M
M Dioszegi
Publications - 2
Citations - 1803
M Dioszegi is an academic researcher. The author has contributed to research in topics: Blosozumab & Positional cloning. The author has an hindex of 2, co-authored 2 publications receiving 1707 citations.
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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Wendy Balemans,Martin Ebeling,N Patel,E Van Hul,P Olson,M Dioszegi,C Lacza,Wim Wuyts,J Van den Ende,Patrick Willems,AF Paes-Alves,Suvimol Hill,Manuel Bueno,Feliciano J. Ramos,Paolo Tacconi,Frederik G. Dikkers,Constantine A. Stratakis,Klaus Lindpaintner,B Vickery,Dorothee Foernzler,W. Van Hul +20 more
TL;DR: The SOST gene, which is mutated in sclerosteosis patients, encodes a protein with a signal peptide for secretion and a cysteine-knot motif that might become an important tool in the development of therapeutic strategies for osteoporosis.
Journal ArticleDOI
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.
Wendy Balemans,N Patel,Martin Ebeling,E Van Hul,Wim Wuyts,C Lacza,M Dioszegi,Frederik G. Dikkers,P Hildering,Patrick Willems,Jbgm Verheij,Klaus Lindpaintner,B Vickery,Dorothee Foernzler,W. Van Hul +14 more
TL;DR: The present study focuses on the identification of a 52 kb deletion in all patients from the van Buchem family, and hypothesise that the presence of the deletion leads to a down regulation of the transcription of the SOST gene by a cis regulatory action or a position effect.