van Dijk, Fleur S., Zillikens, M. Carola, Micha, Dimitra ORCID: 0000-0001-7890-4411, Riessland, Markus ORCID: 0000-0003-2592-5045, Marcelis, Carlo L. M., de Die-Smulders, Christine E., Milbradt, Janine, Franken, Anton A., Harsevoort, Arjan J., Lichtenbelt, Klaske D., Pruijs, Hans E., Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M., Bakker, Astrid D., Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J., Verkerk, Annemieke J. M. H., Uitterlinden, Andre G., Maugeri, Alessandra, Sistermans, Erik A., Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Simon, Marleen E. H. and Pals, Gerard ORCID: 0000-0003-4091-7115 (2013). PLS3 Mutations in X-Linked Osteoporosis with Fractures. N. Engl. J. Med., 369 (16). S. 1529 - 1537. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

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Abstract

Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. This variant was also associated with a risk of fracture among elderly heterozygous women that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multi-factorial osteoporosis.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
van Dijk, Fleur S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zillikens, M. CarolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Micha, DimitraUNSPECIFIEDorcid.org/0000-0001-7890-4411UNSPECIFIED
Riessland, MarkusUNSPECIFIEDorcid.org/0000-0003-2592-5045UNSPECIFIED
Marcelis, Carlo L. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Die-Smulders, Christine E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milbradt, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franken, Anton A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harsevoort, Arjan J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lichtenbelt, Klaske D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pruijs, Hans E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rubio-Gozalbo, M. EstelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zwertbroek, RolfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moutaouakil, YoussefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Egthuijsen, JaquelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hammerschmidt, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bijman, RenateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Semeins, Cor M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bakker, Astrid D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Everts, VincentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klein-Nulend, JennekeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Campos-Obando, NataliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hofman, AlbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
te Meerman, Gerard J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Verkerk, Annemieke J. M. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uitterlinden, Andre G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maugeri, AlessandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sistermans, Erik A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Waisfisz, QuintenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meijers-Heijboer, HanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wirth, BrunhildeUNSPECIFIEDorcid.org/0000-0003-4051-5191UNSPECIFIED
Simon, Marleen E. H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pals, GerardUNSPECIFIEDorcid.org/0000-0003-4091-7115UNSPECIFIED
URN: urn:nbn:de:hbz:38-473955
DOI: 10.1056/NEJMoa1308223
Journal or Publication Title: N. Engl. J. Med.
Volume: 369
Number: 16
Page Range: S. 1529 - 1537
Date: 2013
Publisher: MASSACHUSETTS MEDICAL SOC
Place of Publication: WALTHAM
ISSN: 1533-4406
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ACTIN; PLASTINMultiple languages
Medicine, General & InternalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47395

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