Literature DB >> 21470211

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

I Schrauwen, N J D Weegerink, E Fransen, C Claes, R J E Pennings, C W R J Cremers, P L M Huygen, H P M Kunst, G Van Camp.   

Abstract

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Year:  2011        PMID： 21470211     DOI： 10.1111/j.1399-0004.2010.01576.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  No evidence for disturbed COL1A1 and A2 expression in otosclerosis.

Authors:  Péter Csomor; Balázs Liktor; Bálint Liktor; István Sziklai; Tamás Karosi
Journal:  Eur Arch Otorhinolaryngol       Date:  2011-12-01       Impact factor: 2.503

2.  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 3.  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

4.  Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.

Authors:  Sandra Iossa; Giovanna Morello; Teresa Esposito; Virginia Corvino; Pasquale Giannini; Raffaella Salvato; Michele Cavaliere; Maria Panetti; Giuseppe Panetti; Bruno Piantedosi; Fernando Gianfrancesco; Elio Marciano; Annamaria Franzè
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2014-01-30

5.  Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Authors:  Megan Ealy; Nicole C Meyer; Johnny Cruz Corchado; Isabelle Schrauwen; Andreas Bress; Markus Pfister; Guy Van Camp; Richard J H Smith
Journal:  Otol Neurotol       Date:  2014-03       Impact factor: 2.311

6.  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

7.  A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

Authors:  Susan G Stanton; Terry-Lynn Young; Nelly Abdelfatah; Ahmed A Mostafa; Curtis R French; Lance P Doucette; Cindy Penney; Matthew B Lucas; Anne Griffin; Valerie Booth; Christopher Rowley; Jessica E Besaw; Lisbeth Tranebjærg; Nanna Dahl Rendtorff; Kathy A Hodgkinson; Leichelle A Little; Sumit Agrawal; Lorne Parnes; Tony Batten; Susan Moore; Pingzhao Hu; Justin A Pater; Jim Houston; Dante Galutira; Tammy Benteau; Courtney MacDonald; Danielle French; Darren D O'Rielly
Journal:  Hum Genet       Date:  2021-10-11       Impact factor: 5.881

8.  Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.

Authors:  Joanna L Ziff; Michael Crompton; Harry R F Powell; Jeremy A Lavy; Christopher P Aldren; Karen P Steel; Shakeel R Saeed; Sally J Dawson
Journal:  Hum Mol Genet       Date:  2016-04-07       Impact factor: 6.150

9.  Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

Authors:  Ryan J Carlson; Alicia Quesnel; Dawson Wells; Zippora Brownstein; Dror Gilony; Suleyman Gulsuner; Kathleen A Leppig; Karen B Avraham; Mary-Claire King; Tom Walsh; Jay Rubinstein
Journal:  Otol Neurotol       Date:  2021-09-01       Impact factor: 2.619

10.  The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population.

Authors:  S Iossa; V Corvino; P Giannini; R Salvato; M Cavaliere; M Panetti; G Panetti; B Piantedosi; E Marciano; A Franzè
Journal:  Acta Otorhinolaryngol Ital       Date:  2013-10       Impact factor: 2.124
  10 in total

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