X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
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Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndromeBMS1 is mutated in aplasia cutis congenitaThe coding/non-coding overlapping architecture of the gene encoding the Drosophila pseudouridine synthaseNhp2p and Nop10p are essential for the function of H/ACA snoRNPsCloning and characterization of a mammalian pseudouridine synthaseConserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAsThe Shwachman-Diamond SBDS protein localizes to the nucleolusHuman RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunitsTINF2 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 syndromeMissense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140.X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10Progeria: a rare genetic premature ageing disorderTelomere 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 NOP10Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteinsThe genetics of dyskeratosis congenitaTelomeres in diseaseThe telomere syndromesDribble, the Drosophila KRR1p homologue, is involved in rRNA processingThe 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 anemiaminifly, a Drosophila gene required for ribosome biogenesisA mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal HaemoglobinuriaCrystal structure determination and site-directed mutagenesis of the Pyrococcus abyssi aCBF5-aNOP10 complex reveal crucial roles of the C-terminal domains of both proteins in H/ACA sRNP activity.Telomeres in aging and disease: lessons from zebrafishMarkers of cellular senescence. Telomere shortening as a marker of cellular senescenceUnderstanding 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 fibrosisMolecular regulation of telomerase activity in agingEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease
P2860
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P2860
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@ast
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en-gb
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@nl
type
label
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@ast
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en-gb
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@nl
prefLabel
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@ast
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en-gb
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@nl
P2093
P2860
P3181
P356
P1433
P1476
X-linked dyskeratosis congenit ...... h putative nucleolar functions
@en
P2093
S M Klauck
S W Knight
T J Vulliamy
P2860
P2888
P3181
P356
10.1038/NG0598-32
P407
P577
1998-05-01T00:00:00Z
P5875
P6179
1003544312