Peter J. Scambler

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