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

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.

American journal of medical genetics - 1 Nov 2001

Abe S, Kelley P M, Kimberling W J, Usami S I

Abstract excerpt

We report a high prevalence of GJB2 heterozygous mutations in patients bearing the 1555A-->G mitochondrial mutation, and describe a family in which potential interaction between GJB2 and a mitochondrial gene appears to be the cause of hearing impairment. Patients who are heterozygotes for the GJB...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hearing Loss, Sensorineural

Share to Heterozygote

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 11746015

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11746015-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.PMID 11746015Read ↗

[GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation].Semantic proximity Read ↗

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?Semantic proximity Read ↗

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.Semantic proximity Read ↗

Connexin26 deafness in several interconnected families.Semantic proximity Read ↗

Sensorineural hearing loss and the 1555G mitochondrial DNA mutation.Semantic proximity Read ↗

[Sequence analysis of the connexin 26 genes from a deafness family with A1555G mutation in Huaiyin].Semantic proximity Read ↗

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.Semantic proximity Read ↗

Immunohistochemical and ultrastructural abnormalities in muscle from a patient with sensorineural hearing loss related to a 1555 A-to-G mitochondrial mutation.Semantic proximity Read ↗

Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.Semantic proximity Read ↗

Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation.Semantic proximity Read ↗

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