Literature DB >> 1319395

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1.

I A Corcos1, R G Lafrenière, C R Begy, R Loch-Caruso, H F Willard, T W Glover.   

Abstract

Connexins are the peptide subunits of gap junctions that interconnect cells to allow the direct, intercellular transfer of small molecules. Recently, the human connexin32 gene (locus designation GJB1) has been regionally mapped by three other laboratories to Xp11-q13, Xcen-q22, and Xp11-q22. The smallest region of overlap from these studies is Xcen-q13. By using a series of somatic cell hybrid mapping panels and a rat connexin32 cDNA probe, we have localized the human GJB1 locus to a much smaller region in proximal Xq13.1, in interval 8, as described by Lafrenière et al. (8).

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Year:  1992        PMID: 1319395     DOI: 10.1016/0888-7543(92)90278-z

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  5 in total

Review 1.  Gap junctions in inherited human disease.

Authors:  Georg Zoidl; Rolf Dermietzel
Journal:  Pflugers Arch       Date:  2010-02-07       Impact factor: 3.657

2.  Physical mapping of connexin 32 (GJB1) and 43 (GJA1) genes to bovine chromosomes Xq22 and 9q15/16 by fluorescence in situ hybridization.

Authors:  B Castiglioni; L Ferretti; M L Tenchini; A Mezzelani; T Simonic; S Duga
Journal:  Mamm Genome       Date:  1996-08       Impact factor: 2.957

3.  Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

Authors:  L Villard; S Briault; A M Lossi; C Paringaux; J Belougne; L Colleaux; D R Pincus; E Woollatt; J Lespinasse; A Munnich; C Moraine; M Fontès; J Gecz
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

4.  X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Authors:  S Cochrane; J Bergoffen; N D Fairweather; E Müller; M L Mostacciuolo; A P Monaco; K H Fischbeck; N E Haites
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

5.  Molecular mechanisms of OLIG2 transcription factor in brain cancer.

Authors:  Igor F Tsigelny; Valentina L Kouznetsova; Nathan Lian; Santosh Kesari
Journal:  Oncotarget       Date:  2016-08-16
  5 in total

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