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Literature DB >> 8990008

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.

E Nelis¹, S Simokovic, V Timmerman, A Löfgren, H Backhovens, P De Jonghe, J J Martin, C Van Broeckhoven.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Connexins
connexin 32

Year: 1997 PMID： 8990008 DOI： 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M

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

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8 in total

1. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Authors: Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M Vance; Stephan Züchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Journal: Am J Hum Genet Date: 2010-10-08 Impact factor: 11.025

2. 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

3. 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

4. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.

Authors: M Bähr; F Andres; V Timmerman; M E Nelis; C Van Broeckhoven; J Dichgans
Journal: J Neurol Neurosurg Psychiatry Date: 1999-02 Impact factor: 10.154

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.

1. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

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

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

4. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.

5. A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

6. Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

7. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

8. A fully atomistic model of the Cx32 connexon.