Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
about
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeHallmarks of progeroid syndromes: lessons from mice and reprogrammed cellsThe short and long telomere syndromes: paired paradigms for molecular medicineRoles of DNA helicases in the maintenance of genome integrityMolecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndromeRTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stabilityCell biology of disease: Telomeropathies: an emerging spectrum disorderThe genomics of inherited bone marrow failure: from mechanism to the clinic.Many disease-associated variants of hTERT retain high telomerase enzymatic activityGenomic characterization of the inherited bone marrow failure syndromes.Clinical and Molecular Heterogeneity of RTEL1 DeficiencyTelomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.The N-terminal domain of human DNA helicase Rtel1 contains a redox active iron-sulfur cluster.The diagnosis and treatment of dyskeratosis congenita: a review.Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Bone marrow failure and the telomeropathies.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTelomere-regulating genes and the telomere interactome in familial cancers.Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexityA recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.Rare variants in RTEL1 are associated with familial interstitial pneumoniaDiagnosis of Fanconi anemia by diepoxybutane analysis.Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.DNA helicases involved in DNA repair and their roles in cancerTriallelic and epigenetic-like inheritance in human disorders of telomerase.The shelterin complex and hematopoiesis.Recognizing familial myeloid leukemia in adults.The molecular genetics of the telomere biology disorders.Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosisApplications of high-throughput DNA sequencing to benign hematologyA TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.Understanding telomere diseases through analysis of patient-derived iPS cells.Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneStop pulling my strings - what telomeres taught us about the DNA damage response.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.
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P2860
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
description
2013 nî lūn-bûn
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2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@ast
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en-gb
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@nl
type
label
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@ast
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en-gb
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@nl
prefLabel
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@ast
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en-gb
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@nl
P2093
P2860
P3181
P1476
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
@en
P2093
Amanda J Walne
Inderjeet Dokal
Michael Kirwan
Tom Vulliamy
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.02.001
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P577
2013-03-07T00:00:00Z