| http://purl.uniprot.org/citations/23591994 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23591994 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23591994 | http://www.w3.org/2000/01/rdf-schema#comment | "Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, underlining the relationship between telomere dysfunction and these diseases. By combining whole-genome linkage analysis and exome sequencing, we identified compound heterozygous RTEL1 (regulator of telomere elongation helicase 1) mutations in three patients with HHS from two unrelated families. RTEL1 is a DNA helicase that participates in DNA replication, DNA repair and telomere integrity. We show that, in addition to short telomeres, RTEL1-deficient cells from patients exhibit hallmarks of genome instability, including spontaneous DNA damage, anaphase bridges and telomeric aberrations. Collectively, these results identify RTEL1 as a novel HHS-causing gene and highlight its role as a genomic caretaker in humans."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddt178"xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddt178"xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Callebaut I."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Callebaut I."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Revy P."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Revy P."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Jabado N."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Jabado N."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Perderiset M."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Perderiset M."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Carpentier W."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Carpentier W."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Soulier J."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Soulier J."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Londono-Vallejo A."xsd:string |
| http://purl.uniprot.org/citations/23591994 | http://purl.uniprot.org/core/author | "Londono-Vallejo A."xsd:string |