Literature DB >> 11179004

Connexin mutations in skin disease and hearing loss.

D P Kelsell1, W L Di, M J Houseman.   

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Year:  2001        PMID： 11179004      PMCID： PMC1274469          DOI： 10.1086/318803

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  71 in total

1.  Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

Authors:  G Richard; J P Lin; L Smith; Y M Whyte; P Itin; U Wollina; E Epstein; D Hohl; J M Giroux; L Charnas; S J Bale; J J DiGiovanna
Journal:  J Invest Dermatol       Date:  1997-11       Impact factor: 8.551

2.  Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Authors:  K B Sevior; A Hatamochi; I A Stewart; Y Bykhovskaya; D R Allen-Powell; N Fischel-Ghodsian; M A Maw
Journal:  Am J Med Genet       Date:  1998-01-13

3.  Connexin mutations and hearing loss.

Authors:  D A Scott; M L Kraft; E M Stone; V C Sheffield; R J Smith
Journal:  Nature       Date:  1998-01-01       Impact factor: 49.962

4.  Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development.

Authors:  R Choudhry; J D Pitts; M B Hodgins
Journal:  Dev Dyn       Date:  1997-12       Impact factor: 3.780

5.  Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

Authors:  F Denoyelle; S Marlin; D Weil; L Moatti; P Chauvin; E N Garabédian; C Petit
Journal:  Lancet       Date:  1999-04-17       Impact factor: 79.321

Review 6.  Lens biology: development and human cataractogenesis.

Authors:  P J Francis; V Berry; A T Moore; S Bhattacharya
Journal:  Trends Genet       Date:  1999-05       Impact factor: 11.639

7.  Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Authors:  F Denoyelle; D Weil; M A Maw; S A Wilcox; N J Lench; D R Allen-Powell; A H Osborn; H H Dahl; A Middleton; M J Houseman; C Dodé; S Marlin; A Boulila-ElGaïed; M Grati; H Ayadi; S BenArab; P Bitoun; G Lina-Granade; J Godet; M Mustapha; J Loiselet; E El-Zir; A Aubois; A Joannard; J Levilliers; E N Garabédian; R F Mueller; R J Gardner; C Petit
Journal:  Hum Mol Genet       Date:  1997-11       Impact factor: 6.150

8.  Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

Authors:  J H Xia; C Y Liu; B S Tang; Q Pan; L Huang; H P Dai; B R Zhang; W Xie; D X Hu; D Zheng; X L Shi; D A Wang; K Xia; K P Yu; X D Liao; Y Feng; Y F Yang; J Y Xiao; D H Xie; J Z Huang
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330

9.  Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Authors:  X Estivill; P Fortina; S Surrey; R Rabionet; S Melchionda; L D'Agruma; E Mansfield; E Rappaport; N Govea; M Milà; L Zelante; P Gasparini
Journal:  Lancet       Date:  1998-02-07       Impact factor: 79.321

10.  A quantitative analysis of connexin-specific permeability differences of gap junctions expressed in HeLa transfectants and Xenopus oocytes.

Authors:  F Cao; R Eckert; C Elfgang; J M Nitsche; S A Snyder; D F H-ulser; K Willecke; B J Nicholson
Journal:  J Cell Sci       Date:  1998-01       Impact factor: 5.285
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  22 in total

Review 1.  Introduction: a tribute to cell-to-cell channels.

Authors:  Parmender P Mehta
Journal:  J Membr Biol       Date:  2007-09-19       Impact factor: 1.843

Review 2.  Gap junctions.

Authors:  Morten Schak Nielsen; Lene Nygaard Axelsen; Paul L Sorgen; Vandana Verma; Mario Delmar; Niels-Henrik Holstein-Rathlou
Journal:  Compr Physiol       Date:  2012-07       Impact factor: 9.090

Review 3.  Posttranslational modifications in connexins and pannexins.

Authors:  Scott R Johnstone; Marie Billaud; Alexander W Lohman; Evan P Taddeo; Brant E Isakson
Journal:  J Membr Biol       Date:  2012-06-28       Impact factor: 1.843

4.  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

5.  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 6.  Biological role of connexin intercellular channels and hemichannels.

Authors:  Rekha Kar; Nidhi Batra; Manuel A Riquelme; Jean X Jiang
Journal:  Arch Biochem Biophys       Date:  2012-03-17       Impact factor: 4.013

7.  Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Authors:  Gabriele Richard; Fatima Rouan; Colin E Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Wang Jabs; Sherri J Bale; John J DiGiovanna; Jouni Uitto; Laura Russell
Journal:  Am J Hum Genet       Date:  2002-03-22       Impact factor: 11.025

8.  Redefining the structure of the mouse connexin43 gene: selective promoter usage and alternative splicing mechanisms yield transcripts with different translational efficiencies.

Authors:  Ingrid Pfeifer; Curtis Anderson; Rudolf Werner; Elisa Oltra
Journal:  Nucleic Acids Res       Date:  2004-08-24       Impact factor: 16.971

9.  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

10.  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
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