The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
about
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndromeThe mammalian transcriptome and the function of non-coding DNA sequencesNon–coding RNA genes and the modern RNA worldMutation in myosin heavy chain 6 causes atrial septal defectIdentification of ATPases pontin and reptin as telomerase components essential for holoenzyme assemblyAn enhanced H/ACA RNP assembly mechanism for human telomerase RNATINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesDynamic association and localization of human H/ACA RNP proteinsMitotic spindle destabilization and genomic instability in Shwachman-Diamond syndromeDeletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndromeHuman telomerase and its regulationHaploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaAccelerated telomere shortening in response to life stressTelomere elongation in induced pluripotent stem cells from dyskeratosis congenita patientsGenetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10The genetics of dyskeratosis congenitaTelomeres in diseaseTelomerase gene therapy in adult and old mice delays aging and increases longevity without increasing cancerThe telomere syndromesDyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNPThe telomerase databaseSex 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 congenitaTelomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenitaMutations in the SBDS gene in acquired aplastic anemiaA mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal HaemoglobinuriaA human-Tetrahymena pseudoknot chimeric telomerase RNA reconstitutes a nonprocessive enzyme in vitro that is defective in telomere elongationHigh incidence of rapid telomere loss in telomerase-deficient Caenorhabditis elegansOral Manifestations and Molecular Basis of Oral Genodermatoses: A Review.Telomeres in aging and disease: lessons from zebrafishTelomeres, NAFLD and Chronic Liver DiseaseUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed LungsThe short and long telomere syndromes: paired paradigms for molecular medicineIt all comes together at the ends: telomerase structure, function, and biogenesisTelomerase and idiopathic pulmonary fibrosisBiology of telomeres: importance in etiology of esophageal cancer and as therapeutic targetShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyCellular mechanisms of tissue fibrosis. 7. New insights into the cellular mechanisms of pulmonary fibrosisMutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA.YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA.
P2860
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P2860
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@ast
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@en
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@nl
type
label
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@ast
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@en
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@nl
prefLabel
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@ast
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@en
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@nl
P2093
P3181
P356
P1433
P1476
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
@en
P2093
A Dearlove
T Vulliamy
P2888
P3181
P356
10.1038/35096585
P407
P577
2001-09-27T00:00:00Z
P5875
P6179
1037399358