ArticleAmerican journal of physiology. Cell physiology2014
Functional effects of Cx50 mutations associated with congenital cataracts.
Article in American journal of physiology. Cell physiology, 2014. 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
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
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- Genetically engineered human embryonic kidney cells as a novel vehicle for dual patch clamp study of human gap junction channels.The Biochemical journal · 2024Article
- Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.European journal of human genetics : EJHG · 2024Article
- Mutation screening in autosomal dominant congenital cataract families from North India.Molecular genetics and genomics : MGG · 2023Article
- Role and Posttranslational Regulation of Cx46 Hemichannels and Gap Junction Channels in the Eye Lens.Frontiers in physiology · 2022Review
- Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr.BMC ophthalmology · 2020Article
- GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.Scientific reports · 2019Article
- Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.Experimental eye research · 2019Article
- Therapeutic strategies targeting connexins.Nature reviews. Drug discovery · 2018Review
- Induction of Immune Surveillance of the Dysmorphogenic Lens.Scientific reports · 2017Article
- Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.Iranian journal of basic medical sciences · 2017Article
- Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.PloS one · 2017Article
- Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.PloS one · 2017Article
- Heterozygous connexin 50 mutation affects metabolic syndrome attributes in spontaneously hypertensive rat.Lipids in health and disease · 2016Article
- Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Scientific reports · 2016Article
- Connexinopathies: a structural and functional glimpse.BMC cell biology · 2016Review
- A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2015Article
- The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.PloS one · 2015Article
- Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Human genomics · 2014Article
- A junction of transparency. Focus on "Functional effects of Cx50 mutations associated with congenital cataracts".American journal of physiology. Cell physiology · 2014Article
- Article
Corrections and comments
- Commented on by
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations in connexin50 (Cx50) cause dominant cataracts in both humans and mice. The exact mechanisms by which mutations cause these variable phenotypes are poorly understood. We have examined the functional properties of gap junctions made by three Cx50 mutations, V44E, D47N, and V79L, expressed in mammalian cell lines. V44E trafficked to the plasma membrane properly and formed gap junctional plaques. However, the mutant did not form functional gap junctions when expressed alone, or with wild-type (WT) Cx46 and Cx50, indicating that V44E is a dominant negative inhibitor of WT connexin function. In contrast, D47N subunits did not localize to junctional plaques or form functional homotypic gap junctions; however, mixed expression of D47N and WT subunits of either Cx50 or Cx46 resulted in functional intercellular channels, with high levels of coupling. Single-channel studies indicated that D47N formed heteromeric channels with WT Cx46 with unique properties. Unlike either V44E or D47N, V79L formed functional homotypic intercellular channels. However, the mutation caused an alteration in voltage gating and a dramatic reduction in the single-channel open probability, resulting in much lower levels of conductance in cells expressing V79L alone, or together with WT connexin subunits. Thus, each mutation produced distinct changes in the properties of junctional coupling. V44E failed to form intercellular channels in any configuration, D47N formed only heteromeric channels with WT connexins, and V79L formed homotypic and heteromeric channels with altered properties. These results suggest that unique interactions between mutant and wild-type lens connexins might underlie the development of various cataract phenotypes in humans.
Indexed as
Identifiers
What OpenQuestion holds
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.