| http://purl.uniprot.org/citations/23143598 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23143598 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23143598 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. IGSF1 is a membrane glycoprotein that is highly expressed in the anterior pituitary gland, and the identified mutations impair its trafficking to the cell surface in heterologous cells. Igsf1-deficient male mice show diminished pituitary and serum thyroid-stimulating hormone (TSH) concentrations, reduced pituitary thyrotropin-releasing hormone (TRH) receptor expression, decreased triiodothyronine concentrations and increased body mass. Collectively, our observations delineate a new X-linked disorder in which loss-of-function mutations in IGSF1 cause central hypothyroidism, likely secondary to an associated impairment in pituitary TRH signaling."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2453"xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2453"xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Zhu H."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Zhu H."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "White J.K."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "White J.K."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Kriek M."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Kriek M."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Hennekam R.C."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Hennekam R.C."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Pereira A.M."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Pereira A.M."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Chatterjee K."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Chatterjee K."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "den Dunnen J.T."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "den Dunnen J.T."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Kant S.G."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Kant S.G."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Oostdijk W."xsd:string |
| http://purl.uniprot.org/citations/23143598 | http://purl.uniprot.org/core/author | "Oostdijk W."xsd:string |