| http://purl.uniprot.org/citations/25205116 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25205116 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25205116 | http://www.w3.org/2000/01/rdf-schema#comment | "Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telomerase localization to telomeres requires an interaction with a region on the surface of the telomere-binding protein TPP1 known as the TEL patch. Here, we identify a family with aplastic anemia and other related hematopoietic disorders in which a 1-amino-acid deletion in the TEL patch of TPP1 (ΔK170) segregates with disease. All family members carrying this mutation, but not those with wild-type TPP1, have short telomeres. When introduced into 293T cells, TPP1 with the ΔK170 mutation is able to localize to telomeres but fails to recruit telomerase to telomeres, supporting a causal relationship between this TPP1 mutation and bone marrow disorders. ACD/TPP1 is thus a newly identified telomere-related gene in which mutations cause aplastic anemia and related BMF disorders."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2014-08-596445"xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2014-08-596445"xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Chen Y."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Chen Y."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Guo Y."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Guo Y."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Xu X."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Xu X."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Christodoulou J."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Christodoulou J."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Tian L."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Tian L."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Al-Odaib A."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Al-Odaib A."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Barbaro P.M."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Barbaro P.M."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Bryan T.M."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Bryan T.M."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Hakonarson H."xsd:string |
| http://purl.uniprot.org/citations/25205116 | http://purl.uniprot.org/core/author | "Hakonarson H."xsd:string |