Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
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Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndromeTINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaSex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cellsMutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenitaTelomeres in aging and disease: lessons from zebrafishThe short and long telomere syndromes: paired paradigms for molecular medicineIt all comes together at the ends: telomerase structure, function, and biogenesisEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseGenetics of SCIDTwo pathways recruit telomerase to Saccharomyces cerevisiae telomeresAdvances in the understanding of dyskeratosis congenitaMany disease-associated variants of hTERT retain high telomerase enzymatic activitySyndromes of telomere shorteningTelomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.Ribosomopathies: human disorders of ribosome dysfunction.The role of nuclear bodies in gene expression and disease.InTERTpreting telomerase structure and functionNucleolar stress with and without p53.Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndromeThe emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderGenetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.Targeting Human Telomerase Reverse Transcriptase by a Simple siRNA Expression Cassette in HepG2 Cells.Dyskeratosis congenita as a disorder of telomere maintenance.Essential roles for Pot1b in HSC self-renewal and survival.Human telomere disease due to disruption of the CCAAT box of the TERC promoter.Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.Triallelic and epigenetic-like inheritance in human disorders of telomerase.Alterations in the ribosomal machinery in cancer and hematologic disorders.Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.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-inhibitionTelomere and adaptive immunityCold-inducible RNA-binding protein CIRP/hnRNP A18 regulates telomerase activity in a temperature-dependent manner.Telomere maintenance and human bone marrow failureCharacterization of primitive hematopoietic cells from patients with dyskeratosis congenitaGenomes of Strongylocentrotus franciscanus and Lytechinus variegatus: are there any genomic explanations for the two order of magnitude difference in the lifespan of sea urchins?Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.Engineered telomere degradation models dyskeratosis congenitaA homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
P2860
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P2860
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@ast
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@en
type
label
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@ast
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@en
prefLabel
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@ast
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@en
P2093
P2860
P1433
P1476
Telomerase reverse-transcripta ...... Hoyeraal-Hreidarsson syndrome.
@en
P2093
Amanda Walne
Anna Marrone
Hannah Tamary
Inderjeet Dokal
Michael Kirwan
Richard Beswick
Tom Vulliamy
Yuka Masunari
P2860
P304
P356
10.1182/BLOOD-2006-12-062851
P407
P577
2007-09-04T00:00:00Z