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dc.contributor.authorSérgio B. Sousaen_US
dc.contributor.authorDagan Jenkinsen_US
dc.contributor.authorEstelle Chanudeten_US
dc.contributor.authorGuergana Tassevaen_US
dc.contributor.authorMiho Ishidaen_US
dc.contributor.authorGlenn Andersonen_US
dc.contributor.authorJames Dockeren_US
dc.contributor.authorMina Rytenen_US
dc.contributor.authorJoaquim Saen_US
dc.contributor.authorJorge M. Saraivaen_US
dc.contributor.authorAngela Barnicoaten_US
dc.contributor.authorRichard Scotten_US
dc.contributor.authorAlistair Calderen_US
dc.contributor.authorDuangrurdee Wattanasirichaigoonen_US
dc.contributor.authorKrystyna Chrzanowskaen_US
dc.contributor.authorMartina Simandlováen_US
dc.contributor.authorLionel Van Maldergemen_US
dc.contributor.authorPhilip Stanieren_US
dc.contributor.authorPhilip L. Bealesen_US
dc.contributor.authorJean E. Vanceen_US
dc.contributor.authorGudrun E. Mooreen_US
dc.contributor.otherUCL Institute of Child Healthen_US
dc.contributor.otherCentro Hospitalar e Universitario de Coimbraen_US
dc.contributor.otherUniversity of Albertaen_US
dc.contributor.otherUCLen_US
dc.contributor.otherUCL Institute of Neurologyen_US
dc.contributor.otherUniversidade de Coimbra, Faculdade de Medicinaen_US
dc.contributor.otherMahidol Universityen_US
dc.contributor.otherInstytut Pomnik-Centrum Zdrowia Dzieckaen_US
dc.contributor.otherFakultni Nemocnice v Motoleen_US
dc.contributor.otherUniversite de Franche-Comteen_US
dc.date.accessioned2018-11-09T02:01:06Z-
dc.date.available2018-11-09T02:01:06Z-
dc.date.issued2014-01-01en_US
dc.identifier.citationNature Genetics. Vol.46, No.1 (2014), 70-76en_US
dc.identifier.issn15461718en_US
dc.identifier.issn10614036en_US
dc.identifier.other2-s2.0-84891373792en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84891373792&origin=inwarden_US
dc.identifier.urihttp://repository.li.mahidol.ac.th/dspace/handle/123456789/33503-
dc.description.abstractLenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism. © 2014 Nature America, Inc.en_US
dc.rightsMahidol Universityen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84891373792&origin=inwarden_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.titleGain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeen_US
dc.typeArticleen_US
dc.rights.holderSCOPUSen_US
dc.identifier.doi10.1038/ng.2829en_US
Appears in Collections:Scopus 2011-2015

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