Literature DB >> 15235031

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.

J E A Common, W-L Di, D Davies, D P Kelsell.   

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Year:  2004        PMID： 15235031      PMCID： PMC1735824          DOI： 10.1136/jmg.2003.017632

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

Authors:  Pio D'Adamo; Veronica Ileana Guerci; Antonella Fabretto; Flavio Faletra; Domenico Leonardo Grasso; Luca Ronfani; Marcella Montico; Marcello Morgutti; PierPaolo Guastalla; Paolo Gasparini
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

2.  Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Authors:  Junxian Zhang; Steven S Scherer; Sabrina W Yum
Journal:  Mol Cell Neurosci       Date:  2010-10-30       Impact factor: 4.314

Review 3.  Connexins and pannexins in the integumentary system: the skin and appendages.

Authors:  Chrysovalantou Faniku; Catherine S Wright; Patricia E Martin
Journal:  Cell Mol Life Sci       Date:  2015-06-20       Impact factor: 9.261

4.  The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.

Authors:  H-H M Dahl; S E Tobin; Z Poulakis; F W Rickards; X Xu; L Gillam; J Williams; K Saunders; B Cone-Wesson; M Wake
Journal:  J Med Genet       Date:  2006-07-13       Impact factor: 6.318

5.  EKV mutant connexin 31 associated cell death is mediated by ER stress.

Authors:  Daniel Tattersall; Claire A Scott; Colin Gray; Daniel Zicha; David P Kelsell
Journal:  Hum Mol Genet       Date:  2009-09-14       Impact factor: 6.150

6.  Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Authors:  Sabrina W Yum; Junxian Zhang; Steven S Scherer
Journal:  Neurobiol Dis       Date:  2010-01-21       Impact factor: 5.996

7.  Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Authors:  Ram Shankar Mani; Aparna Ganapathy; Rajeev Jalvi; C R Srikumari Srisailapathy; Vikas Malhotra; Shelly Chadha; Arun Agarwal; Arabandi Ramesh; Raghunath Rao Rangasayee; Anuranjan Anand
Journal:  Eur J Hum Genet       Date:  2008-10-22       Impact factor: 4.246

8.  A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro.

Authors:  Y K Stella Man; Caroline Trolove; Daniel Tattersall; Anna C Thomas; Annie Papakonstantinopoulou; Drashnika Patel; Claire Scott; Jiehan Chong; Daniel J Jagger; Edel A O'Toole; Harshad Navsaria; Michael A Curtis; David P Kelsell
Journal:  J Membr Biol       Date:  2007-06-21       Impact factor: 1.843

9.  Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

Authors:  Amanda Hall; Marcus Pembrey; Mark Lutman; Colin Steer; Maria Bitner-Glindzicz
Journal:  BMJ Open       Date:  2012-07-31       Impact factor: 2.692

10.  Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).

Authors:  Nikolay A Barashkov; Vera G Pshennikova; Olga L Posukh; Fedor M Teryutin; Aisen V Solovyev; Leonid A Klarov; Georgii P Romanov; Nyurgun N Gotovtsev; Andrey A Kozhevnikov; Elena V Kirillina; Oksana G Sidorova; Lena M Vasilyevа; Elvira E Fedotova; Igor V Morozov; Alexander A Bondar; Natalya A Solovyevа; Sardana K Kononova; Adyum M Rafailov; Nikolay N Sazonov; Anatoliy N Alekseev; Mikhail I Tomsky; Lilya U Dzhemileva; Elza K Khusnutdinova; Sardana A Fedorova
Journal:  PLoS One       Date:  2016-05-25       Impact factor: 3.240
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