is a Novel Dosage-dependent Regulator of Cardiac Development Located Within the Distal 22q11 Deletion Syndrome Region Circulation Research. Jun, 2014 | Pubmed ID: 24748541 Combined Exome and Whole-genome Sequencing Identifies Mutations in ARMC4 As a Cause of Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm Journal of Medical Genetics. Jan, 2014 | Pubmed ID: 24203976 Deregulated FGF and Homeotic Gene Expression Underlies Cerebellar Vermis Hypoplasia in CHARGE Syndrome ELife. Dec, 2013 | Pubmed ID: 24368733 Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome PloS One. 2013 | Pubmed ID: 24244619 Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy American Journal of Human Genetics. Oct, 2013 | Pubmed ID: 24183451 Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans American Journal of Human Genetics. Oct, 2013 | Pubmed ID: 24140113 Novel Exomphalos Genetic Mouse Model: the Importance of Accurate Phenotypic Classification Journal of Pediatric Surgery. Oct, 2013 | Pubmed ID: 24094954 A Coming of Age: Advanced Imaging Technologies for Characterising the Developing Mouse Trends in Genetics : TIG. Dec, 2013 | Pubmed ID: 24035368 Short-rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 American Journal of Human Genetics. Sep, 2013 | Pubmed ID: 23910462 Exome Sequencing Identifies DYNC2H1 Mutations As a Common Cause of Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Without Major Polydactyly, Renal or Retinal Involvement Journal of Medical Genetics. May, 2013 | Pubmed ID: 23456818 Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease Human Mutation. May, 2013 | Pubmed ID: 23418020 Splice-site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia American Journal of Human Genetics. Jan, 2013 | Pubmed ID: 23261303 Mutations in CCDC39 and CCDC40 Are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms Human Mutation. Mar, 2013 | Pubmed ID: 23255504 Enhanced Tissue Differentiation in the Developing Mouse Brain Using Magnetic Resonance Micro-histology Magnetic Resonance in Medicine. Nov, 2013 | Pubmed ID: 23213043 Tbx1 Genetically Interacts with the Transforming Growth Factor-β/bone Morphogenetic Protein Inhibitor Smad7 During Great Vessel Remodeling Circulation Research. Jan, 2013 | Pubmed ID: 23011393 Segmentation Propagation Using a 3D Embryo Atlas for High-throughput MRI Phenotyping: Comparison and Validation with Manual Segmentation Magnetic Resonance in Medicine. Mar, 2013 | Pubmed ID: 22556102 Sprouty1 Haploinsufficiency Prevents Renal Agenesis in a Model of Fraser Syndrome Journal of the American Society of Nephrology : JASN. Nov, 2012 | Pubmed ID: 23064016 Generation of Mice with a Conditional Null Fraser Syndrome 1 (Fras1) Allele Genesis (New York, N.Y. : 2000). Dec, 2012 | Pubmed ID: 22730198 Mutations in GRIP1 Cause Fraser Syndrome Journal of Medical Genetics. May, 2012 | Pubmed ID: 22510445 Expression of Fraser Syndrome Genes in Normal and Polycystic Murine Kidneys Pediatric Nephrology (Berlin, Germany). Jun, 2012 | Pubmed ID: 21993971 Endogenous Retinoic Acid Activity in Principal Cells and Intercalated Cells of Mouse Collecting Duct System PloS One. Feb, 2011 | Pubmed ID: 21326615 SHOX Interacts with the Chondrogenic Transcription Factors SOX5 and SOX6 to Activate the Aggrecan Enhancer Human Molecular Genetics. Apr, 2011 | Pubmed ID: 21262861 TTC21B Contributes Both Causal and Modifying Alleles Across the Ciliopathy Spectrum Nature Genetics. Mar, 2011 | Pubmed ID: 21258341 An Ift80 Mouse Model of Short Rib Polydactyly Syndromes Shows Defects in Hedgehog Signalling Without Loss or Malformation of Cilia Human Molecular Genetics. Apr, 2011 | Pubmed ID: 21227999 Magnetic Resonance Virtual Histology for Embryos: 3D Atlases for Automated High-throughput Phenotyping NeuroImage. Jan, 2011 | Pubmed ID: 20656039 Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions Cell. Mar, 2010 | Pubmed ID: 20211137 Hes1 Expression is Reduced in Tbx1 Null Cells and is Required for the Development of Structures Affected in 22q11 Deletion Syndrome Developmental Biology. Apr, 2010 | Pubmed ID: 20122914 22q11 Deletion Syndrome: a Role for TBX1 in Pharyngeal and Cardiovascular Development Pediatric Cardiology. Apr, 2010 | Pubmed ID: 20054531 Great Vessel Development Requires Biallelic Expression of Chd7 and Tbx1 in Pharyngeal Ectoderm in Mice The Journal of Clinical Investigation. Nov, 2009 | Pubmed ID: 19855134 Tbx1 Controls Cardiac Neural Crest Cell Migration During Arch Artery Development by Regulating Gbx2 Expression in the Pharyngeal Ectoderm Development (Cambridge, England). Sep, 2009 | Pubmed ID: 19700621 Cardiac Phenotyping in Ex Vivo Murine Embryos Using MicroMRI NMR in Biomedicine. Oct, 2009 | Pubmed ID: 19598179 Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner PloS One. Jun, 2009 | Pubmed ID: 19557177 Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene American Journal of Human Genetics. May, 2009 | Pubmed ID: 19409524 Fras1, a Basement Membrane-associated Protein Mutated in Fraser Syndrome, Mediates Both the Initiation of the Mammalian Kidney and the Integrity of Renal Glomeruli Human Molecular Genetics. Dec, 2008 | Pubmed ID: 18787044 Fraser Syndrome: a Clinical Study of 59 Cases and Evaluation of Diagnostic Criteria American Journal of Medical Genetics. Part A. Dec, 2007 | Pubmed ID: 18000968 IFT80, Which Encodes a Conserved Intraflagellar Transport Protein, is Mutated in Jeune Asphyxiating Thoracic Dystrophy Nature Genetics. Jun, 2007 | Pubmed ID: 17468754 Cyp26 Genes A1, B1 and C1 Are Down-regulated in Tbx1 Null Mice and Inhibition of Cyp26 Enzyme Function Produces a Phenocopy of DiGeorge Syndrome in the Chick Human Molecular Genetics. Dec, 2006 | Pubmed ID: 17047027 Tbx1 Haploinsufficiency is Linked to Behavioral Disorders in Mice and Humans: Implications for 22q11 Deletion Syndrome Proceedings of the National Academy of Sciences of the United States of America. May, 2006 | Pubmed ID: 16684884 Hyperdynamic Plasticity of Chromatin Proteins in Pluripotent Embryonic Stem Cells Developmental Cell. Jan, 2006 | Pubmed ID: 16399082 Familial Gigantism Caused by an NSD1 Mutation American Journal of Medical Genetics. Part A. Nov, 2005 | Pubmed ID: 16222665 Identification of Mutations in CUL7 in 3-M Syndrome Nature Genetics. Oct, 2005 | Pubmed ID: 16142236 Microarray Analysis Detects Differentially Expressed Genes in the Pharyngeal Region of Mice Lacking Tbx1 Developmental Biology. Sep, 2005 | Pubmed ID: 16109395 Identification of a New Gene Mutated in Fraser Syndrome and Mouse Myelencephalic Blebs Nature Genetics. May, 2005 | Pubmed ID: 15838507 Neonatal Epileptic Encephalopathy Caused by Mutations in the PNPO Gene Encoding Pyridox(am)ine 5'-phosphate Oxidase Human Molecular Genetics. Apr, 2005 | Pubmed ID: 15772097 XTbx1 is a Transcriptional Activator Involved in Head and Pharyngeal Arch Development in Xenopus Laevis Developmental Dynamics : an Official Publication of the American Association of Anatomists. Apr, 2005 | Pubmed ID: 15736267 Retinoic Acid Down-regulates Tbx1 Expression in Vivo and in Vitro Developmental Dynamics : an Official Publication of the American Association of Anatomists. Apr, 2005 | Pubmed ID: 15736167 Common Arterial Trunk Associated with a Homeodomain Mutation of NKX2.6 Human Molecular Genetics. Mar, 2005 | Pubmed ID: 15649947 Evolving Concepts in Human Renal Dysplasia Journal of the American Society of Nephrology : JASN. Apr, 2004 | Pubmed ID: 15034102 A Direct Functional Link Between the Multi-PDZ Domain Protein GRIP1 and the Fraser Syndrome Protein Fras1 Nature Genetics. Feb, 2004 | Pubmed ID: 14730302 Evaluation of Multiplex Capillary Heteroduplex Analysis: a Rapid and Sensitive Mutation Screening Technique Human Mutation. Aug, 2003 | Pubmed ID: 12872256 Fras1 Deficiency Results in Cryptophthalmos, Renal Agenesis and Blebbed Phenotype in Mice Nature Genetics. Jun, 2003 | Pubmed ID: 12766770 Fraser Syndrome and Mouse Blebbed Phenotype Caused by Mutations in FRAS1/Fras1 Encoding a Putative Extracellular Matrix Protein Nature Genetics. Jun, 2003 | Pubmed ID: 12766769 Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome American Journal of Human Genetics. May, 2003 | Pubmed ID: 12677556 An I47L Substitution in the HOXD13 Homeodomain Causes a Novel Human Limb Malformation by Producing a Selective Loss of Function Development (Cambridge, England). Apr, 2003 | Pubmed ID: 12620993 Pseudodominant Inheritance of Langer Mesomelic Dysplasia Caused by a SHOX Homeobox Missense Mutation American Journal of Medical Genetics. Jun, 2002 | Pubmed ID: 12116253 BBS4 is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance American Journal of Human Genetics. Jul, 2002 | Pubmed ID: 12016587 A HOXA13 Allele with a Missense Mutation in the Homeobox and a Dinucleotide Deletion in the Promoter Underlies Guttmacher Syndrome Human Mutation. May, 2002 | Pubmed ID: 11968094 Targeted Mutagenesis of the Hira Gene Results in Gastrulation Defects and Patterning Abnormalities of Mesoendodermal Derivatives Prior to Early Embryonic Lethality Molecular and Cellular Biology. Apr, 2002 | Pubmed ID: 11884616 A 117-kb Microdeletion Removing HOXD9-HOXD13 and EVX2 Causes Synpolydactyly American Journal of Human Genetics. Feb, 2002 | Pubmed ID: 11778160 Analysis of Coronary Vessels in Cleared Embryonic Hearts Sarah Ivins1, Catherine Roberts1, Bertrand Vernay2, Peter J. Scambler1 1Developmental Biology of Birth Defects, UCL Institute of Child Health, 2MRC Centre for Regenerative Medicine, SCRM Building, University of Edinburgh JoVE 54800 Biologie du développement
Analysis of Coronary Vessels in Cleared Embryonic Hearts Sarah Ivins1, Catherine Roberts1, Bertrand Vernay2, Peter J. Scambler1 1Developmental Biology of Birth Defects, UCL Institute of Child Health, 2MRC Centre for Regenerative Medicine, SCRM Building, University of Edinburgh JoVE 54800 Biologie du développement