Literature DB >> 2692453

The genetics of otosclerosis: a review.

M A Gordon1.   

Abstract

Otosclerosis is a heritable disease affecting the otic capsule. Its genetics have been studied, but remain incompletely elucidated. Presented is a detailed analysis of the literature pertaining to the mode of inheritance and epidemiology of clinical and histologic otosclerosis. Consideration is given to connective tissue abnormalities found in association with the disease. The hypothesis that otosclerosis is an isolated manifestation of a generalized connective tissue disorder is discussed. The author also suggests that otosclerosis, rather than being a discrete entity, may represent a heterogeneous group of diseases.

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Year:  1989        PMID: 2692453     DOI: 10.1097/00129492-198911000-00003

Source DB:  PubMed          Journal:  Am J Otol        ISSN: 0192-9763


  12 in total

1.  The influence of measles vaccination on the incidence of otosclerosis in Germany.

Authors:  Wolfgang Arnold; Raymonde Busch; Andreas Arnold; Björn Ritscher; Albrecht Neiss; Hans Peter Niedermeyer
Journal:  Eur Arch Otorhinolaryngol       Date:  2007-02-13       Impact factor: 2.503

2.  A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.

Authors:  K Van Den Bogaert; P J Govaerts; I Schatteman; M R Brown; G Caethoven; F E Offeciers; T Somers; F Declau; P Coucke; P Van de Heyning; R J Smith; G Van Camp
Journal:  Am J Hum Genet       Date:  2001-01-16       Impact factor: 11.025

3.  HLA associations in otosclerosis in Japanese patients.

Authors:  T Miyazawa; C Tago; H Ueda; H Niwa; N Yanagita
Journal:  Eur Arch Otorhinolaryngol       Date:  1996       Impact factor: 2.503

4.  A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

Authors:  Allan Thomas Højland; Lisse J M Tavernier; Guy Van Camp; Erik Fransen; Isabelle Schrauwen; Manou Sommen; Vedat Topsakal; Isabelle Schatteman; Ingeborg Dhooge; Alex Huber; Diego Zanetti; Henricus P M Kunst; Alexander Hoischen; Michael B Petersen
Journal:  Hum Genet       Date:  2021-08-19       Impact factor: 4.132

Review 5.  Genetics of otosclerosis: finally catching up with other complex traits?

Authors:  Lisse J M Tavernier; Erik Fransen; Hanne Valgaeren; Guy Van Camp
Journal:  Hum Genet       Date:  2021-09-09       Impact factor: 4.132

Review 6.  [Current concepts in the surgical management of otosclerosis].

Authors:  A Minovi; G Probst; S Dazert
Journal:  HNO       Date:  2009-03       Impact factor: 1.284

7.  Gene expression analysis of human otosclerotic stapedial footplates.

Authors:  Megan Ealy; Wenjie Chen; Gi-Yung Ryu; Jae-Geun Yoon; D Bradley Welling; Marlan Hansen; Anup Madan; Richard J H Smith
Journal:  Hear Res       Date:  2008-03-15       Impact factor: 3.208

8.  Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

Authors:  W Chen; C A Campbell; G E Green; K Van Den Bogaert; C Komodikis; L S Manolidis; E Aconomou; Y Kyamides; K Christodoulou; C Faghel; C M Giguére; R L Alford; S Manolidis; G Van Camp; R J H Smith
Journal:  J Med Genet       Date:  2002-07       Impact factor: 6.318

9.  The Epidemiology of Otosclerosis in a British Cohort.

Authors:  Michael Crompton; Barbara A Cadge; Joanna L Ziff; Andrew J Mowat; Robert Nash; Jeremy A Lavy; Harry R F Powell; Christopher P Aldren; Shakeel R Saeed; Sally J Dawson
Journal:  Otol Neurotol       Date:  2019-01       Impact factor: 2.311

10.  Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss.

Authors:  Amal Bouzid; Ameni Chelly; Adel Tekari; Neha Singh; Kirtal Hansdah; Imen Achour; Ikhlas Ben Ayed; Fida Jbeli; Ilhem Charfeddine; Puppala Venkat Ramchander; Rifat Hamoudi; Saber Masmoudi
Journal:  Front Med (Lausanne)       Date:  2022-04-18
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