Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
about
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).The genetics of dyskeratosis congenitaA mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal HaemoglobinuriaIt 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 diseaseUnraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTelomerase in the human organism.Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexityDecreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.The many facets of H/ACA ribonucleoproteinsTelomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling.Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.Telomerase dysfunction and dyskeratosis congenita.The gastrointestinal manifestations of telomere-mediated disease.Regulation of the human MSH6 gene by the Sp1 transcription factor and alteration of promoter activity and expression by polymorphisms.Telomere dysfunction in human diseases: the long and short of it!Genetic and environmental factors influencing human diseases with telomere dysfunction.H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.Insight into the Protein Components of the Box H/ACA RNPPathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.Medical genetics and epigenetics of telomerase.H/ACA Box Small Nucleolar RNA 7A Promotes the Self-Renewal of Human Umbilical Cord Mesenchymal Stem Cells.Understanding chronic neutropenia: life is short.Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.Clonal hematopoiesis in patients with dyskeratosis congenita.Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
P2860
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P2860
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին 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
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@ast
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@en
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@nl
type
label
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@ast
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@en
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@nl
prefLabel
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@ast
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@en
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@nl
P2093
P356
P1433
P1476
Identification of novel DKC1 m ...... pathophysiology and diagnosis
@en
P2093
P2888
P304
P356
10.1007/S004390100494
P407
P577
2001-04-01T00:00:00Z
P6179
1053268486