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

Pathogenetic role of the deafness-related M34T mutation of Cx26.

Human molecular genetics - 1 Sept 2006

Bicego Massimiliano, Beltramello Martina, Melchionda Salvatore, Carella Massimo, Piazza Valeria, Zelante Leopoldo, Bukauskas Feliksas F, Arslan Edoardo, Cama Elona, Pantano Sergio, Bruzzone Roberto, D'Andrea Paola, Mammano Fabio

Abstract excerpt

Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causing hereditary deafness remains controversial. By combining genetic, clinical, biochemical, electrophysiological and structural modeling studies, we have re-assessed the pathogenetic role of the M34T mutation. Genetic and...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Signaling
Share to Coloring Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

Share to Connexins

Share to Deafness

Share to HeLa Cells

Share to Ion Channel Gating

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 16849369
DOI: 10.1093/hmg/ddl184
PMCID: PMC2829448

Genes

GJB2

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

Pathogenetic role of the deafness-related M34T mutation of Cx26.PMID 16849369Read ↗

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.Semantic proximity Read ↗

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives.Semantic proximity Read ↗

Hearing loss: frequency and functional studies of the most common connexin26 alleles.Semantic proximity Read ↗

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.Semantic proximity Read ↗

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.Semantic proximity Read ↗

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.Semantic proximity Read ↗

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.Semantic proximity Read ↗

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.Semantic proximity Read ↗

Mechanism of the defect in gap-junctional communication by expression of a connexin 26 mutant associated with dominant deafness.Semantic proximity Read ↗

Computer simulations reveal pathogenicity and inheritance modes of hearing loss-causing germinal variantsSemantic proximity Read ↗

Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.Semantic proximity Read ↗

Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule.Semantic proximity Read ↗

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