Literature DB >> 29502723

Otosclerosis: From Genetics to Molecular Biology.

Thomas A Babcock1, Xue Zhong Liu2.   

Abstract

Over the past several years, with the evolution of genetic and molecular research, several etiologic factors have been implicated in the pathogenesis of otosclerosis. Overall, current evidence suggests that otosclerosis is a complex disease with a variety of potential pathways contributing to the development of abnormal bone remodeling in the otic capsule. These pathways involved in the pathogenesis of otosclerosis are influenced by both genetic and environmental factors.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Gene; Genetics; Otic capsule; Otosclerosis; Pathophysiology

Mesh：

Substances：

Year:  2018        PMID： 29502723     DOI： 10.1016/j.otc.2017.11.002

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN： 0030-6665            Impact factor:   3.346


  7 in total

1.  The CaV1.2 L-type calcium channel regulates bone homeostasis in the middle and inner ear.

Authors:  Chike Cao; Aaron B Oswald; Brian A Fabella; Yinshi Ren; Ramona Rodriguiz; George Trainor; Matthew B Greenblatt; Matthew J Hilton; Geoffrey S Pitt
Journal:  Bone       Date:  2019-05-20       Impact factor: 4.398

2.  The risks of RELN polymorphisms and its expression in the development of otosclerosis.

Authors:  Saurabh Priyadarshi; Kirtal Hansdah; Neha Singh; Amal Bouzid; Chinmay Sundar Ray; Khirod Chandra Panda; Narayan Chandra Biswal; Ashim Desai; Jyotish Chandra Choudhury; Adel Tekari; Saber Masmoudi; Puppala Venkat Ramchander
Journal:  PLoS One       Date:  2022-06-03       Impact factor: 3.752

3.  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

4.  High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.

Authors:  L Stavber; T Hovnik; P Kotnik; L Lovrečić; J Kovač; T Tesovnik; S Bertok; K Dovč; M Debeljak; T Battelino; M Avbelj Stefanija
Journal:  Eur J Endocrinol       Date:  2020-03       Impact factor: 6.664

5.  Comparison of pure tone audiometry thresholds and transient evoked otoacoustic emissions (TEOAE) of patients with and without Covid-19 pneumonia.

Authors:  Erkan Yıldız
Journal:  Am J Otolaryngol       Date:  2022-01-29       Impact factor: 1.808

6.  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

7.  The Rise and Fall of Otosclerosis: A Population-based Study of Disease Incidence Spanning 70 Years.

Authors:  John P Marinelli; Douglas J Totten; Kiran K Chauhan; Christine M Lohse; Brandon R Grossardt; Jeffrey T Vrabec; Matthew L Carlson
Journal:  Otol Neurotol       Date:  2020-10       Impact factor: 2.619
  7 in total

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