منابع مشابه
Connexin Mutants and Cataracts
The lens is a multicellular, but avascular tissue that must stay transparent to allow normal transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins can cause cataracts, opacities that disrupt these processes. The normal survival of the lens is facilitated by an extensive network of gap junctions formed predominantly of connexin46 and connexin50. Mutations o...
متن کاملWrong connexin signals cataracts
In This Issue In This Issue Conjunctions of junctions ike tight junctions in vertebrates, the ladder-like septate junctions found in most invertebrates act as barriers to epithelial permeability. A pair of papers L The ␣ subunit of a pump (the Na ϩ /K ϩ ATPase) is found at the barrier-forming septate junctions in flies. esides allowing ions to flow between adjacent cells, gap junctions selectiv...
متن کاملMutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts
Objective(s): Childhood 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 Methods: Families, having at least two members with bilateral familial congenital cataract, were selected ...
متن کاملClosing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
Cells within the vast majority of human tissues communicate directly through clustered arrays of intercellular channels called gap junctions. Gene ablation studies in mouse models have revealed that these intercellular channels are necessary for a variety of organ functions and that some of these genes are essential for survival. Molecular genetics has uncovered that germ line mutations in near...
متن کاملIdentification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts
Autosomal dominant congenital cataracts (ADCC) are clinically and genetically heterogeneous diseases. The present study recruited two Chinese families with bilateral nuclear cataract or zonular pulverulent phenotype. Direct sequencing of candidate genes identified two novel missense mutations of Cx50, Cx50P59A (c.175C > G) and Cx50R76H (c.227G > A), both co-segregated well with all affected ind...
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ژورنال
عنوان ژورنال: Frontiers in Pharmacology
سال: 2013
ISSN: 1663-9812
DOI: 10.3389/fphar.2013.00043