| http://purl.uniprot.org/citations/14561710 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14561710 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14561710 | http://www.w3.org/2000/01/rdf-schema#comment | "Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy. PHP-Ib is thus distinct from PHP-Ia, which is caused by mutations in the GNAS exons encoding the G protein alpha subunit. However, an imprinted autosomal dominant form of PHP-Ib (AD-PHP-Ib) has been mapped to a region of chromosome 20q13.3 containing GNAS. Furthermore, loss of methylation at a differentially methylated region (DMR) of this locus, exon A/B, has been observed thus far in all investigated sporadic PHP-Ib cases and the affected members of multiple AD-PHP-Ib kindreds. We now report that affected members and obligate gene carriers of 12 unrelated AD-PHP-Ib kindreds and four apparently sporadic PHP-Ib patients, but not healthy controls, have a heterozygous approximately 3-kb microdeletion located approximately 220 kb centromeric of GNAS exon A/B. The deleted region, which is flanked by two direct repeats, includes three exons of STX16, the gene encoding syntaxin-16, for which no evidence of imprinting could be found. Affected individuals carrying the microdeletion show loss of exon A/B methylation but no epigenetic abnormalities at other GNAS DMRs. We therefore postulate that this microdeletion disrupts a putative cis-acting element required for methylation at exon A/B, and that this genetic defect underlies the renal PTH resistance in AD-PHP-Ib."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci19159"xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci19159"xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Sugimoto T."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Sugimoto T."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Indridason O.S."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Indridason O.S."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Bastepe M."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Bastepe M."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Crawford J.D."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Crawford J.D."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Froehlich L.F."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Froehlich L.F."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Hendy G.N."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Hendy G.N."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Josse R.G."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Josse R.G."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Jueppner H."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Jueppner H."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Koerkkoe J."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Koerkkoe J."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Koshiyama H."xsd:string |
| http://purl.uniprot.org/citations/14561710 | http://purl.uniprot.org/core/author | "Koshiyama H."xsd:string |