Involvement of T-cell receptor-β alterations in the development of otosclerosis linked to OTSC2

Autor: Kathleen Vanderstraeten, Niels Hellings, Erik Fransen, Paul J. Govaerts, L. Van Laer, Isabelle Schatteman, G. Van Camp, J.-J. Hendrickx, Isabelle Schrauwen, Melissa Thys, Koen Venken, Piet Stinissen, M. Verstreken

Publikováno v: Genes and immunity

Otosclerosis is a common form of hearing loss, characterized by disordered bone remodeling in the otic capsule. Within the otosclerotic foci, several immunocompetent cells and immune-modulating factors can be found. Different etiological theories inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b052b7ac9e405729d4f1d33867f972b
https://doi.org/10.1038/gene.2010.3

Phenotype description of a Dutch otosclerosis family with suggestive linkage toOTSC7

Autor: Frank B.M. Joosten, Guy Van Camp, Melissa Thys, Patrick L. M. Huygen, Robert J. Pauw, Cor W. R. J. Cremers

Publikováno v: American journal of medical genetics : part A

This study reports on a clinical investigation of a Dutch family that shows suggestive linkage to OTSC7. Cross-sectional as well as longitudinal analyses of audiometric data were performed. Also, high-resolution computed tomography (CT) images of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff8f89d78d5fea924968387034a1150
https://doi.org/10.1002/ajmg.a.31807

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis

Autor: Michael J. McKenna, Markus Pfister, Guy Van Camp, K. Fukushima, D. J. Mcbride, Melissa Thys, Richard J.H. Smith, Nicole C. Meyer, Wenjie Chen

Publikováno v: Clinical genetics

Otosclerosis (MIM 166800) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this ethnic group. Although measles virus, hormones, human leukocyte antigen alleles and genetic factors have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe7fc8a97431cde470363ed1bdec374
https://doi.org/10.1111/j.1399-0004.2007.00794.x

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24

Autor: E.M.R. De Leenheer, Melissa Thys, Wenjie Chen, Y Lee, Peter Nürnberg, C.W.R.J. Cremers, Richard J.H. Smith, K Van Den Bogaert, G. Van Camp, Ronald J.E. Pennings, Kathleen Vanderstraeten

Publikováno v: Journal of Medical Genetics, 41, 6, pp. 450-3
Journal of medical genetics
Journal of Medical Genetics, 41, 450-3
Scopus-Elsevier

Otosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer to inner ear is disturbed by this fixation, the disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba09ef18923e07f53cb3fd643d13dafb
https://doi.org/10.1136/jmg.2004.018671

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

Autor: Paul Van de Heyning, Megan Ealy, Robert Vincent, Richard J.H. Smith, Mireille Claustres, Guy Van Camp, Jason J. Corneveaux, Melissa Thys, Erik Fransen, Matthew J. Huentelman, Ingeborg Dhooge, David Craig, Nils Homer, Isabelle Schrauwen, C.W.R.J. Cremers, Erwin Offeciers, Kathleen Vanderstraeten

Publikováno v: American Journal of Human Genetics, 84, 328-38
American Journal of Human Genetics, 84, 3, pp. 328-38
The American journal of human genetics

Contains fulltext : 81392.pdf (Publisher’s version ) (Closed access) Otosclerosis is a common form of progressive hearing loss, characterized by abnormal bone remodeling in the otic capsule. The etiology of the disease is largely unknown, and both

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f4b0d48e0836f42a685725486853f6
http://hdl.handle.net/2066/81392