An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract

Experimental Eye Research

Volumn 110, Issue , 2013, Pages 136-141

  Senthil Kumar, G ^a   Kyle, John W ^b,d   Minogue, Peter J ^b   Dinesh Kumar, K ^a   Vasantha, K ^c   Berthoud, Viviana M ^b   Beyer, Eric C ^b   Santhiya, S T ^a  

^a UNIVERSITY OF MADRAS   (India)

^b UNIVERSITY OF CHICAGO   (United States)

^c Government Eye Hospital   (India)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

AQP0; Aquaporin0; Cataract; Lens; MIP; PDI

Indexed keywords

AQUAPORIN; ASPARTIC ACID; GENOMIC DNA; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CASE REPORT; CATARACT EXTRACTION; CELL MEMBRANE; CHILD; CONGENITAL CATARACT; ENDOPLASMIC RETICULUM; GENE IDENTIFICATION; HELA CELL; HUMAN; MALE; MUTATIONAL ANALYSIS; NYSTAGMUS; OOCYTE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SCHOOL CHILD; VISUAL ACUITY; WILD TYPE;

ANIMALS; AQUAPORINS; ASIAN CONTINENTAL ANCESTRY GROUP; BODY WATER; CATARACT; CATARACT EXTRACTION; CELL MEMBRANE; CELL MOVEMENT; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENE EXPRESSION REGULATION; GENES, DOMINANT; HUMANS; INFANT; LENS IMPLANTATION, INTRAOCULAR; LENS, CRYSTALLINE; MALE; MICROSCOPY, FLUORESCENCE; MUTATION, MISSENSE; OOCYTES; PEDIGREE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; PROTEIN TRANSPORT; TRANSFECTION; XENOPUS LAEVIS;

EID: 84876698306     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2012.10.010     Document Type: Article

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