Literature DB >> 27066400

Genetics: A New Frontier in Otology.

Mohan Kameswaran1, S Sudhamaheswari1, Kiran Natarajan1.   

Abstract

Molecular genetics is a rapidly expanding field with possibilities for novel diagnostic and treatment strategies for otological diseases. Gene therapy, if theory is proven practical, could eliminate disease at the molecular level, thus obviating the need for pharmacologic or surgical treatment. Recent years have seen great advances in our understanding of the molecular genetic basis of many otological disorders. Building on the success of the Human Genome Project, new technologies are in development to identify disease-causing mutations through genetic testing. A basic understanding of the genetic basis of Otological diseases is crucial to the practising Otologist and the time has come for genetic services to be incorporated into regular Otological clinics.

Entities:  

Keywords:  Gene therapy; Genetics; Hearing loss

Year:  2016        PMID: 27066400      PMCID: PMC4809830          DOI: 10.1007/s12070-016-0972-6

Source DB:  PubMed          Journal:  Indian J Otolaryngol Head Neck Surg        ISSN: 2231-3796


  34 in total

1.  The spectrum of hearing loss due to mitochondrial DNA defects.

Authors:  P F Chinnery; C Elliott; G R Green; A Rees; A Coulthard; D M Turnbull; T D Griffiths
Journal:  Brain       Date:  2000-01       Impact factor: 13.501

2.  Diagnosis of Alport syndrome without biopsy?

Authors:  Marie Claire Gubler
Journal:  Pediatr Nephrol       Date:  2006-12-02       Impact factor: 3.714

3.  Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Authors:  L A Everett; B Glaser; J C Beck; J R Idol; A Buchs; M Heyman; F Adawi; E Hazani; E Nassir; A D Baxevanis; V C Sheffield; E D Green
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330

4.  A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Authors:  Montserrat Rodríguez-Ballesteros; Raúl Reynoso; Margarita Olarte; Manuela Villamar; Constantino Morera; Rosamaria Santarelli; Edoardo Arslan; Carme Medá; Carlos Curet; Christiane Völter; Manuel Sainz-Quevedo; Pierangela Castorina; Umberto Ambrosetti; Stefano Berrettini; Klemens Frei; Socorro Tedín; Janine Smith; M Cruz Tapia; Laura Cavallé; Nancy Gelvez; Paola Primignani; Elena Gómez-Rosas; Mirta Martín; Miguel A Moreno-Pelayo; Martalucía Tamayo; José Moreno-Barral; Felipe Moreno; Ignacio del Castillo
Journal:  Hum Mutat       Date:  2008-06       Impact factor: 4.878

Review 5.  Disease-targeted sequencing: a cornerstone in the clinic.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2013-03-12       Impact factor: 53.242

6.  A novel animal model of acute cochlear mitochondrial dysfunction.

Authors:  Noriyuki Hoya; Yasuhide Okamoto; Kazusaku Kamiya; Masato Fujii; Tatsuo Matsunaga
Journal:  Neuroreport       Date:  2004-07-19       Impact factor: 1.837

Review 7.  Clinical aspects of hereditary hearing loss.

Authors:  Amit Kochhar; Michael S Hildebrand; Richard J H Smith
Journal:  Genet Med       Date:  2007-07       Impact factor: 8.822

8.  High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Authors:  P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

9.  Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Authors:  Zippora Brownstein; Lilach M Friedman; Hashem Shahin; Varda Oron-Karni; Nitzan Kol; Amal Abu Rayyan; Thomas Parzefall; Dorit Lev; Stavit Shalev; Moshe Frydman; Bella Davidov; Mordechai Shohat; Michele Rahile; Sari Lieberman; Ephrat Levy-Lahad; Ming K Lee; Noam Shomron; Mary-Claire King; Tom Walsh; Moien Kanaan; Karen B Avraham
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

Review 10.  GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Authors:  Aileen Kenneson; Kim Van Naarden Braun; Coleen Boyle
Journal:  Genet Med       Date:  2002 Jul-Aug       Impact factor: 8.822

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