ArticleIranian journal of basic medical sciences2017
Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.
Article in Iranian journal of basic medical sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.Molecular genetics and genomics : MGG · 2022Article
- Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant inFrontiers in pediatrics · 2022Article
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.Scientific reports · 2019Article
- New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Human genetics · 2019Article
- Homeodomain Protein Transforming Growth Factor Beta-Induced Factor 2 Like, X-Linked Function in Colon Adenocarcinoma CellsAsian Pacific journal of cancer prevention : APJCP · 2017Article
- Identification of a Missense Mutation inJournal of current ophthalmologyArticle
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesChildhood cataract is a genetically heterogeneous eye disorder that results in visual impairment. The aim of this study was to identify the genetic mutations of connexin 50 gene among Iranian families suffered from autosomal dominant congenital cataracts (ADCC). MATERIALS AND
methodsFamilies, having at least two members with bilateral familial congenital cataract, were selected for the study. Probands were evaluated by detailed ophthalmologist's examination, and the pedigree analysis was performed. PCR amplifications were performed corresponding to coding region and intron-exon boundaries of
resultsThree different genetic alterations, including c.130G>A (p.V44M), c.301G>T (p.R101L) and c.134G>T (p.W45L) in
conclusionOur results suggest that mutations of lens connexin genes such as
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