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A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

dc.contributor.authorDe Franco, E
dc.contributor.authorWatson, RA
dc.contributor.authorWeninger, WJ
dc.contributor.authorWong, CC
dc.contributor.authorFlanagan, SE
dc.contributor.authorCaswell, R
dc.contributor.authorGreen, A
dc.contributor.authorTudor, C
dc.contributor.authorLelliott, CJ
dc.contributor.authorGeyer, SH
dc.contributor.authorMaurer-Gesek, B
dc.contributor.authorReissig, LF
dc.contributor.authorAllen, HL
dc.contributor.authorCaliebe, A
dc.contributor.authorSiebert, R
dc.contributor.authorHolterhus, PM
dc.contributor.authorDeeb, A
dc.contributor.authorPrin, F
dc.contributor.authorHilbrands, R
dc.contributor.authorHeimberg, H
dc.contributor.authorEllard, S
dc.contributor.authorHattersley, AT
dc.contributor.authorBarroso, I
dc.date.accessioned2019-04-04T11:20:28Z
dc.date.issued2019-04-18
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.en_GB
dc.description.sponsorshipWellcome Trusten_GB
dc.description.sponsorshipRoyal Societyen_GB
dc.description.sponsorshipResearch Foundation-Flanders (FWO)en_GB
dc.description.sponsorshipVUB Research Councilen_GB
dc.description.sponsorshipStichting Diabetes Onderzoek Nederlanden_GB
dc.identifier.citationVol. 5 , pp. 985-989en_GB
dc.identifier.doi10.1016/j.ajhg.2019.03.018
dc.identifier.grantnumberWT206194en_GB
dc.identifier.grantnumber105636/Z/14/Zen_GB
dc.identifier.grantnumber105914/Z/14/Zen_GB
dc.identifier.urihttp://hdl.handle.net/10871/36728
dc.language.isoenen_GB
dc.publisherElsevier (Cell Press)en_GB
dc.rights© 2019 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
dc.titleA specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological developmenten_GB
dc.typeArticleen_GB
dc.date.available2019-04-04T11:20:28Z
dc.identifier.issn0002-9297
dc.descriptionThis is the final version. Available on open access from Elsevier via the DOI in this recorden_GB
dc.identifier.journalAmerican Journal of Human Geneticsen_GB
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_GB
dcterms.dateAccepted2019-03-19
rioxxterms.versionVoRen_GB
rioxxterms.licenseref.startdate2019-03-19
rioxxterms.typeJournal Article/Reviewen_GB
refterms.dateFCD2019-04-04T09:50:17Z
refterms.versionFCDAM
refterms.dateFOA2019-05-13T13:21:14Z
refterms.panelAen_GB


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© 2019 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Except where otherwise noted, this item's licence is described as © 2019 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).