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Telomere dysfunction in human diseases: the long and short of it!

Telomere dysfunction in human diseases: the long and short of it!

http://www.wikidata.org/entity/Q37268900

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Cell biology of disease: Telomeropathies: an emerging spectrum disorder Transcriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factors Telomeres: structures in need of unwinding.Telomere-regulating genes and the telomere interactome in familial cancers.Phenotypes in mTERT⁺/⁻ and mTERT⁻/⁻ mice are due to short telomeres, not telomere-independent functions of telomerase reverse transcriptase Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling.Shorter telomeres are associated with obesity and weight gain in the elderly Assessing cell and organ senescence biomarkers Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes.Medical genetics and epigenetics of telomerase.Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders.Telomerase Reverse Transcriptase Polymorphism rs2736100: A Balancing Act between Cancer and Non-Cancer Disease, a Meta-Analysis.

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P2860

Telomere dysfunction in human diseases: the long and short of it!

http://www.wikidata.org/entity/Q37268900

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 10 May 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Telomere dysfunction in human diseases: the long and short of it!

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Telomere dysfunction in human diseases: the long and short of it!

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Telomere dysfunction in human diseases: the long and short of it!

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Telomere dysfunction in human diseases: the long and short of it!

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Telomere dysfunction in human diseases: the long and short of it!

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Telomere dysfunction in human diseases: the long and short of it!

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International Journal of Clinical and Experimental Pathology

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Telomere dysfunction in human diseases: the long and short of it!

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Hinh Ly

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Kathryn A Carroll

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P2860

Cri du Chat syndrome

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

Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat 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

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

Mutations in the SBDS gene in acquired aplastic anemia

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528-543

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scholarly article

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6

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2

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2009-05-10T00:00:00Z

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19636400

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2713453

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