Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. - Test2 - elhamkhani - TriplyDB

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

http://www.wikidata.org/entity/Q34023475

about

The genetics of dyskeratosis congenita A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia Danazol Treatment for Telomere Diseases Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.On the road with WRAP53β: guardian of Cajal bodies and genome integrity Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.Bone marrow failure and the telomeropathies.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder Telomere-regulating genes and the telomere interactome in familial cancers.Triallelic and epigenetic-like inheritance in human disorders of telomerase.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 Anemia of Central Origin.The shelterin complex and hematopoiesis.Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.Recent insights into inherited bone marrow failure syndromes.Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.The clinical impact of copy number variants in inherited bone marrow failure syndromes.Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes.Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.Structural Roles of Noncoding RNAs in the Heart of Enzymatic Complexes.Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.Pregnancy outcomes in inherited bone marrow failure syndromes.[Dyskeratosis congenita: short telomeres are not the rule].HuR regulates telomerase activity through TERC methylation.Heterozygous variants in bone marrow failure and myeloid neoplasms

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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

http://www.wikidata.org/entity/Q34023475

description

2011 nî lūn-bûn

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2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Differences in disease severit ...... erase and shelterin mutations.

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Amanda Walne

http://www.w3.org/2001/XMLSchema#string

Anna Ratcliffe

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Charlotte Baqai

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Inderjeet Dokal

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Judith Marsh

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Michael J Kirwan

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Richard Beswick

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Tom J Vulliamy

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Upal Hossain

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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

TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex

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

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

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 box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase.

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51655726

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21931702

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telomere length

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