about
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaTelomeres-structure, function, and regulationThe inherited bone marrow failure syndromesA novel dyskerin (DKC1) mutation is associated with familial interstitial pneumoniaDyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia.Pathogenesis of idiopathic pulmonary fibrosisQuality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion.The diagnosis and treatment of dyskeratosis congenita: a review.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Ribosomopathies: mechanisms of disease.The dyskerin ribonucleoprotein complex as an OCT4/SOX2 coactivator in embryonic stem cells.DNA damage responses and oxidative stress in dyskeratosis congenita.Differential Expression of Non-Shelterin Genes Associated with High Telomerase Levels and Telomere Shortening in Plasma Cell Disorders.GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant CellsRobust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita CellsCTC1 Mutations in a patient with dyskeratosis congenita.Enhanced stability of microRNA expression facilitates classification of FFPE tumour samples exhibiting near total mRNA degradation.RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.Mechanism of the AAA+ ATPases pontin and reptin in the biogenesis of H/ACA RNPs.Mechanisms of telomere loss and their consequences for chromosome instability.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-inhibitionA Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell TransplantationThe shelterin complex and hematopoiesis.Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita.Understanding telomere diseases through analysis of patient-derived iPS cells.Multiple genetic pathways regulate replicative senescence in telomerase-deficient yeast.Telomeres and disease: enter TERRA.Implications of multipotent mesenchymal stromal cell aging.Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.The wide-ranging clinical implications of the short telomere syndromes.Mammalian telomeres and their partnership with lamins.Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Fungal Ribotoxins: A Review of Potential Biotechnological Applications.Early-Life Experiences and Telomere Length in Adult Rhesus Monkeys: An Exploratory Study.A functional connection between dyskerin and energy metabolism.PARN Modulates Y RNA Stability and Its 3'-End Formation.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
The genetics of dyskeratosis congenita
@ast
The genetics of dyskeratosis congenita
@en
The genetics of dyskeratosis congenita
@nl
type
label
The genetics of dyskeratosis congenita
@ast
The genetics of dyskeratosis congenita
@en
The genetics of dyskeratosis congenita
@nl
prefLabel
The genetics of dyskeratosis congenita
@ast
The genetics of dyskeratosis congenita
@en
The genetics of dyskeratosis congenita
@nl
P2860
P3181
P1433
P1476
The genetics of dyskeratosis congenita
@en
P2093
Monica Bessler
Philip J Mason
P2860
P304
P3181
P356
10.1016/J.CANCERGEN.2011.11.002
P407
P577
2011-12-01T00:00:00Z