Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

PLoS Genetics

Volumn 8, Issue 10, 2012, Pages

  Dennis, Jennifer F ^a,b   Kurosaka, Hiroshi ^a   Iulianella, Angelo ^a,c   Pace, Jennifer ^a   Thomas, Nancy ^a   Beckham, Sharon ^a   Williams, Trevor ^d   Trainor, Paul A ^a,b  

^a STOWERS INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^c DALHOUSIE UNIVERSITY   (Canada)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; BONE MORPHOGENETIC PROTEIN 4; FIBROBLAST GROWTH FACTOR 8; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX10;

ACRANIA; AGNATHIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; BONE MALFORMATION; BRAIN SIZE; CELL MIGRATION; CELL SURVIVAL; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; DISEASE SEVERITY; DOWN REGULATION; EMBRYO; ENCHONDRAL OSSIFICATION; GENE; HEDGEHOG ACYLTRANSFERASE GENE; HOLOPROSENCEPHALY; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; MOUSE; NEURAL CREST CELL; NEUROPATHOLOGY; NONHUMAN; PALMITOYLATION; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN SECRETION; SIGNAL TRANSDUCTION; TOOTH MALFORMATION; TRANSGENIC MOUSE;

ACYLTRANSFERASES; ANIMALS; APOPTOSIS; GENE EXPRESSION; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; JAW ABNORMALITIES; MICE; MICE, TRANSGENIC; MUTATION; NEURAL CREST; NEURAL TUBE DEFECTS; PHENOTYPE; RECEPTORS, CELL SURFACE; SIGNAL TRANSDUCTION;

CEPHALOCHORDATA; ERINACEIDAE;

EID: 84868129160     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002927     Document Type: Article

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