×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
Biomarker
disease
GENOMICS_ENGLAND
A practical approach to diagnosing adult onset leukodystrophies.
24357685
2014
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
27564080
2016
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
Biomarker
disease
GENOMICS_ENGLAND
In this review, the authors focus on the origin and classification of CMTX , the central nervous system manifestations of CMTX1 , the possible mechanism by which GJB1 mutations cause CMT1X, and the emerging therapeutic strategies for CMTX .
26385972
2016
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
8266101
1993
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
Biomarker
disease
CTD_human
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
10220155
1999
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
9452099
1998
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy.
12325071
2002
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12402337
2002
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
10923043
2000
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Two point mutations affecting different domains of Cx32 were identified in two CMTX patients.
11140841
2000
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
14627639
2003
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
10938190
2000
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11835375
2002
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11438991
2001
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Ten families with X-linked dominant CMT neuropathy (CMTX1 ) were screened for point mutations of the connexin32 (Cx32 , GJB1 ) gene.
8004109
1994
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
7477983
1995
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
The identification of new CMTX -causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.
8698335
1996
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
12707076
2003
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience.
10586284
1999
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
11437164
2001
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
12477701
2003
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region.
8737658
1996
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
1.000
GeneticVariation
disease
UNIPROT
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
9099841
1997