TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
about
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndromeInherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeThe genetics of dyskeratosis congenitaFinding the end: recruitment of telomerase to telomeresThe telomere syndromesUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed LungsTelomerase and idiopathic pulmonary fibrosisShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyTelomere shortening in human diseasesGenetics of SCIDTelomere length is associated with disease severity and declines with age in dyskeratosis congenitaFunction of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndromeThe hallmarks of agingShort Telomeres in Key Tissues Initiate Local and Systemic Aging in ZebrafishImpact of genomic damage and ageing on stem cell functionCell biology of disease: Telomeropathies: an emerging spectrum disorderTranscriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factorsApollo contributes to G overhang maintenance and protects leading-end telomeresAdvances in the understanding of dyskeratosis congenitaMolecular Architecture of Full-length TRF1 Favors Its Interaction with DNATelomere protection by TPP1/POT1 requires tethering to TIN2Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenitaInherited bone marrow failure syndromes in adolescents and young adults.Telomere biology and translational research.Syndromes of telomere shorteningAkt regulates TPP1 homodimerization and telomere protection.Telomeres: protecting chromosomes against genome instabilityTelomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.G-quadruplex nucleic acids and human diseaseBinding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.InTERTpreting telomerase structure and functionMutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndromeRevertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.Mitochondrial localization of telomeric protein TIN2 links telomere regulation to metabolic controlHuman RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.Telomeres in cancer and ageing.Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
P2860
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P2860
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
@en-gb
TINF2 mutations result in very ...... bone marrow failure syndromes
@nl
prefLabel
TINF2 mutations result in very ...... bone marrow failure syndromes
@ast
TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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TINF2 mutations result in very ...... bone marrow failure syndromes
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P2093
P2860
P921
P1433
P1476
TINF2 mutations result in very ...... bone marrow failure syndromes
@en
P2093
Amanda J Walne
Inderjeet Dokal
Michael Kirwan
Richard Beswick
Tom Vulliamy
P2860
P304
P356
10.1182/BLOOD-2008-05-153445
P407
P577
2008-11-01T00:00:00Z