The effect of TERC haploinsufficiency on the inheritance of telomere length. - Wikidata - wikimedia - TriplyDB

The effect of TERC haploinsufficiency on the inheritance of telomere length.

The effect of TERC haploinsufficiency on the inheritance of telomere length.

http://www.wikidata.org/entity/Q34144616

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The genetics of dyskeratosis congenita The telomere syndromes Guardian of the Human Genome: Host Defense Mechanisms against LINE-1 Retrotransposition Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs Variation at the TERT locus and predisposition for cancer Cell biology of disease: Telomeropathies: an emerging spectrum disorder Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema Low abundance of telomerase in yeast: implications for telomerase haploinsufficiency.Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance.Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.Syndromes of telomere shortening A common variant in the telomerase RNA component is associated with short telomere length.A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.Genome-wide association study of relative telomere length.Telomere length is inherited with resetting of the telomere set-point.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.Therapeutic opportunities: telomere maintenance in inducible pluripotent stem cells.The telomerase reverse transcriptase subunit from the dimorphic fungus Ustilago maydis.Bone marrow failure and the telomeropathies.Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.Telomere-regulating genes and the telomere interactome in familial cancers.DNA damage responses and oxidative stress in dyskeratosis congenita.Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.Human diseases of telomerase dysfunction: insights into tissue aging.Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita Shortened leukocyte telomere length in type 2 diabetes mellitus: genetic polymorphisms in mitochondrial uncoupling proteins and telomeric pathways.Telomeres and age-related disease: how telomere biology informs clinical paradigms Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.Lung alveolar integrity is compromised by telomere shortening in telomerase-null mice.Leukocyte telomere dynamics: longitudinal findings among young adults in the Bogalusa Heart Study.The genetics and clinical manifestations of telomere biology disorders.Short telomeres are sufficient to cause the degenerative defects associated with aging Human telomerase expression regulation.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.Attenuated expression of SECIS binding protein 2 causes loss of telomeric reserve without affecting telomerase.No attenuation of the ATM-dependent DNA damage response in murine telomerase-deficient cells.

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P2860

The effect of TERC haploinsufficiency on the inheritance of telomere length.

http://www.wikidata.org/entity/Q34144616

description

2005 nî lūn-bûn

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2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

The effect of TERC haploinsufficiency on the inheritance of telomere length.

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

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type

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

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The effect of TERC haploinsufficiency on the inheritance of telomere length.

@en

The effect of TERC haploinsufficiency on the inheritance of telomere length.

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Proceedings of the National Academy of Sciences of the United States of America

P1476

The effect of TERC haploinsufficiency on the inheritance of telomere length.

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Fred Goldman

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Hong-Yan Du

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Lea Harrington

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Monica Bessler

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Philip J Mason

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Rachida Bouarich

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Sara Freeman

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Shashikant Kulkarni

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P2860

A telomerase component is defective in the human disease dyskeratosis congenita

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Human telomeres contain at least three types of G-rich repeat distributed non-randomly

Specific association of human telomerase activity with immortal cells and cancer

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

The RNA component of human telomerase

Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

Telomerase catalytic subunit homologs from fission yeast and human

Telomere length predicts replicative capacity of human fibroblasts

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47

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102

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Arturo Londoño-Vallejo

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7484701

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telomere length

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