AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Nature Genetics

Volumn 42, Issue 2, 2010, Pages 175-180

  Louie, Carrie M ^a   Caridi, Gianluca ^b   Lopes, Vanda S ^c,d   Brancati, Francesco ^e,f   Kispert, Andreas ^g   Lancaster, Madeline A ^a   Schlossman, Andrew M ^a   Otto, Edgar A ^h,i   Leitges, Michael ^j   Gröne, Hermann Josef ^k   Lopez, Irma ^l   Gudiseva, Harini V ^d   O'Toole, John F ^h,i   Vallespin, Elena ^m   Ayyagari, Radha ^d   Ayuso, Carmen ^m   Cremers, Frans P M ⁿ   Den Hollander, Anneke I ⁿ   Koenekoop, Robert K ^l   Dallapiccola, Bruno ^o   Ghiggeri, Gian Marco ^b   Hildebrandt, Friedhelm ^h,i   Valente, Enza Maria ^e,p   Williams, David S ^c,d   Gleeson, Joseph G ^a   more..

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b G GASLINI INSTITUTE   (Italy)

^c JULES STEIN EYE INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f UNIVERSITY OF CHIETI   (Italy)

^g HANNOVER MEDICAL SCHOOL   (Germany)

^h University of Michigan ^*

ⁱ UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF OSLO   (Norway)

^k GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^l MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^m CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

ⁿ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^o BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^p UNIVERSITY OF MESSINA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN; OPSIN; PROTEIN AHI1; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; BLINDNESS; CELL DEATH; CILIATED EPITHELIUM; DEVELOPMENTAL GENE; DISEASE ASSOCIATION; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; HISTOPATHOLOGY; HUMAN; NEPHRONOPHTHISIS; NONHUMAN; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RETINA DEGENERATION; RETINA ROD OUTER SEGMENT; RETINOPATHY; STATISTICAL SIGNIFICANCE;

AMINO ACID SUBSTITUTION; ANIMALS; CARRIER PROTEINS; CELL DEATH; CELL LINE; HUMANS; ITALY; MICE; OPSINS; PHOTORECEPTOR CELLS, VERTEBRATE; PROTO-ONCOGENE PROTEINS; RETINAL DEGENERATION;

MUS;

EID: 75749156683     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.519     Document Type: Article

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