GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

American Journal of Human Genetics

Volumn 90, Issue 2, 2012, Pages 331-339

  Peachey, Neal S ^a,b,c   Ray, Thomas A ^d   Florijn, Ralph ^e   Rowe, Lucy B ^f   Sjoerdsma, Trijntje ^e   Contreras Alcantara, Susana ^g   Baba, Kenkichi ^g   Tosini, Gianluca ^g   Pozdeyev, Nikita ^h   Iuvone, P Michael ^h   Bojang, Pasano ^d   Pearring, Jillian N ^d   Simonsz, Huibert Jan ⁱ   Van Genderen, Maria ^j   Birch, David G ^k   Traboulsi, Elias I ^a,c   Dorfman, Allison ^l   Lopez, Irma ^l   Ren, Huanan ^l   Goldberg, Andrew F X ^m   Nishina, Patsy M ^f   Lachapelle, Pierre ^l   McCall, Maureen A ^d   Koenekoop, Robert K ^l   Bergen, Arthur A B ^e   Kamermans, Maarten ^e,n   Gregg, Ronald G ^d   more..

^a LERNER RESEARCH INSTITUTE   (United States)

^b LOUIS STOKES CLEVELAND VA MEDICAL CENTER   (United States)

^c CLEVELAND CLINIC LERNER COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF LOUISVILLE   (United States)

^e NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^f JACKSON LABORATORY   (United States)

^g MOREHOUSE SCHOOL OF MEDICINE   (United States)

^h EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

^j Bartiméus Institute for the Visually Impaired   (Netherlands)

^k RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^l MONTREAL CHILDREN S HOSPITAL   (Canada)

^m OAKLAND UNIVERSITY   (United States)

ⁿ ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE RECEPTOR 6;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL FUNCTION; COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS; CONGENITAL DISORDER; DENDRITIC CELL; DEPOLARIZATION; DNA EXTRACTION; ELECTRORETINOGRAM; G PROTEIN COUPLED RECEPTOR 179 GENE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; IMMUNOHISTOCHEMISTRY; NIGHT BLINDNESS; NONHUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETINA BIPOLAR GANGLION CELL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; TRANSPOSON; WILD TYPE; ZEBRA FISH;

DANIO RERIO; MUS;

EID: 84856843254     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.12.006     Document Type: Article

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