Peter J Scambler

Peter J Scambler

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Peter J Scambler

Publications by authors named "Peter J Scambler"

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HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells.

Mol Biol Rep 2018 Oct 20;45(5):1001-1011. Epub 2018 Jul 20.

Developmental Biology of Birth Defects Section, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/s11033-018-4247-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156767PMC
October 2018

Molecular genetics of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.40504
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http://dx.doi.org/10.1002/ajmg.a.40504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214629PMC
October 2018

Defective Vagal Innervation in Murine Mutant Hearts.

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.3390/jcdd5040049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306933PMC
September 2018

Activation of podocyte Notch mediates early Wt1 glomerulopathy.

Kidney Int 2018 04 2;93(4):903-920. Epub 2018 Feb 2.

Programme of Developmental Biology of Birth Defects, Great Ormond Street Institute of Child Health, University College of London, London, UK; Great Ormond Street Hospital NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169130PMC
April 2018

HIC2 regulates isoform switching during maturation of the cardiovascular system.

J Mol Cell Cardiol 2018 01 20;114:29-37. Epub 2017 Oct 20.

Institute of Child Health, University College London, 30 Guilford St, London WC1N 1EH, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S00222828173033
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http://dx.doi.org/10.1016/j.yjmcc.2017.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807030PMC
January 2018

Clinical and molecular effects of CHD7 in the heart.

Am J Med Genet C Semin Med Genet 2017 12 31;175(4):487-495. Epub 2017 Oct 31.

UCL Great Ormond Street Institute of Child Health, Section Developmental Biology of Birth Defects, London, UK.

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http://dx.doi.org/10.1002/ajmg.c.31590DOI Listing
December 2017

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3.

PLoS One 2016 12;11(8):e0161096. Epub 2016 Aug 12.

Developmental Biology of Birth Defects Section, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161096PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982693PMC
August 2017

Analysis of Coronary Vessels in Cleared Embryonic Hearts.

J Vis Exp 2016 12 7(118). Epub 2016 Dec 7.

Developmental Biology of Birth Defects, UCL Institute of Child Health.

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http://dx.doi.org/10.3791/54800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226364PMC
December 2016

Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus.

Early Hum Dev 2016 10 9;101:39-48. Epub 2016 Jul 9.

Department of Obstetrics and Gynecology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2016.05.017DOI Listing
October 2016

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development.

Dev Biol 2015 Sep 21;405(1):82-95. Epub 2015 Jun 21.

Developmental Biology of Birth Defects Section, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2015.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534312PMC
September 2015

In amnio MRI of mouse embryos.

PLoS One 2014 15;9(10):e109143. Epub 2014 Oct 15.

UCL Centre for Advanced Biomedical Imaging, Division of Medicine, University College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109143PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198080PMC
June 2015

Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1.

J Biol Chem 2015 May 6;290(21):13053-63. Epub 2015 Apr 6.

From the Cancer Research Program, Rajiv Gandhi Centre for Biotechnology, Thycaud PO, Poojappura, Thiruvananthapuram, 695 014 Kerala, India and

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http://dx.doi.org/10.1074/jbc.M114.615492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505562PMC
May 2015

The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development.

Dev Cell 2015 May;33(4):455-68

Developmental Biology of Birth Defects, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.devcel.2015.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448146PMC
May 2015

Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.

Magn Reson Med 2015 Feb 13;73(2):731-9. Epub 2014 Mar 13.

UCL Centre for Advanced Biomedical Imaging, Division of Medicine, University College London, London, United Kingdom; Centre for Mathematics and Physics in the Life Sciences and EXperimental Biology (CoMPLEX), University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/mrm.25145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737188PMC
February 2015

CHD7 maintains neural stem cell quiescence and prevents premature stem cell depletion in the adult hippocampus.

Stem Cells 2015 Jan;33(1):196-210

King's College London, Department of Craniofacial Development and Stem Cell Biology, Guy's Hospital Tower Wing, London, UK.

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http://doi.wiley.com/10.1002/stem.1822
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http://dx.doi.org/10.1002/stem.1822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952591PMC
January 2015

Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.

PLoS One 2013 14;8(11):e80104. Epub 2013 Nov 14.

Craniofacial Development & Stem Cell Biology, King's College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080104PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828191PMC
August 2014

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

Circ Res 2014 Jun 18;115(1):23-31. Epub 2014 Apr 18.

From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom.

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.115.30330
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http://dx.doi.org/10.1161/CIRCRESAHA.115.303300DOI Listing
June 2014

A coming of age: advanced imaging technologies for characterising the developing mouse.

Trends Genet 2013 Dec 12;29(12):700-11. Epub 2013 Sep 12.

University College London (UCL) Centre for Advanced Biomedical Imaging, Division of Medicine, UCL, London, UK; Centre for Mathematics and Physics in the Life Sciences and Experimental Biology (CoMPLEX), UCL, London, UK.

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http://www.cell.com/trends/genetics/pdf/S0168-9525(13)00143-
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http://linkinghub.elsevier.com/retrieve/pii/S016895251300143
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http://dx.doi.org/10.1016/j.tig.2013.08.004DOI Listing
December 2013

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Elife 2013 Dec 24;2:e01305. Epub 2013 Dec 24.

Department of Craniofacial Development and Stem Cell Biology, King's College London, London, United Kingdom.

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http://dx.doi.org/10.7554/eLife.01305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870572PMC
December 2013

Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology.

Magn Reson Med 2013 Nov 4;70(5):1380-8. Epub 2012 Dec 4.

Department of Medicine and UCL Institute of Child Health, Centre for Advanced Biomedical Imaging, University College London, UK; Centre for Mathematics and Physics in the Life Sciences and EXperimental Biology (CoMPLEX), University College London, UK.

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http://dx.doi.org/10.1002/mrm.24573DOI Listing
November 2013

Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation.

Magn Reson Med 2013 Mar 3;69(3):877-83. Epub 2012 May 3.

Centre for Advanced Biomedical Imaging, Department of Medicine and UCL Institute of Child Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/mrm.24306DOI Listing
March 2013

Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling.

Circ Res 2013 Jan 25;112(1):90-102. Epub 2012 Sep 25.

UCL-ICH, 30 Guilford St, London WC1N 1EH, UK.

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http://dx.doi.org/10.1161/CIRCRESAHA.112.270223DOI Listing
January 2013

Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.

Genesis 2012 Dec 23;50(12):892-8. Epub 2012 Jul 23.

Molecular Medicine Unit, Institute of Child Health, University College London, United Kingdom.

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http://dx.doi.org/10.1002/dvg.22045DOI Listing
December 2012

Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.

J Am Soc Nephrol 2012 Nov 11;23(11):1790-6. Epub 2012 Oct 11.

Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1681/ASN.2012020146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482732PMC
November 2012

Mutations in GRIP1 cause Fraser syndrome.

J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2011-100590DOI Listing
May 2012

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Hum Mol Genet 2011 Apr 12;20(7):1306-14. Epub 2011 Jan 12.

Molecular Medicine Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddr013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049354PMC
April 2011

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Hum Mol Genet 2011 Apr 24;20(8):1547-59. Epub 2011 Jan 24.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddr032DOI Listing
April 2011

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Authors:
Peter J Scambler

Pediatr Cardiol 2010 Apr;31(3):378-90

Molecular Medicine Unit, Institute of Child Health, 30, Guilford St., London WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s00246-009-9613-0DOI Listing
April 2010

Cardiac phenotyping in ex vivo murine embryos using microMRI.

NMR Biomed 2009 Oct;22(8):857-66

Centre for Advanced Biomedical Imaging, Department of Medicine and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1002/nbm.1400DOI Listing
October 2009

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Hum Mol Genet 2008 Dec 11;17(24):3953-64. Epub 2008 Sep 11.

Nephro-Urology Unit, UCL Institute of Child Health, London WC1 N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddn297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638576PMC
December 2008

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

Am J Med Genet A 2007 Dec;143A(24):3194-203

Molecular Medicine Unit, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.31951DOI Listing
December 2007

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Nat Genet 2007 Jun 29;39(6):727-9. Epub 2007 Apr 29.

Molecular Medicine Unit, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1038/ng2038DOI Listing
June 2007

Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells.

Dev Cell 2006 Jan;10(1):105-16

National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1016/j.devcel.2005.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1868458PMC
January 2006

Familial gigantism caused by an NSD1 mutation.

Am J Med Genet A 2005 Nov;139(1):40-4

Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30973DOI Listing
November 2005

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

Dev Dyn 2005 Apr;232(4):928-38

Molecular Medicine Unit, Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.20268DOI Listing
April 2005

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.

Dev Dyn 2005 Apr;232(4):979-91

Molecular Medicine Unit, Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://doi.wiley.com/10.1002/dvdy.20276
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http://dx.doi.org/10.1002/dvdy.20276DOI Listing
April 2005

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Hum Mol Genet 2005 Apr 16;14(8):1077-86. Epub 2005 Mar 16.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddi120DOI Listing
April 2005

Common arterial trunk associated with a homeodomain mutation of NKX2.6.

Hum Mol Genet 2005 Mar 13;14(5):585-93. Epub 2005 Jan 13.

Department of Clinical Developmental Science, St George's Hospital Medical School, London, UK.

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http://dx.doi.org/10.1093/hmg/ddi055DOI Listing
March 2005

Evolving concepts in human renal dysplasia.

J Am Soc Nephrol 2004 Apr;15(4):998-1007

Nephro-Urology and Molecular Medicine Units, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1097/01.asn.0000113778.06598.6fDOI Listing
April 2004

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

Nat Genet 2004 Feb 18;36(2):172-7. Epub 2004 Jan 18.

Howard Hughes Medical Institute, Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng1292DOI Listing
February 2004

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hum Mutat 2003 Aug;22(2):151-7

Molecular Medicine Unit, Institute of Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.10241DOI Listing
August 2003

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

Nat Genet 2003 Jun;34(2):209-14

Institute of Molecular Biology and Biotechnology, FO.R.T.H., Heraklion 71110, Crete, Greece.

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http://dx.doi.org/10.1038/ng1168DOI Listing
June 2003

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.

Development 2003 Apr;130(8):1701-12

Department of Molecular Biology and Functional Genomics, DIBIT-H San Raffaele, Via Olgettina 58, 20132 Milano, Italy.

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http://dx.doi.org/10.1242/dev.00396DOI Listing
April 2003

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

Am J Med Genet 2002 Jun;110(2):153-7

Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/ajmg.10421DOI Listing
June 2002

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

Am J Hum Genet 2002 Feb 3;70(2):547-55. Epub 2002 Jan 3.

Molecular Medicine Unit, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1086/338921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384929PMC
February 2002