ArticlePloS one2012
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
- Altered Cell Clusters and Upregulated Aqp1 in Connexin 50 Knockout Lens Epithelium.Investigative ophthalmology & visual science · 2024Article
- Longitudinal study of microphthalmia in connexin 50 knockout mice using spectral-domain optical coherence tomography.Frontiers in ophthalmology · 2024Article
- The importance of polymorphisms in the genes encoding glutathione S-transferase isoenzymes in development of selected cancers and cardiovascular diseases.Molecular biology reports · 2023Review
- Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.Investigative ophthalmology & visual science · 2023Article
- Connexin Mutations and Hereditary Diseases.International journal of molecular sciences · 2022Review
- Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies.Frontiers in physiology · 2022Review
- Connexin Mutants Compromise the Lens Circulation and Cause Cataracts through Biomineralization.International journal of molecular sciences · 2020Review
- Connexin 50-R205G Mutation Perturbs Lens Epithelial Cell Proliferation and Differentiation.Investigative ophthalmology & visual science · 2020Article
- Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.Experimental eye research · 2019Article
- New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Human genetics · 2019Article
- The lens growth process.Progress in retinal and eye research · 2017Review
- Focus on lens connexins.BMC cell biology · 2017Review
- Article
- Connexin46fs380 causes progressive cataracts.Investigative ophthalmology & visual science · 2014Article
- Roles and regulation of lens epithelial cell connexins.FEBS letters · 2014Review
- Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.Scientific reports · 2014Article
- Functional effects of Cx50 mutations associated with congenital cataracts.American journal of physiology. Cell physiology · 2014Article
- Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.BioMed research international · 2014Article
- Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation.Investigative ophthalmology & visual science · 2013Article
- Role of gap junctions and hemichannels in parasitic infections.BioMed research international · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or α8 connexin) protein. Immunohistological data reveal that Cx50-R205G mutant proteins and endogenous wild-type Cx46 (or α3 connexin) proteins form diffuse tiny spots rather than typical punctate signals of normal gap junctions in the lens. The level of phosphorylated Cx46 proteins is decreased in Gja8(R205G/R205G) mutant lenses. Genetic analysis reveals that the Cx50-R205G mutation needs the presence of wild-type Cx46 to disrupt lens peripheral fibers and epithelial cells. Electrophysiological data in Xenopus oocytes reveal that Cx50-R205G mutant proteins block channel function of gap junctions composed of wild-type Cx50, but only affect the gating of wild-type Cx46 channels. Both genetic and electrophysiological results suggest that Cx50-R205G mutant proteins alone are unable to form functional channels. These findings imply that the Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia. The Gja8(R205G) mutation occurs at the same conserved residue as the human GJA8(R198W) mutation. This work provides molecular insights to understand the cataract and microphthalmia/microcornea phenotype caused by Gja8 mutations in mice and humans.
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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.