TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita - Test2 - elhamkhani - TriplyDB

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

http://www.wikidata.org/entity/Q24655738

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Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes The genetics of dyskeratosis congenita Finding the end: recruitment of telomerase to telomeres TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo The telomere syndromes Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita The short and long telomere syndromes: paired paradigms for molecular medicine Telomerase and idiopathic pulmonary fibrosis Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy Telomere shortening in human diseases Telomere length is associated with disease severity and declines with age in dyskeratosis congenita Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome The hallmarks of aging Short Telomeres in Key Tissues Initiate Local and Systemic Aging in Zebrafish Cell biology of disease: Telomeropathies: an emerging spectrum disorder Two pathways recruit telomerase to Saccharomyces cerevisiae telomeres Transcriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factors Apollo contributes to G overhang maintenance and protects leading-end telomeres Advances in the understanding of dyskeratosis congenita The genomics of inherited bone marrow failure: from mechanism to the clinic.Molecular Architecture of Full-length TRF1 Favors Its Interaction with DNA Many disease-associated variants of hTERT retain high telomerase enzymatic activity Telomere protection by TPP1/POT1 requires tethering to TIN2 Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing Telomeres and disease.Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita Genomic characterization of the inherited bone marrow failure syndromes.Inherited bone marrow failure syndromes in adolescents and young adults.Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.Telomere biology and translational research.Syndromes of telomere shortening Akt regulates TPP1 homodimerization and telomere protection.Telomeres: protecting chromosomes against genome instability A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.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.

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P2860

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

http://www.wikidata.org/entity/Q24655738

description

2008 nî lūn-bûn

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2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2008 թվականի փետրվարին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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J.AJHG.2007.10.004

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American Journal of Human Genetics

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TINF2, a component of the shel ...... ated in dyskeratosis congenita

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Blanche P Alter

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Gabriela M Baerlocher

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Neelam Giri

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Peter M Lansdorp

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P2860

TIN2, a new regulator of telomere length in human cells

A telomerase component is defective in the human disease dyskeratosis congenita

PTOP interacts with POT1 and regulates its localization to telomeres

A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes

Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs

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