Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome
about
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaThe genetics of dyskeratosis congenitaStructure and function of the telomeric CST complexCell biology of disease: Telomeropathies: an emerging spectrum disorderMutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndromeUnraveling 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.Dyskeratosis congenita as a disorder of telomere maintenance.Dyskeratosis congenita and the DNA damage response.Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.Telomere dysfunction in human bone marrow failure syndromes.Telomere 3' overhang and disease.Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.Heterozygous variants in bone marrow failure and myeloid neoplasms
P2860
Q24318816-91D1BB55-727F-4219-BC1A-55556262746EQ24321641-75C9F2CE-1AD3-4A9F-B59F-0B643AEBB59AQ24599906-7AE8D56D-8A13-4FA8-8C8D-10975956ED2FQ26745414-CC9C8A94-44BF-4150-ABC9-3DC2F63705CEQ28385689-3B8556FA-DB25-4D83-BE52-5DC5ADF6024CQ34212004-001F9390-9D35-472E-8469-AC53E0FAC876Q34474968-0CA739B3-9A79-4A4D-89F6-B51EF9A662FCQ34506827-DEE77673-57EB-493A-9712-D53BEF12CF77Q35529338-72BED4E9-2FEA-44F0-B9BA-BB8E8943E5D2Q35895247-0286EC96-D533-462A-8966-6A4F6B5FB46FQ37178997-54F4A9A9-FCEA-4B9C-8994-997F28C524B0Q37885748-4FDA8920-924C-4594-98FB-76E7C6F82217Q46811097-8B382854-5B63-4698-9875-0A0E31121AF4Q51764559-28635539-2FA1-4148-806D-38DC44AF5F98Q57754008-98A802F4-CF03-4F80-A69D-91BB906322C4
P2860
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականին հրատարակուած գիտական յօդուած
@hyw
2009 թվականին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@ast
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en-gb
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@nl
type
label
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@ast
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en-gb
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@nl
prefLabel
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@ast
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en-gb
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@nl
P2093
P2860
P3181
P1433
P1476
Diminished telomeric 3' overha ...... Hoyeraal-Hreidarsson syndrome
@en
P2093
Carmelit Richler
Elly Ordan
Memet Aker
Rotem Shponkin
Yehuda Tzfati
P2860
P3181
P356
10.1371/JOURNAL.PONE.0005666
P407
P577
2009-01-01T00:00:00Z