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Bowl, M.R.* ; Simon,  M.M.* ; Ingham, N.J.* ; Greenaway, S.* ; Santos, L.* ; Cater, H.* ; Taylor, S.* ; Mason, J.* ; Kurbatova, N.* ; Pearson, S.* ; Bower, L.R.* ; Clary, D.* ; Meziane, H.* ; Reilly, P.* ; Minowa, O.* ; Kelsey, L.* ; Tocchini-Valentini, G.P.* ; Gao, X.* ; Bradley, A.* ; Skarnes, W.C.* ; Moore, M.* ; Beaudet, A.L.* ; Justice, M.J.* ; Seavitt, J.R.* ; Dickinson, M.E.* ; Wurst, W. ; Hrabě de Angelis, M. ; Herault, Y.* ; Wakana, S.* ; Nutter, L.M.J.* ; Flenniken, A.M.* ; McKerlie, C.* ; Murray, S.A.* ; Svenson, K.L.* ; Braun, R.E.* ; West, D.B.* ; Llyod, K.C.K.* ; Adams, D.J.* ; White, J.* ; Karp, N.* ; Flicek, P.* ; Smedley, D.* ; Meehan, T.F.* ; Parkinson, H.E.* ; Teboul, L.* ; Wells, S.* ; Steel, K.P.* ; Mallon, A.M.* ; Brown, S.D.* ; International Mouse Phenotyping Consortium (Beig, J. ; Bürger, A. ; Giesert, F. ; Graw, J. ; Kühn, R. ; Oritz, O. ; Schick, J. ; Seisenberger, C. ; Amarie, O.V. ; Garrett, L. ; Hölter, S.M. ; Zimprich, A. ; Aguilar-Pimentel, J.A. ; Beckers, J. ; Brommage, R. ; Calzada-Wack, J. ; Fuchs, H. ; Gailus-Durner, V. ; Lengger, C. ; Leuchtenberger, S. ; Maier, H. ; Marschall, S. ; Moreth, K. ; Neff, F. ; Östereicher, M.A. ; Rozman, J. ; Steinkamp, R. ; Stoeger, C. ; Treise, I. ; Stöger, T. ; Yildirim, A.Ö. ; Becker, L. ; Rathkolb, B. ; Eickelberg, O. ; Schmidt-Weber, C.B.)

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

Nat. Commun. 8:886 (2017)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Otitis-media; Genome-wide; Hair-cells; Mouse; Impairment; Mutagenesis; Resource; Mutation; Disease; Project
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 8, Heft: 1, Seiten: , Artikelnummer: 886 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Developmental Genetics (IDG)
Institute of Experimental Genetics (IEG)
Lung Health and Immunity (LHI)
Institute of Lung Biology (LHI)
Institute for Allergy Research (IAF)
Institute of Molecular Toxicology and Pharmacology (TOXI)