A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract.

scientific article published on 18 April 2012

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID3339038
P698PubMed publication ID22550389

P2093author name stringSi Quan Zhu
Kai Jie Wang
P2860cites workUnique and redundant connexin contributions to lens developmentQ28510702
The genetics of childhood cataractQ33959625
Mutation analysis of 12 genes in Chinese families with congenital cataractsQ35175335
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing lossQ35434741
Plasma membrane channels formed by connexins: their regulation and functions.Q35541877
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese familyQ35736331
Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannelsQ36445008
Genetic origins of cataractQ36734552
Connexins in lens development and cataractogenesisQ36853203
Gap junction channel structure in the early 21st century: facts and fantasiesQ36975165
Congenital cataracts and their molecular geneticsQ37012783
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.Q37479018
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.Q37811014
The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains.Q41366226
Novel beta-crystallin gene mutations in Chinese families with nuclear cataractsQ43562595
A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 miceQ43903234
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataractQ44638252
Causes of childhood blindness: results from west Africa, south India and ChileQ72815754
P921main subjectcongenital disorderQ727096
P304page(s)968-973
P577publication date2012-04-18
P1433published inMolecular VisionQ6895981
P1476titleA novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract
P478volume18

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cites work (P2860)
Q34217327A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family
Q38615181Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract
Q36763879Connexin mutants and cataracts
Q36928431Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts
Q39370800Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis

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