ReviewBiochimica et biophysica acta. Biomembranes2018
Human diseases associated with connexin mutations.
Review in Biochimica et biophysica acta. Biomembranes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
96 citing papers in PubMed, 152 citations in OpenAlex.
- Connexin 31.9 is expressed in human pancreatic endocrine beta cells, as well as in exocrine ductal epithelial and vascular endothelial cells.Bioscience reports · 2026Article
- Article
- A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- In situ structure of the human gap junction.Science advances · 2026Article
- Article
- Viral-Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.Molecular genetics & genomic medicine · 2025Article
- A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.Genome medicine · 2025Article
- Model-based evaluation of connexin hemichannel permeability.Computational and structural biotechnology journal · 2025Article
- The genetic and molecular basis of a connexin-linked skin disease.The Biochemical journal · 2024Review
- A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function.The Journal of general physiology · 2024Article
- An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities.The Journal of general physiology · 2024Article
- GJA4 expressed on cancer associated fibroblasts (CAFs)-A 'promoter' of the mesenchymal phenotype.Translational oncology · 2024Article
- Integrative analyses identified gap junction beta-2 as a prognostic biomarker and therapeutic target for breast cancer.Cancer innovation · 2024Article
- Genetically engineered human embryonic kidney cells as a novel vehicle for dual patch clamp study of human gap junction channels.The Biochemical journal · 2024Article
- An Ultrasensitive Genetically Encoded Voltage Indicator Uncovers the Electrical Activity of Non-Excitable Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Purification, Reconstitution, and Functional Analysis of Connexin Hemichannels.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Mechanism of connexin channel inhibition by mefloquine and 2-aminoethoxydiphenyl borate.PloS one · 2024Article
- Mechanisms of Intracellular Communication in Cancer and Pathogen Spreading.Results and problems in cell differentiation · 2024Review
- Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.Frontiers in physiology · 2024Review
36 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Gap junctions and hemichannels comprised of connexins impact many cellular processes. Significant advances in our understanding of the functional role of these channels have been made by the identification of a host of genetic diseases caused by connexin mutations. Prominent features of connexin disorders are the inability of other connexins expressed in the same cell type to compensate for the mutated one, and the ability of connexin mutants to dominantly influence the activity of other wild-type connexins. Functional studies have begun to identify some of the underlying mechanisms whereby connexin channel mutation contributes to the disease state. Detailed mechanistic understanding of these functional differences will help to facilitate new pathophysiology driven therapies for the diverse array of connexin genetic disorders. This article is part of a Special Issue entitled: Gap Junction Proteins edited by Jean Claude Herve.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.