Literature DB >> 14708631

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.

Chester W Brown, Moise L Levy, Catherine M Flaitz, Barbara S Reid, Spiros Manolidis, Adelaide A Hebert, Matthew M Bender, Heidi A Heilstedt, Katie S Plunkett, Ping Fang, Benjamin B Roa, Pil Chung, Hsiao-Yuan Tang, Gabriele Richard, Raye L Alford.   

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Year:  2003        PMID： 14708631     DOI： 10.1046/j.1523-1747.2003.12550_4.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  12 in total

1.  Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.

Authors:  Hsiao-Yuan Tang; Monica J Basehore; Gregory L Blakey; Sandra Darilek; John S Oghalai; Benjamin B Roa; Ping Fang; Raye Lynn Alford
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

2.  A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.

Authors:  Ken Arita; Masashi Akiyama; Tomoyasu Aizawa; Yoshitaka Umetsu; Ikuo Segawa; Maki Goto; Daisuke Sawamura; Makoto Demura; Keiichi Kawano; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2006-08       Impact factor: 4.307

Review 3.  Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Authors:  Niloofar Bazazzadegan; Abraham M Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Nicole C Meyer; Guy Van Camp; Nele Hilgert; Seyedeh Sedigheh Abedini; Farkhondeh Habibi; Ahmad Daneshi; Carla Nishimura; Matthew R Avenarius; Mohammad Farhadi; Richard J H Smith; Hossein Najmabadi
Journal:  Am J Med Genet A       Date:  2011-04-11       Impact factor: 2.802

4.  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

Review 5.  Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.

Authors:  Iris Schrijver
Journal:  J Mol Diagn       Date:  2004-11       Impact factor: 5.568

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.  Gap-junction channels dysfunction in deafness and hearing loss.

Authors:  Agustín D Martínez; Rodrigo Acuña; Vania Figueroa; Jaime Maripillan; Bruce Nicholson
Journal:  Antioxid Redox Signal       Date:  2009-02       Impact factor: 8.401

8.  The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.

Authors:  Gulistan Mese; Caterina Sellitto; Leping Li; Hong-Zhan Wang; Virginijus Valiunas; Gabriele Richard; Peter R Brink; Thomas W White
Journal:  Mol Biol Cell       Date:  2011-10-26       Impact factor: 4.138

9.  GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Authors:  Sandra Iossa; Elio Marciano; Annamaria Franzé
Journal:  Curr Genomics       Date:  2011-11       Impact factor: 2.236

Review 10.  DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Authors:  Francisco J Del Castillo; Ignacio Del Castillo
Journal:  Front Mol Neurosci       Date:  2017-12-22       Impact factor: 5.639
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