In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Human Molecular Genetics

Volumn 15, Issue 11, 2006, Pages 1847-1857

  Chang, Bo ^a   Khanna, Hemant ^b   Hawes, Norman ^a   Jimeno, David ^c,d   He, Shirley ^b   Lillo, Concepcion ^c,d   Parapuram, Sunil K ^b   Cheng, Hong ^b   Scott, Alison ^b   Hurd, Ron E ^a   Sayer, John A ^b   Otto, Edgar A ^b   Attanasio, Massimo ^b   O'Toole, John F ^b   Jin, Genglin ^e   Shou, Chengchao ^e   Hildebrandt, Friedhelm ^b   Williams, David S ^c,d   Heckenlively, John R ^b   Swaroop, Anand ^b  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e PEKING UNIVERSITY CANCER HOSPITAL AND INSTITUTE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CELL PROTEIN; ISOPROTEIN; MUTANT PROTEIN; PROTEIN CEP290; RETINITIS PIGMENTOSA GTPASE REGULATOR INTERACTING PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL DIVISION; CENTROSOME; CONTROLLED STUDY; EUKARYOTIC FLAGELLUM; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; IMMUNOGOLD LABELING; MICROTUBULE; MOUSE; MOUSE MUTANT; MUCOCILIARY TRANSPORT; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOPHYSIOLOGY; PHOTORECEPTOR; PHOTOTRANSDUCTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RETINA DEGENERATION; RETINITIS PIGMENTOSA;

ANIMALS; ANTIGENS, NEOPLASM; BASE SEQUENCE; CARRIER PROTEINS; CENTROSOME; DISEASE MODELS, ANIMAL; EYE PROTEINS; GENE DELETION; HUMANS; MICE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PROTEIN BINDING; RETINAL DEGENERATION;

EID: 33744757686     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl107     Document Type: Article

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