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Swan, A.L.* ; Schütt, C. ; Rozman, J. ; Del Mar Muñiz Moreno, M.* ; Brandmaier, S. ; Simon, M.* ; Leuchtenberger, S. ; Griffiths, M.* ; Brommage, R. ; Keskivali-Bond, P.* ; Grallert, H. ; Werner, T.* ; Teperino, R. ; Becker, L. ; Miller, G. ; Moshiri, A.* ; Seavitt, J.R.* ; Cissell, D.D.* ; Meehan, T.F.* ; Acar, E.F.* ; Lelliott, C.J.* ; Flenniken, A.M.* ; Champy, M.F.* ; Sorg, T.* ; Ayadi, A.* ; Braun, R.E.* ; Cater, H.* ; Dickinson, M.E.* ; Flicek, P.* ; Gallegos, J.* ; Ghirardello, E.J.* ; Heaney, J.D.* ; Jacquot, S.* ; Lally, C.* ; Logan, J.G.* ; Teboul, L.* ; Mason, J.* ; Spielmann, N. ; McKerlie, C.* ; Murray, S.A.* ; Nutter, L.M.J.* ; Odfalk, K.F.* ; Parkinson, H.* ; Prochazka, J.* ; Reynolds, C.L.* ; Selloum, M.* ; Spoutil, F.* ; Svenson, K.L.* ; Vales, T.S.* ; Wells, S.E.* ; White, J.K.* ; Sedlacek, R.* ; Wurst, W. ; Lloyd, K.K.C.* ; Croucher, P.I.* ; Fuchs, H. ; Williams, G.R.* ; Bassett, D.* ; Gailus-Durner, V. ; Herault, Y.* ; Mallon, A.M.* ; Brown, S.D.M.* ; Mayer-Kuckuk, P. ; Hrabě de Angelis, M. ; IMPC Consortium (Aguilar-Pimentel, J.A. ; Amarie, O.V. ; Bürger, A. ; Calzada-Wack, J. ; Cho, Y.-L. ; Giesert, F.H.H. ; Garrett, L. ; Graw, J. ; Hörlein, A. ; Hölter, S.M. ; Klein-Rodewald, T. ; Kühn, R. ; Lengger, C. ; Marschall, S. ; Rathkolb, B. ; Sanz-Moreno, A. ; Seisenberger, C. ; Steinkamp, R. ; Stöger, C. ; Treise, I. ; Zimprich, A.) ; Beckers, J.

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.

PLoS Genet. 16:e1009190 (2020)
Publ. Version/Full Text DOI
Open Access Gold
Creative Commons Lizenzvertrag
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is frequently altered in a range of bone pathologies, including osteoporosis. A total of 200 genes were found to significantly affect BMD. This pool of BMD genes comprised 141 genes with previously unknown functions in bone biology and was complementary to pools derived from recent human studies. Nineteen of the 141 genes also caused skeletal abnormalities. Examination of the BMD genes in osteoclasts and osteoblasts underscored BMD pathways, including vesicle transport, in these cells and together with in silico bone turnover studies resulted in the prioritization of candidate genes for further investigation. Overall, the results add novel pathophysiological and molecular insight into bone health and disease.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association; Osteogenesis Imperfecta; Animal-models; Sex; Collagen; Differentiation; Identification; Metaanalysis; Discovery; Mutation
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Journal PLoS Genetics
Quellenangaben Volume: 16, Issue: 12, Pages: , Article Number: e1009190 Supplement: ,
Publisher Public Library of Science (PLoS)
Publishing Place 1160 Battery Street, Ste 100, San Francisco, Ca 94111 Usa
Reviewing status Peer reviewed
Grants NHGRI NIH HHS