Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.

Dennis, Jennifer F; Kurosaka, Hiroshi; Iulianella, Angelo; Pace, Jennifer; Thomas, Nancy; Beckham, Sharon; Williams, Trevor; Trainor, Paul A

Dennis, Jennifer F; Kurosaka, Hiroshi; Iulianella, Angelo; Pace, Jennifer; Thomas, Nancy; Beckham, Sharon; Williams, Trevor; Trainor, Paul A.

Affiliation

Dennis JF; Stowers Institute for Medical Research, Kansas City, MO, USA.

PLoS Genet ; 8(10): e1002927, 2012.

Article in En | MEDLINE | ID: mdl-23055936

Subject(s)

Acyltransferases/genetics; Hedgehog Proteins/metabolism; Holoprosencephaly/genetics; Holoprosencephaly/metabolism; Jaw Abnormalities/genetics; Jaw Abnormalities/metabolism; Mutation; Neural Tube Defects/genetics; Neural Tube Defects/metabolism; Signal Transduction; Acyltransferases/metabolism; Animals; Apoptosis/genetics; Gene Expression; Holoprosencephaly/embryology; Jaw Abnormalities/embryology; Mice; Mice, Transgenic; Neural Crest/embryology; Neural Crest/metabolism; Neural Tube Defects/embryology; Patched Receptors; Patched-1 Receptor; Phenotype; Receptors, Cell Surface/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acyltransferases / Signal Transduction / Holoprosencephaly / Hedgehog Proteins / Jaw Abnormalities / Mutation / Neural Tube Defects Limits: Animals Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2012 Type: Article Affiliation country: United States

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