Otosclerosis Associated with a De Novo Mutation −832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep29572.pdf
Reference19 articles.
1. Schrauwen, I. et al. Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res 23, 507–16 (2008).
2. Karosi, T., Szekanecz, Z. & Sziklai, I. Otosclerosis: an autoimmune disease? Autoimmun Rev 9, 95–101 (2009).
3. Priyadarshi, S. et al. Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility. J Bone Miner Res 28, 2490–7 (2013).
4. Thys, M. et al. The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet 16, 2021–30 (2007).
5. Thys, M. et al. Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. Ann Hum Genet 73, 171–5 (2009).
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2. Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure;Nature Communications;2023-01-18
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