A novel murine allele of intraflagellar transport protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

Human Molecular Genetics

Volumn 20, Issue 19, 2011, Pages 3725-3737

  Friedland Little, Joshua M ^a   Hoffmann, Andrew D ^a   Ocbina, Polloneal Jymmiel R ^b   Peterson, Mike A ^a   Bosman, Joshua D ^a   Chen, Yan ^c   Cheng, Steven Y ^c   Anderson, Kathryn V ^b   Moskowitz, Ivan P ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; INTRAFLAGELLAR TRANSPORT PROTEIN 172; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATRIOVENTRICULAR CANAL; AXONEME; CELL STRUCTURE; CLINICAL FEATURE; CONTROLLED STUDY; DOSE RESPONSE; EMBRYO; EMBRYO CELL; EUKARYOTIC FLAGELLUM; FIBROBLAST; GENE MUTATION; HYDROCEPHALUS; IN VITRO STUDY; IN VIVO STUDY; MOUSE; NONHUMAN; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYNDROME; SYNDROME VATER; VACTERL HYDROCEPHALUS SYNDROME; WILD TYPE;

ALLELES; ANAL CANAL; ANIMALS; CILIA; DISEASE MODELS, ANIMAL; ESOPHAGUS; HEART DEFECTS, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; HYDROCEPHALUS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MUTAGENESIS; MUTATION; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; SPINE; TRACHEA; TUMOR SUPPRESSOR PROTEINS;

ERINACEIDAE; MURINAE; VERTEBRATA;

EID: 80052709712     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr241     Document Type: Article

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