Literature DB >> 8829637

Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.

C C Tan1, P J Ainsworth, A F Hahn, P M MacLeod.   

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Year:  1996        PMID： 8829637     DOI： 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  8 in total

1.  Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.

Authors:  Cinzia Ambrosi; Daniela Boassa; Jennifer Pranskevich; Amy Smock; Atsunori Oshima; Ji Xu; Bruce J Nicholson; Gina E Sosinsky
Journal:  Biophys J       Date:  2010-05-19       Impact factor: 4.033

2.  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

3.  Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

Authors:  C Castro; J M Gómez-Hernandez; K Silander; L C Barrio
Journal:  J Neurosci       Date:  1999-05-15       Impact factor: 6.167

Review 4.  Animal models for inherited peripheral neuropathies.

Authors:  R Martini
Journal:  J Anat       Date:  1997-10       Impact factor: 2.610

5.  Localization of a voltage gate in connexin46 gap junction hemichannels.

Authors:  A Pfahnl; G Dahl
Journal:  Biophys J       Date:  1998-11       Impact factor: 4.033

6.  A fully atomistic model of the Cx32 connexon.

Authors:  Sergio Pantano; Francesco Zonta; Fabio Mammano
Journal:  PLoS One       Date:  2008-07-02       Impact factor: 3.240

7.  Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26.

Authors:  Francesco Zonta; Damiano Buratto; Chiara Cassini; Mario Bortolozzi; Fabio Mammano
Journal:  Front Physiol       Date:  2014-03-04       Impact factor: 4.566

8.  GJB1 Mutation-A Disease Spectrum: Report of Case Series.

Authors:  Jingwen Niu; Yi Dai; Mingsheng Liu; Yi Li; Qingyun Ding; Yuzhou Guan; Liying Cui; Liri Jin
Journal:  Front Neurol       Date:  2020-01-15       Impact factor: 4.003
  8 in total

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