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dc.contributor.authorDe Franco, Elisaen
dc.contributor.authorWatson, Rachel Aen
dc.contributor.authorWeninger, Wolfgang Jen
dc.contributor.authorWong, Chi Cen
dc.contributor.authorFlanagan, Sarah Een
dc.contributor.authorCaswell, Richarden
dc.contributor.authorGreen, Angelaen
dc.contributor.authorTudor, Catherineen
dc.contributor.authorLelliott, Christopher Jen
dc.contributor.authorGeyer, Stefan Hen
dc.contributor.authorMaurer-Gesek, Barbaraen
dc.contributor.authorReissig, Lukas Fen
dc.contributor.authorLango Allen, Hanaen
dc.contributor.authorCaliebe, Almuthen
dc.contributor.authorSiebert, Reineren
dc.contributor.authorHolterhus, Paul Martinen
dc.contributor.authorDeeb, Asmaen
dc.contributor.authorPrin, Fabriceen
dc.contributor.authorHilbrands, Roberten
dc.contributor.authorHeimberg, Harryen
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew Ten
dc.contributor.authorBarroso, Inesen
dc.date.accessioned2019-03-29T00:31:03Z
dc.date.available2019-03-29T00:31:03Z
dc.date.issued2019-05en
dc.identifier.issn0002-9297
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/290948
dc.description.abstractWe report a recurrent CNOT1 de novo missense mutation, NM_016284.4:c.1603C>T, p.(Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype in mice. CNOT1 is a transcriptional repressor which has been suggested as being critical for maintaining embryonic stem cells in a pluripotent state. These findings suggest that CNOT1 plays a critical role in pancreatic and neurological development and describe a novel genetic syndrome of pancreatic agenesis and holoprosencephaly.
dc.description.sponsorshipIB is funded by Wellcome (WT206194). ATH and SE are the recipients of a Wellcome Trust Senior Investigator award and ATH is employed as a core member of staff within the NIHR funded Exeter Clinical Research Facility and is an NIHR senior investigator. EDF was a Naomi Berrie Fellow in Diabetes Research during the study. SEF has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (Grant Number: 105636/Z/14/Z). CCW holds a Wellcome Trust Intermediate Clinical Fellowship (Grant Number: 105914/Z/14/Z). HH is funded by the Research Foundation-Flanders (FWO), the VUB Research Council and Stichting Diabetes Onderzoek Nederland.
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.publisherCell Press
dc.rightsAll rights reserved
dc.rights.uri
dc.subjectPancreasen
dc.subjectAnimalsen
dc.subjectMice, Knockouten
dc.subjectHumansen
dc.subjectMiceen
dc.subjectHoloprosencephalyen
dc.subjectPancreatic Diseasesen
dc.subjectNervous System Diseasesen
dc.subjectInfant, Newborn, Diseasesen
dc.subjectSyndromeen
dc.subjectTranscription Factorsen
dc.subjectPedigreeen
dc.subjectDevelopmental Disabilitiesen
dc.subjectAmino Acid Sequenceen
dc.subjectSequence Homologyen
dc.subjectPhenotypeen
dc.subjectMutationen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectFemaleen
dc.subjectMaleen
dc.subjectEmbryo, Mammalianen
dc.titleA Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.en
dc.typeArticle
prism.endingPage989
prism.issueIdentifier5en
prism.publicationDate2019en
prism.publicationNameAmerican journal of human geneticsen
prism.startingPage985
prism.volume104en
dc.identifier.doi10.17863/CAM.38127
dcterms.dateAccepted2019-03-18en
rioxxterms.versionofrecord10.1016/j.ajhg.2019.03.018en
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2019-05en
dc.contributor.orcidWeninger, Wolfgang J [0000-0003-0575-0073]
dc.contributor.orcidCaswell, Richard [0000-0003-0713-4602]
dc.contributor.orcidGeyer, Stefan H [0000-0003-2283-4439]
dc.contributor.orcidLango Allen, Hana [0000-0002-7803-8688]
dc.contributor.orcidCaliebe, Almuth [0000-0003-2157-425X]
dc.contributor.orcidHilbrands, Robert [0000-0003-0228-699X]
dc.contributor.orcidHeimberg, Harry [0000-0003-1954-7375]
dc.contributor.orcidBarroso, Ines [0000-0001-5800-4520]
dc.identifier.eissn1537-6605
rioxxterms.typeJournal Article/Reviewen
cam.orpheus.successThu Jan 30 10:48:08 GMT 2020 - Embargo updated*
rioxxterms.freetoread.startdate2019-11-30


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