| http://purl.uniprot.org/citations/29311329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29311329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29311329 | http://www.w3.org/2000/01/rdf-schema#comment | "CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in CHD7 (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible for CHD7 mutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined. Here, we report the characterization of a mouse model for CHD7 mutation-negative cases of CHARGE syndrome generated by insertional mutagenesis of Fam172a (family with sequence similarity 172, member A). We show that Fam172a plays a key role in the regulation of cotranscriptional alternative splicing, notably by interacting with Ago2 (Argonaute-2) and Chd7. Validation studies in a human cohort allow us to propose that dysregulation of cotranscriptional alternative splicing is a unifying pathogenic mechanism for both CHD7 mutation-positive and CHD7 mutation-negative cases. We also present evidence that such splicing defects can be corrected in vitro by acute rapamycin treatment."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1715378115"xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1715378115"xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Srivastava A."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Srivastava A."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Martin D.M."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Martin D.M."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Belanger C."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Belanger C."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Silversides D.W."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Silversides D.W."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Bernas G."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Bernas G."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Berube-Simard F.A."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Berube-Simard F.A."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Bielas S."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Bielas S."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Lalani S.R."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Lalani S.R."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Leduc E."xsd:string |
| http://purl.uniprot.org/citations/29311329 | http://purl.uniprot.org/core/author | "Leduc E."xsd:string |