Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

Human Molecular Genetics

Volumn 21, Issue 8, 2012, Pages 1808-1823

  Ashe, Alyson ^a,d   Butterfield, Natalie C ^b,e   Town, Liam ^b   Courtney, Andrew D ^b   Cooper, Ashley N ^b   Ferguson, Charles ^b   Barry, Rachael ^b   Olsson, Fredrik ^b   Liem, Karel F ^c   Parton, Robert G ^b   Wainwright, Brandon J ^b   Anderson, Kathryn V ^c   Whitelaw, Emma ^a   Wicking, Carol ^b  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ETHYLNITROSOUREA; IFT A PROTEIN; PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CILIARY MOTILITY; CLEFT PALATE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DOWNSTREAM PROCESSING; EMBRYO; FIBROBLAST; GENE MUTATION; LIMB; LIMB DEFECT; MISSENSE MUTATION; MOUSE; NONHUMAN; NULL ALLELE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROMOTER REGION; RIB MALFORMATION; SIGNAL TRANSDUCTION; SKELETAL CILIOPATHY; SKELETON MALFORMATION; SOMITE;

ABNORMALITIES, MULTIPLE; ANIMALS; CHROMOSOME MAPPING; CILIA; CRANIOFACIAL ABNORMALITIES; EMBRYO, MAMMALIAN; FIBROBLAST GROWTH FACTORS; FORELIMB; HEDGEHOG PROTEINS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MUTAGENESIS; MUTATION, MISSENSE; PHENOTYPE; POLYDACTYLY; PROTEINS; RIBS; SIGNAL TRANSDUCTION;

ERINACEIDAE;

EID: 84859260928     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr613     Document Type: Article

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