Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).

Journal of human genetics - 1 Jan 2001

Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M

Abstract excerpt

To clarify the pathomechanism in three patients with X-linked Charcot-Marie-Tooth disease (CMTX) and unique clinical features, we studied three connexin (Cx) 32 (GJB1) mutants with respect to cellular localization in cultured cells. Wild-type Cx32 and three Cx32 mutants (Va163Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biological Transport, Active
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Gap Junction beta-1 Protein

Share to Genetic Linkage

Share to PC12 Cells

Share to Subcellular Fractions

Share to X Chromosome

Source

Identifiers

PMID: 11393532
DOI: 10.1007/s100380170064

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).PMID 11393532Read ↗

Altered trafficking of mutant connexin32.Semantic proximity Read ↗

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.Semantic proximity Read ↗

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.Semantic proximity Read ↗

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Connexin32 and X-linked Charcot–Marie–Tooth DiseaseSemantic proximity Read ↗

Patient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Molecular genetics of X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth disease and connexin32.Semantic proximity Read ↗

X‐linked Charcot‐Marie‐Tooth diseaseSemantic proximity Read ↗

Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.