CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

Human Molecular Genetics

Volumn 24, Issue 13, 2015, Pages 3775-3791

  Rachel, Rivka A ^a   Yamamoto, Erin A ^a   Dewanjee, Mrinal K ^a   May Simera, Helen L ^a   Sergeev, Yuri V ^a   Hackett, Alice N ^a   Pohida, Katherine ^a   Munasinghe, Jeeva ^b   Gotoh, Norimoto ^a   Wickstead, Bill ^c   Fariss, Robert N ^a   Dong, Lijin ^a   Li, Tiansen ^a   Swaroop, Anand ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CEP290 PROTEIN; UNCLASSIFIED DRUG; CEP290 PROTEIN, MOUSE; NUCLEAR PROTEIN;

ALLELE; ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOGENESIS; CELL MATURATION; CELL MEMBRANE; CENTROSOME; CILIATED EPITHELIUM CELL; CONTROLLED STUDY; EPENDYMA; EUKARYOTIC FLAGELLUM; GENETIC DISORDER; HYDROCEPHALUS; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; MICROTUBULE; MOUSE; NONHUMAN; PHENOTYPE; PHOTORECEPTOR; PHOTORECEPTOR CONNECTING CILIUM; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SYNDROMIC CILIOPATHY; TISSUE SPECIFICITY; VISUAL IMPAIRMENT; ANIMAL; ANTIBODY SPECIFICITY; C57BL MOUSE; DISEASE MODEL; FEMALE; GENETICS; HUMAN; KNOCKOUT MOUSE; MALE; METABOLISM;

MUS;

ANIMALS; CILIA; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; HYDROCEPHALUS; KIDNEY DISEASES, CYSTIC; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NUCLEAR PROTEINS; ORGAN SPECIFICITY;

EID: 84936773798     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv123     Document Type: Article

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