The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1290-1297

  Hansen, Lars ^a   Comyn, Sophie ^b   Mang, Yuan ^a   Lind Thomsen, Allan ^a   Myhre, Layne ^b   Jean, Francesca ^b   Eiberg, Hans ^a   Tommerup, Niels ^a   Rosenberg, Thomas ^c,d   Pilgrim, David ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d Mental Health Services CPH   (Denmark)

Author keywords

Congenital cataract; Epithelial lens cell; Non muscle myosin; UNC45B; Zebrafish steif mutant

Indexed keywords

ACACA PROTEIN; HEAT SHOCK PROTEIN 90; MYOSIN; PEPTIDES AND PROTEINS; UNC 45B PROTEIN; UNCLASSIFIED DRUG; ACACA PROTEIN, HUMAN; ACETYL COENZYME A CARBOXYLASE; CHAPERONE; UNC45B PROTEIN, HUMAN; UNC45B PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHROMOSOME 17; CHROMOSOME 2; CONTROLLED STUDY; EMBRYO; EYE DEVELOPMENT; FEMALE; GENE EXPRESSION; GENETIC LINKAGE; HUMAN; LENS; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; ADOLESCENT; ADULT; ANIMAL; ANIMAL EMBRYO; CHILD; CYTOLOGY; EMBRYOLOGY; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; IMMUNOHISTOCHEMISTRY; METABOLISM; MIDDLE AGED; PHENOTYPE; SKELETAL MUSCLE; YOUNG ADULT; ZEBRA FISH;

ACETYL-COA CARBOXYLASE; ADOLESCENT; ADULT; ANIMALS; CATARACT; CHILD; CHROMOSOMES, HUMAN, PAIR 17; EMBRYO, NONMAMMALIAN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HOMOZYGOTE; HSP90 HEAT-SHOCK PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; LENS, CRYSTALLINE; MIDDLE AGED; MOLECULAR CHAPERONES; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOSINS; PHENOTYPE; YOUNG ADULT; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84932100280     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.21     Document Type: Article

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