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 Mutations and Hereditary Diseases.

International journal of molecular sciences - 12 Apr 2022

Qiu Yue, Zheng Jianglin, Chen Sen, Sun Yu

Abstract excerpt

Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot-Marie-Tooth disease (CMT1X). A large number of knockout and knock-in animal models have been used to study the pathology and pathogenesis of diseases of different organs. Because the structures of different...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Connexin 26
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gap Junctions

Share to Genes, Dominant

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35457072
DOI: 10.3390/ijms23084255
PMCID: PMC9027513

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Connexin Mutations and Hereditary Diseases.PMID 35457072Read ↗

Mechanisms linking connexin mutations to human diseases.Semantic proximity Read ↗

Connexinopathies: a structural and functional glimpse.Semantic proximity Read ↗

Cellular mechanisms of connexin-based inherited diseases.Semantic proximity Read ↗

Mutations in connexin genes and disease.Semantic proximity Read ↗

Connexin gene mutations in human genetic diseases.Semantic proximity Read ↗

Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.Semantic proximity Read ↗

SnapShot: Connexins and Disease.Semantic proximity Read ↗

Connexins and Disease.Semantic proximity Read ↗

The role of connexins in human disease.Semantic proximity Read ↗

Connexin-caused genetic diseases and corresponding mouse models.Semantic proximity Read ↗

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Semantic proximity Read ↗

Genetic diseases and gene knockouts reveal diverse connexin functions.Semantic proximity Read ↗

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