Literature DB >> 16406841

From deafness genes to hearing mechanisms: harmony and counterpoint.

Christine Petit1.   

Abstract

The study of hereditary hearing impairments provides a unique opportunity to deal with two objectives simultaneously: (i) identification of the causative genes and the underlying pathogenic process in each form of deafness; and (ii) elucidation of the molecular and cellular mechanisms of hearing. This review highlights the breakthroughs achieved during the past 12 years, with respect to their medical impacts and advances in basic scientific knowledge. To date, this research relies extensively on mouse models to study human forms of deafness. But, can mouse models sustain genetic approaches to study the physiology and pathophysiology of the auditory system and to develop and test drugs?

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Year:  2006        PMID: 16406841     DOI: 10.1016/j.molmed.2005.12.006

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  27 in total

Review 1.  Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.

Authors:  Noah A Levit; Gulistan Mese; Mena-George R Basaly; Thomas W White
Journal:  Biochim Biophys Acta       Date:  2011-09-10

2.  Hair bundles are specialized for ATP delivery via creatine kinase.

Authors:  Jung-Bum Shin; Femke Streijger; Andy Beynon; Theo Peters; Laura Gadzala; Debra McMillen; Cory Bystrom; Catharina E E M Van der Zee; Theo Wallimann; Peter G Gillespie
Journal:  Neuron       Date:  2007-02-01       Impact factor: 17.173

Review 3.  Neurosensory mechanotransduction.

Authors:  Martin Chalfie
Journal:  Nat Rev Mol Cell Biol       Date:  2009-01       Impact factor: 94.444

4.  Three-dimensional current flow in a large-scale model of the cochlea and the mechanism of amplification of sound.

Authors:  Pavel Mistrík; Chris Mullaley; Fabio Mammano; Jonathan Ashmore
Journal:  J R Soc Interface       Date:  2009-03-06       Impact factor: 4.118

5.  The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.

Authors:  Leona H Gagnon; Chantal M Longo-Guess; Mark Berryman; Jung-Bum Shin; Katherine W Saylor; Heping Yu; Peter G Gillespie; Kenneth R Johnson
Journal:  J Neurosci       Date:  2006-10-04       Impact factor: 6.167

Review 6.  Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Authors:  Emilie Hoang Dinh; Shoeb Ahmad; Qing Chang; Wenxue Tang; Benjamin Stong; Xi Lin
Journal:  Brain Res       Date:  2009-02-20       Impact factor: 3.252

Review 7.  Hair cell afferent synapses.

Authors:  Elisabeth Glowatzki; Lisa Grant; Paul Fuchs
Journal:  Curr Opin Neurobiol       Date:  2008-10-08       Impact factor: 6.627

8.  The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants.

Authors:  Jared M Churko; Stephanie Langlois; Xinyue Pan; Qing Shao; Dale W Laird
Journal:  Biochem J       Date:  2010-08-01       Impact factor: 3.857

9.  Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Authors:  Osama Alsmadi; Brian F Meyer; Fowzan Alkuraya; Salma Wakil; Fadi Alkayal; Haya Al-Saud; Khushnooda Ramzan; MoeenAldeen Al-Sayed
Journal:  Eur J Hum Genet       Date:  2008-08-13       Impact factor: 4.246

10.  Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Authors:  Julie M Schultz; Shaheen N Khan; Zubair M Ahmed; Saima Riazuddin; Ali M Waryah; Dhananjay Chhatre; Matthew F Starost; Barbara Ploplis; Stephanie Buckley; David Velásquez; Madhulika Kabra; Kwanghyuk Lee; Muhammad J Hassan; Ghazanfar Ali; Muhammad Ansar; Manju Ghosh; Edward R Wilcox; Wasim Ahmad; Glenn Merlino; Suzanne M Leal; Sheikh Riazuddin; Thomas B Friedman; Robert J Morell
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025

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