Literature DB >> 12432904

[Defective gap junctions: variability of the phenotype exemplified by connexin 26 mutations].

J Krutmann1, J O Funk, B Korge.   

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Year:  2002        PMID： 12432904     DOI： 10.1007/s00105-002-0431-z

Source DB:  PubMed          Journal:  Hautarzt        ISSN： 0017-8470            Impact factor:   0.751


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  15 in total

1.  Mutations in GJB6 cause hidrotic ectodermal dysplasia.

Authors:  J Lamartine; G Munhoz Essenfelder; Z Kibar; I Lanneluc; E Callouet; D Laoudj; G Lemaître; C Hand; S J Hayflick; J Zonana; S Antonarakis; U Radhakrishna; D P Kelsell; A L Christianson; A Pitaval; V Der Kaloustian; C Fraser; C Blanchet-Bardon; G A Rouleau; G Waksman
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

2.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

3.  Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

Authors:  M M Carrasquillo; J Zlotogora; S Barges; A Chakravarti
Journal:  Hum Mol Genet       Date:  1997-11       Impact factor: 6.150

4.  Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

Authors:  C Ressot; D Gomès; A Dautigny; D Pham-Dinh; R Bruzzone
Journal:  J Neurosci       Date:  1998-06-01       Impact factor: 6.167

5.  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

6.  A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Authors:  A Shiels; D Mackay; A Ionides; V Berry; A Moore; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

7.  Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

Authors:  F Macari; M Landau; P Cousin; B Mevorah; S Brenner; R Panizzon; D F Schorderet; D Hohl; M Huber
Journal:  Am J Hum Genet       Date:  2000-10-03       Impact factor: 11.025

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.  Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Authors:  G Richard; L E Smith; R A Bailey; P Itin; D Hohl; E H Epstein; J J DiGiovanna; J G Compton; S J Bale
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330

10.  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Authors:  L Zelante; P Gasparini; X Estivill; S Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; E Mansfield; K Delgrosso; E Rappaport; S Surrey; P Fortina
Journal:  Hum Mol Genet       Date:  1997-09       Impact factor: 6.150
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