Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome
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G-quadruplexes and helicasesUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed LungsDiscovery of single-gene inborn errors of immunity by next generation sequencingMolecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndromeTelomerase Regulation from Beginning to the EndAssociation between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han populationThe genomics of inherited bone marrow failure: from mechanism to the clinic.Clinical and Molecular Heterogeneity of RTEL1 DeficiencyIntegrated analysis of promoter methylation and expression of telomere related genes in breast cancer.Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.The diagnosis and treatment of dyskeratosis congenita: a review.Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.Ribosomopathies: mechanisms of disease.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderEltrombopag Added to Standard Immunosuppression for Aplastic Anemia.Telomere-regulating genes and the telomere interactome in familial cancers.Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.Association between regulator of telomere elongation helicase 1 polymorphism and susceptibility to glioma.Rare variants in RTEL1 are associated with familial interstitial pneumoniaExome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.Identification of telomere dysfunction in Friedreich ataxiaThe Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.SLX4 contributes to telomere preservation and regulated processing of telomeric joint molecule intermediatesMutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.G4-associated human diseases.The molecular genetics of the telomere biology disorders.A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.The role of the RTEL1 rs2297440 polymorphism in the risk of glioma development: a meta-analysis.Mechanistic and biological considerations of oxidatively damaged DNA for helicase-dependent pathways of nucleic acid metabolism.Deficiency of the Arabidopsis helicase RTEL1 triggers a SOG1-dependent replication checkpoint in response to DNA cross-links.Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.Telomeres revisited: RTEL1 variants in pulmonary fibrosis.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.RecQ and Fe-S helicases have unique roles in DNA metabolism dictated by their unwinding directionality, substrate specificity, and protein interactions.Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.Stabilization of Reversed Replication Forks by Telomerase Drives Telomere Catastrophe.
P2860
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P2860
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
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
@wuu
name
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@ast
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en-gb
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@nl
type
label
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@ast
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en-gb
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@nl
prefLabel
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@ast
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en-gb
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@nl
P2093
P2860
P921
P3181
P356
P1476
Inherited mutations in the hel ...... Hoyeraal-Hreidarsson syndrome
@en
P2093
Alan J Fox
Aliah Molczan
Galina Glousker
Jayaraju Dheekollu
Jonathan Schug
Klaus H Kaestner
Memet Aker
Michael Schertzer
Olga Vladimirova
P2860
P304
P3181
P356
10.1073/PNAS.1300600110
P407
P577
2013-09-03T00:00:00Z