منابع مشابه
Wrong 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 کاملConnexin 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 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 کاملMutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts
OBJECTIVES 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 fo...
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: Journal of Cell Biology
سال: 2003
ISSN: 1540-8140,0021-9525
DOI: 10.1083/jcb1615iti2