Peter J. Scambler

Developmental Biology of Birth Defects, UCL Institute of Child Health

Affiliated withUCL Institute of Child Health

Research Area

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 11	2016

Other Publications

Article	Year
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. American journal of human genetics\| PubMed ID: 11778160	2002
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\| PubMed ID: 11884616	2002
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Human mutation\| PubMed ID: 11968094	2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. American journal of human genetics\| PubMed ID: 12016587	2002
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. American journal of medical genetics\| PubMed ID: 12116253	2002
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development (Cambridge, England)\| PubMed ID: 12620993	2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. American journal of human genetics\| PubMed ID: 12677556	2003
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nature genetics\| PubMed ID: 12766769	2003
Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nature genetics\| PubMed ID: 12766770	2003
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. Human mutation\| PubMed ID: 12872256	2003
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nature genetics\| PubMed ID: 14730302	2004
Evolving concepts in human renal dysplasia. Journal of the American Society of Nephrology : JASN\| PubMed ID: 15034102	2004
Common arterial trunk associated with a homeodomain mutation of NKX2.6. Human molecular genetics\| PubMed ID: 15649947	2005
Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Developmental dynamics : an official publication of the American Association of Anatomists\| PubMed ID: 15736167	2005
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\| PubMed ID: 15736267	2005
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Human molecular genetics\| PubMed ID: 15772097	2005
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nature genetics\| PubMed ID: 15838507	2005
Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. Developmental biology\| PubMed ID: 16109395	2005
Identification of mutations in CUL7 in 3-M syndrome. Nature genetics\| PubMed ID: 16142236	2005
Familial gigantism caused by an NSD1 mutation. American journal of medical genetics. Part A\| PubMed ID: 16222665	2005
Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells. Developmental cell\| PubMed ID: 16399082	2006
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\| PubMed ID: 16684884	2006
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\| PubMed ID: 17047027	2006
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature genetics\| PubMed ID: 17468754	2007
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. American journal of medical genetics. Part A\| PubMed ID: 18000968	2007
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\| PubMed ID: 18787044	2008
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. American journal of human genetics\| PubMed ID: 19409524	2009
Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PloS one\| PubMed ID: 19557177	2009
Cardiac phenotyping in ex vivo murine embryos using microMRI. NMR in biomedicine\| PubMed ID: 19598179	2009
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development (Cambridge, England)\| PubMed ID: 19700621	2009
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. The Journal of clinical investigation\| PubMed ID: 19855134	2009
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatric cardiology\| PubMed ID: 20054531	2010
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Developmental biology\| PubMed ID: 20122914	2010
Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell\| PubMed ID: 20211137	2010
Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping. NeuroImage\| PubMed ID: 20656039	2011
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Human molecular genetics\| PubMed ID: 21227999	2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature genetics\| PubMed ID: 21258341	2011
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. Human molecular genetics\| PubMed ID: 21262861	2011
Endogenous retinoic acid activity in principal cells and intercalated cells of mouse collecting duct system. PloS one\| PubMed ID: 21326615	2011
Expression of Fraser syndrome genes in normal and polycystic murine kidneys. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 21993971	2012
Mutations in GRIP1 cause Fraser syndrome. Journal of medical genetics\| PubMed ID: 22510445	2012
Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation. Magnetic resonance in medicine\| PubMed ID: 22556102	2013
Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele. Genesis (New York, N.Y. : 2000)\| PubMed ID: 22730198	2012
Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling. Circulation research\| PubMed ID: 23011393	2013
Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. Journal of the American Society of Nephrology : JASN\| PubMed ID: 23064016	2012
Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology. Magnetic resonance in medicine\| PubMed ID: 23213043	2013
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Human mutation\| PubMed ID: 23255504	2013
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. American journal of human genetics\| PubMed ID: 23261303	2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Human mutation\| PubMed ID: 23418020	2013
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\| PubMed ID: 23456818	2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American journal of human genetics\| PubMed ID: 23910462	2013
A coming of age: advanced imaging technologies for characterising the developing mouse. Trends in genetics : TIG\| PubMed ID: 24035368	2013
Novel exomphalos genetic mouse model: the importance of accurate phenotypic classification. Journal of pediatric surgery\| PubMed ID: 24094954	2013
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American journal of human genetics\| PubMed ID: 24140113	2013
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. American journal of human genetics\| PubMed ID: 24183451	2013
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\| PubMed ID: 24203976	2014
Hearing loss in a mouse model of 22q11.2 Deletion Syndrome. PloS one\| PubMed ID: 24244619	2013
Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. eLife\| PubMed ID: 24368733	2013
Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model. Magnetic resonance in medicine\| PubMed ID: 24634098	2015
HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region. Circulation research\| PubMed ID: 24748541	2014
CHD7 maintains neural stem cell quiescence and prevents premature stem cell depletion in the adult hippocampus. Stem cells (Dayton, Ohio)\| PubMed ID: 25183173	2015
In amnio MRI of mouse embryos. PloS one\| PubMed ID: 25330230	2014
Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1. The Journal of biological chemistry\| PubMed ID: 25847244	2015
The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development. Developmental cell\| PubMed ID: 26017770	2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature communications\| PubMed ID: 26044572	2015
Neural crest-derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation. The Journal of clinical investigation\| PubMed ID: 26053665	2015
A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development. Developmental biology\| PubMed ID: 26102480	2015
Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect. Prenatal diagnosis\| PubMed ID: 26338284	2015
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature communications\| PubMed ID: 27021811	2016
22q11.2 deletion syndrome. Nature reviews. Disease primers\| PubMed ID: 27189754	2015
Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus. Early human development\| PubMed ID: 27405055	2016
HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3. PloS one\| PubMed ID: 27518902	2016