Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
about
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10The genetics of 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 congenitaTINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaHigh incidence of rapid telomere loss in telomerase-deficient Caenorhabditis elegansIt all comes together at the ends: telomerase structure, function, and biogenesisShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyTelomere shortening in human diseasesAdvances in the understanding of dyskeratosis congenitaThe genomics of inherited bone marrow failure: from mechanism to the clinic.Inhibitory effects of antisense phosphorothioate oligodeoxynucleotides on pancreatic cancer cell Bxpc-3 telomerase activity and cell growth in vitroDyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance.Telomeres and disease.Genomic characterization of the inherited bone marrow failure syndromes.Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization.Telomere biology and translational research.Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.Telomeres: protecting chromosomes against genome instabilityThe challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failureTelomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.InTERTpreting telomerase structure and functionRevertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTelomeres and aging.Oral and dental phenotype of dyskeratosis congenita.Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes.Dyskeratosis congenita as a disorder of telomere maintenance.mRNA deadenylation and telomere disease.PCB153 reduces telomerase activity and telomere length in immortalized human skin keratinocytes (HaCaT) but not in human foreskin keratinocytes (NFK)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.Human diseases of telomerase dysfunction: insights into tissue aging.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-inhibition
P2860
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P2860
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations in the reverse trans ...... ents with bone marrow failure.
@ast
Mutations in the reverse trans ...... ents with bone marrow failure.
@en
Mutations in the reverse transcriptase component of telomerase
@nl
type
label
Mutations in the reverse trans ...... ents with bone marrow failure.
@ast
Mutations in the reverse trans ...... ents with bone marrow failure.
@en
Mutations in the reverse transcriptase component of telomerase
@nl
prefLabel
Mutations in the reverse trans ...... ents with bone marrow failure.
@ast
Mutations in the reverse trans ...... ents with bone marrow failure.
@en
Mutations in the reverse transcriptase component of telomerase
@nl
P2093
P1476
Mutations in the reverse trans ...... ents with bone marrow failure.
@en
P2093
Amanda Walne
Anna Marrone
Aroon Baskaradas
Inderjeet Dokal
Philip J Mason
Tom J Vulliamy
P304
P356
10.1016/J.BCMD.2004.12.008
P577
2005-05-01T00:00:00Z