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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

dc.contributor.authorSouthgate, Len_US
dc.contributor.authorMachado, RDen_US
dc.contributor.authorSnape, KMen_US
dc.contributor.authorPrimeau, Men_US
dc.contributor.authorDafou, Den_US
dc.contributor.authorRuddy, DMen_US
dc.contributor.authorBranney, PAen_US
dc.contributor.authorFisher, Men_US
dc.contributor.authorLee, GJen_US
dc.contributor.authorSimpson, MAen_US
dc.contributor.authorHe, Yen_US
dc.contributor.authorBradshaw, TYen_US
dc.contributor.authorBlaumeiser, Ben_US
dc.contributor.authorWinship, WSen_US
dc.contributor.authorReardon, Wen_US
dc.contributor.authorMaher, ERen_US
dc.contributor.authorFitzPatrick, DRen_US
dc.contributor.authorWuyts, Wen_US
dc.contributor.authorZenker, Men_US
dc.contributor.authorLamarche-Vane, Nen_US
dc.contributor.authorTrembath, RCen_US
dc.date.accessioned2016-03-21T10:02:43Z
dc.date.available2011-04-20en_US
dc.date.issued2011-05-13en_US
dc.identifier.issn0002-9297en_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/11530
dc.description.sponsorshipThis work was supported by grants from the British Heart Foundation (BHF) to R.C.T. (RG/08/006/25302), Wellcome Trust to E.R.M. and R.C.T. (078751/Z/05/Z), European Union Framework 6 award for PULMOTENSION (LSHM-CT-2005-018725), Canadian Institute of Health Research to N.L-V. (MOP-84449), and German Research Foundation to M.Z. (ZE 524/2-2). The authors acknowledge use of BRC Core Facilities provided by the financial support from the Department of Health via the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre award to Guy's and St Thomas' NHS Foundation Trust in partnership with King's College London and King's College Hospital NHS Foundation Trust. R.C.T. is a senior investigator at the NIHR. R.D.M. is a BHF Intermediate Research Fellow (FS/07/036). P.B. and M.F. are MRC career development fellows funded by the National Institute of Dental and Craniofacial Research (National Institutes of Health) Craniofacial Center Grant (P50 DE-16215-05). D.R.F. is a MRC senior clinician scientist. N.L-V. is a Fonds de la Recherche en Santé du Quebec chercheur-boursier senior.en_US
dc.format.extent574 - 585en_US
dc.relation.ispartofAM J HUM GENETen_US
dc.subjectRHO-GTPASESen_US
dc.subjectBETA-CATENINen_US
dc.subjectCELL BIOLOGYen_US
dc.subjectACTIVATIONen_US
dc.subjectWNTen_US
dc.subjectLOCALIZATIONen_US
dc.subjectEXPRESSIONen_US
dc.subjectDEFECTSen_US
dc.subjectBINDINGen_US
dc.subjectFAMILYen_US
dc.titleGain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomaliesen_US
dc.typeArticle
dc.rights.holderCopyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
dc.identifier.doi10.1016/j.ajhg.2011.04.013en_US
pubs.issue5en_US
pubs.notesNot knownen_US
pubs.volume88en_US


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