Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
about
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndromeThe coding/non-coding overlapping architecture of the gene encoding the Drosophila pseudouridine synthaseConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaMissense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteinsThe genetics of dyskeratosis congenitaThe telomere syndromesIt all comes together at the ends: telomerase structure, function, and biogenesisShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyThe diagnostic approach to monogenic very early onset inflammatory bowel diseaseSmall RNAs with big implications: new insights into H/ACA snoRNA function and their role in human diseaseShort Telomeres in Key Tissues Initiate Local and Systemic Aging in ZebrafishMouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processingAdvances in the understanding of dyskeratosis congenitaThe genomics of inherited bone marrow failure: from mechanism to the clinic.Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.Genomic characterization of the inherited bone marrow failure syndromes.Syndromes of telomere shorteningInterferons, signal transduction pathways, and the central nervous system.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.The role of nuclear bodies in gene expression and disease.Dyskeratosis congenita in all its forms.InTERTpreting telomerase structure and functionBone marrow failure and the telomeropathies.Marrow failure: a window into ribosome biologyUnraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderGenetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.Telomerase in the human organism.Dyskeratosis congenita as a disorder of telomere maintenance.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.CTC1 Mutations in a patient with dyskeratosis congenita.Triallelic and epigenetic-like inheritance in human disorders of telomerase.Telomerase dysfunction and dyskeratosis congenita.Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpThe gastrointestinal manifestations of telomere-mediated disease.A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.The shelterin complex and hematopoiesis.
P2860
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P2860
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին 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
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@ast
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@en
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@nl
type
label
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@ast
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@en
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@nl
prefLabel
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@ast
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@en
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@nl
P2093
P2860
P1476
Unexplained aplastic anaemia, ...... keratosis congenita gene, DKC1
@en
P2093
R C Hennekam
S W Knight
T J Vulliamy
P2860
P304
P356
10.1046/J.1365-2141.1999.01690.X
P407
P577
1999-11-01T00:00:00Z