X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factorMissense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaHuman H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10The genetics of dyskeratosis congenitaSex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cellsTINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaIt 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 diseaseTelomere shortening in human diseasesMutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA.Implications of telomeres and telomerase in endometrial pathologyPhysiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear EdgeUnexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1Short Telomeres in Key Tissues Initiate Local and Systemic Aging in ZebrafishA novel dyskerin (DKC1) mutation is associated with familial interstitial pneumoniaAdvances in the understanding of dyskeratosis congenitaStructure-function relationships of archaeal Cbf5 during in vivo RNA-guided pseudouridylation.[Dyskeratosis congenita in a 40-year-old patient]Current diagnosis of inherited bone marrow failure syndromes.Dyskerin ablation in mouse liver inhibits rRNA processing and cell division.Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.Interferons, signal transduction pathways, and the central nervous system.Dyskeratosis congenita in all its forms.Ectodermal dysplasias: not only 'skin' deep.Multiple Mechanisms Contribute To Telomere Maintenance.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderThe Aspergillus nidulans swoC1 mutant shows defects in growth and development.Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status.The dyskerin ribonucleoprotein complex as an OCT4/SOX2 coactivator in embryonic stem cells.Telomere-regulating genes and the telomere interactome in familial cancers.The many facets of H/ACA ribonucleoproteinsPartial methylation at Am100 in 18S rRNA of baker's yeast reveals ribosome heterogeneity on the level of eukaryotic rRNA modification.Pseudouridine formation in archaeal RNAs: The case of Haloferax volcanii.Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita.Towards a new classification of ectodermal dysplasias.Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells.A role for heterochromatin protein 1γ at human telomeres.Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling.Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.
P2860
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P2860
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
X-linked dyskeratosis congenit ...... nse mutations in the DKC1 gene
@nl
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@ast
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@en
type
label
X-linked dyskeratosis congenit ...... nse mutations in the DKC1 gene
@nl
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@ast
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@en
prefLabel
X-linked dyskeratosis congenit ...... nse mutations in the DKC1 gene
@nl
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@ast
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@en
P2093
P2860
P3181
P356
P1476
X-linked dyskeratosis congenit ...... se mutations in the DKC1 gene.
@en
P2093
Greschner S
Lestringant G
Stavrides G
P2860
P3181
P356
10.1086/302446
P407
P577
1999-07-01T00:00:00Z