Literature DB >> 9716127

Connexin mutations in deafness.

T W White, M R Deans, D P Kelsell, D L Paul.   

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Year:  1998        PMID： 9716127     DOI： 10.1038/29202

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  25 in total

Review 1.  Connexin mutations in skin disease and hearing loss.

Authors:  D P Kelsell; W L Di; M J Houseman
Journal:  Am J Hum Genet       Date:  2001-01-25       Impact factor: 11.025

2.  Connexin46 mutations in autosomal dominant congenital cataract.

Authors:  D Mackay; A Ionides; Z Kibar; G Rouleau; V Berry; A Moore; A Shiels; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

3.  Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.

Authors:  Atsunori Oshima; Kazutoshi Tani; Masoud M Toloue; Yoko Hiroaki; Amy Smock; Sayaka Inukai; Angela Cone; Bruce J Nicholson; Gina E Sosinsky; Yoshinori Fujiyoshi
Journal:  J Mol Biol       Date:  2010-11-20       Impact factor: 5.469

Review 4.  Development and maintenance of ear innervation and function: lessons from mutations in mouse and man.

Authors:  B Fritzsch; K Beisel
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

5.  Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.

Authors:  Kun Xia; Hong Ma; Hui Xiong; Qian Pan; Liangqun Huang; Danling Wang; Zhuohua Zhang
Journal:  Protein Cell       Date:  2010-11-09       Impact factor: 14.870

6.  DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Authors:  Hsiao-Yuan Tang; Ping Fang; Patricia A Ward; Eric Schmitt; Sandra Darilek; Spiros Manolidis; John S Oghalai; Benjamin B Roa; Raye Lynn Alford
Journal:  Am J Med Genet A       Date:  2006-11-15       Impact factor: 2.802

7.  Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

Authors:  A J Griffith; A A Chowdhry; K Kurima; L J Hood; B Keats; C I Berlin; R J Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  2000-07-19       Impact factor: 11.025

Review 8.  Gap junctions and cochlear homeostasis.

Authors:  H-B Zhao; T Kikuchi; A Ngezahayo; T W White
Journal:  J Membr Biol       Date:  2006-05-17       Impact factor: 1.843

Review 9.  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

10.  Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

Authors:  Gülistan Meşe; Eric Londin; Rickie Mui; Peter R Brink; Thomas W White
Journal:  Hum Genet       Date:  2004-07-07       Impact factor: 4.132
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