Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms

Journal of Cell Science

Volumn 126, Issue 13, 2013, Pages 2857-2866

  Huang, Tao ^a   Shao, Qing ^a   MacDonald, Andrew ^a   Xin, Li ^a   Lorentz, Robert ^a   Bai, Donglin ^a   Laird, Dale W ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

Cx43; Gap junctions; GJA1; Oculodentodigital dysplasia

Indexed keywords

CONNEXIN 26; CONNEXIN 32; CONNEXIN 37; CONNEXIN 40; CONNEXIN 43;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL COMMUNICATION; CELL MEMBRANE; CELL TYPE; CONTROLLED STUDY; ELECTRIC CONDUCTIVITY; GAP JUNCTION; GENE MUTATION; HELA CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; NONHUMAN; OCULODENTODIGITAL SYNDROME; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RAT;

CX43; GAP JUNCTIONS; GJA1; OCULODENTODIGITAL DYSPLASIA;

AMINO ACID SUBSTITUTION; CELL LINE, TUMOR; CELL MEMBRANE; CODON, NONSENSE; CONNEXIN 43; CRANIOFACIAL ABNORMALITIES; CYTOSOL; EYE ABNORMALITIES; FLUORESCENT DYES; FOOT DEFORMITIES, CONGENITAL; GAP JUNCTIONS; GENES, RECESSIVE; HUMANS; MICROSCOPY, FLUORESCENCE; PROTEIN ISOFORMS; PROTEIN TRANSPORT; SYNDACTYLY; TOOTH ABNORMALITIES;

EID: 84880681669     PISSN: 00219533     EISSN: 14779137     Source Type: Journal    
DOI: 10.1242/jcs.123315     Document Type: Article

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