TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. - Wikidata - wikimedia - TriplyDB

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

http://www.wikidata.org/entity/Q37041915

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The genetics of dyskeratosis congenita The telomere syndromes It all comes together at the ends: telomerase structure, function, and biogenesis Telomerase and idiopathic pulmonary fibrosis Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy Telomere length is associated with disease severity and declines with age in dyskeratosis congenita Advances in the understanding of dyskeratosis congenita Many disease-associated variants of hTERT retain high telomerase enzymatic activity Inherited bone marrow failure syndromes in adolescents and young adults.Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.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.Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.The challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failure Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.Architecture of human telomerase RNA.Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes Bone marrow failure and the telomeropathies.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations Telomere length in inherited bone marrow failure syndromes Clinical management of aplastic anemia.Clinical utility gene card for: dyskeratosis congenita.Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling.Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment.TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres.The relationship between DNA methylation and telomere length in dyskeratosis congenita.Reversibility of Defective Hematopoiesis Caused by Telomere Shortening in Telomerase Knockout Mice.Telomerase deficiency delays renal recovery in mice after ischemia-reperfusion injury by impairing autophagy Clinical utility gene card for: Dyskeratosis congenita - update 2015.Predicting 5-fluorouracil toxicity in colorectal cancer patients from peripheral blood cell telomere length: a multivariate analysis.A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres.Shortened leukocyte telomere length in type 2 diabetes mellitus: genetic polymorphisms in mitochondrial uncoupling proteins and telomeric pathways.A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.The role of telomeres in the ageing of human skin.

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TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

http://www.wikidata.org/entity/Q37041915

description

article científic

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article scientifique

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artigo científico

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bilimsel makale

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scientific article published on 17 October 2008

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vedecký článok

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vetenskaplig artikel

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vědecký článek

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name

TERC and TERT gene mutations i ...... telomere length measurements.

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TERC and TERT gene mutations i ...... telomere length measurements.

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type

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TERC and TERT gene mutations i ...... telomere length measurements.

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TERC and TERT gene mutations i ...... telomere length measurements.

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TERC and TERT gene mutations i ...... telomere length measurements.

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TERC and TERT gene mutations i ...... telomere length measurements.

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TERC and TERT gene mutations i ...... f telomere length measurements

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Adrianna Vlachos

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Akiko Shimamura

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Deborah Chirnomas

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Elena Pumbo

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Frederick Goldman

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Hong-Yan Du

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Jeffrey M Lipton

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Monica Bessler

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Philip J Mason

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Ping An

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P2860

Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation

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

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats

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

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

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

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

Protein composition of catalytically active human telomerase from immortal cells

Telomeres shorten during ageing of human fibroblasts

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10.1182/BLOOD-2008-07-166421

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David B. Wilson

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telomere length

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