Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24597936

about

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation 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 Genetic interstitial lung disease The telomere syndromes The telomerase database 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 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review.Telomeres in aging and disease: lessons from zebrafish Telomere and Telomerase Therapeutics in Cancer The short and long telomere syndromes: paired paradigms for molecular medicine It all comes together at the ends: telomerase structure, function, and biogenesis Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Telomere shortening in human diseases Small RNAs with big implications: new insights into H/ACA snoRNA function and their role in human disease Structure of a functional ribonucleoprotein pseudouridine synthase bound to a substrate RNA Functional and Structural Impact of Target Uridine Substitutions on the H/ACA Ribonucleoprotein Particle Pseudouridine Synthase,Structure of H/ACA RNP Protein Nhp2p Reveals Cis/Trans Isomerization of a Conserved Proline at the RNA and Nop10 Binding Interface Telomerase Regulation from Beginning to the End Cell biology of disease: Telomeropathies: an emerging spectrum disorder Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema Advances in the understanding of dyskeratosis congenita Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component The genomics of inherited bone marrow failure: from mechanism to the clinic.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.Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.Telomere biology and translational research.Syndromes of telomere shortening A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.Short telomeres compromise β-cell signaling and survival.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.The role of nuclear bodies in gene expression and disease.Telomeres and immunological diseases of aging

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P2860

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

http://www.wikidata.org/entity/Q24597936

description

2007 nî lūn-bûn

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2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2007 թվականի հուլիսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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type

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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prefLabel

Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Human Molecular Genetics

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Genetic heterogeneity in autos ...... erase-associated protein NOP10

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Amanda J Walne

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Anna Marrone

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Fat-Hia Al-Qurashi

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Inderjeet Dokal

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Mahmoud Aljurf

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Michael Kirwan

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Richard Beswick

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Tom Vulliamy

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Yuka Masunari

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P2860

Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs

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

Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells

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

Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10

Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

Crystal structure determination and site-directed mutagenesis of the Pyrococcus abyssi aCBF5-aNOP10 complex reveal crucial roles of the C-terminal domains of both proteins in H/ACA sRNP activity.

Multiple sequence alignment with hierarchical clustering

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1619-29

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scholarly article

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1273630

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10.1093/HMG/DDM111

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13

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16

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17507419

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2882227

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