Literature DB >> 8733054

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

A Oterino1, F I Montón, V M Cabrera, F Pinto, A Gonzalez, N R Lavilla.   

Abstract

A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.

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Year:  1996        PMID： 8733054      PMCID： PMC1050613          DOI： 10.1136/jmg.33.5.413

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

1.  Genetic analysis using fingernail DNA.

Authors:  T Kaneshige; K Takagi; S Nakamura; T Hirasawa; M Sada; K Uchida
Journal:  Nucleic Acids Res       Date:  1992-10-25       Impact factor: 16.971

2.  Dinucleotide repeat polymorphism at the PGK1P1 locus.

Authors:  D L Browne; J Zonana; M Litt
Journal:  Nucleic Acids Res       Date:  1992-03-11       Impact factor: 16.971

3.  Dinucleotide repeat polymorphism at the PGK1 locus.

Authors:  D L Browne; J Zonana; M Litt
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

4.  Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci.

Authors:  J L Weber; A E Kwitek; P E May; M H Polymeropoulos; S Ledbetter
Journal:  Nucleic Acids Res       Date:  1990-07-11       Impact factor: 16.971

5.  Nonisotopic discontinuous phase single strand conformation polymorphism (DP-SSCP): genetic profiling of D-loop of human mitochondrial (mt) DNA.

Authors:  E P Yap; J O McGee
Journal:  Nucleic Acids Res       Date:  1993-08-25       Impact factor: 16.971

6.  Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

Authors:  N Fairweather; C Bell; S Cochrane; J Chelly; S Wang; M L Mostacciuolo; A P Monaco; N E Haites
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

7.  Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families.

Authors:  G Nicholson; J Nash
Journal:  Neurology       Date:  1993-12       Impact factor: 9.910

8.  Identification of a proline residue as a transduction element involved in voltage gating of gap junctions.

Authors:  T M Suchyna; L X Xu; F Gao; C R Fourtner; B J Nicholson
Journal:  Nature       Date:  1993-10-28       Impact factor: 49.962

9.  Connexin mutations in X-linked Charcot-Marie-Tooth disease.

Authors:  J Bergoffen; S S Scherer; S Wang; M O Scott; L J Bone; D L Paul; K Chen; M W Lensch; P F Chance; K H Fischbeck
Journal:  Science       Date:  1993-12-24       Impact factor: 47.728

10.  Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Authors:  V Ionasescu; C Searby; R Ionasescu
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
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  4 in total

Review 1.  Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Authors:  José Berciano; Antonio García; Elena Gallardo; Kristien Peeters; Ana L Pelayo-Negro; Silvia Álvarez-Paradelo; José Gazulla; Miriam Martínez-Tames; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2017-03-31       Impact factor: 4.849

Review 2.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

3.  Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Authors:  Soo Hyun Nam; Young Bin Hong; Young Se Hyun; Da Eun Nam; Geon Kwak; Sun Hee Hwang; Byung-Ok Choi; Ki Wha Chung
Journal:  Mol Cells       Date:  2016-03-30       Impact factor: 5.034

4.  Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

Authors:  Li-Xi Li; Shao-Yun Zhao; Zhi-Jun Liu; Wang Ni; Hong-Fu Li; Bao-Guo Xiao; Zhi-Ying Wu
Journal:  Oncotarget       Date:  2016-05-10
  4 in total

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