Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2

PLoS ONE

Volumn 7, Issue 12, 2012, Pages

  Xia, Chun hong ^a   Chang, Bo ^b   DeRosa, Adam M ^c   Cheng, Catherine ^a   White, Thomas W ^c   Gong, Xiaohua ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b JACKSON LABORATORY   (United States)

^c STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 43; CONNEXIN 46; CONNEXIN 50; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CATARACT; CAUSAL ATTRIBUTION; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EXPERIMENTAL MOUSE; GAP JUNCTION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENETIC CONSERVATION; GJA8 GENE; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; LENS; MICROPHTHALMIA; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; OOCYTE; PHENOTYPE; POINT MUTATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; WILD TYPE; XENOPUS;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATARACT; CELL SHAPE; CELLS, CULTURED; CONNEXINS; EPITHELIAL CELLS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; HUMANS; ION CHANNEL GATING; LENS, CRYSTALLINE; MEMBRANE POTENTIALS; MICE; MICE, TRANSGENIC; MICROPHTHALMOS; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; VACUOLES; XENOPUS LAEVIS;

MUS;

EID: 84871543072     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0052894     Document Type: Article

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