Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome
about
Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleasesShelterin complex and associated factors at human telomeresThe Chemical Biology of Human Metallo-β-Lactamase Fold ProteinsGenetics of SCIDCell biology of disease: Telomeropathies: an emerging spectrum disorderApollo contributes to G overhang maintenance and protects leading-end telomeresTRF2 and lamin A/C interact to facilitate the functional organization of chromosome endsGenomic characterization of the inherited bone marrow failure syndromes.The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development.Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderSnm1B interacts with PSF2.Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks.Comprehensive repertoire of foldable regions within whole genomes.Dyskeratosis congenita as a disorder of telomere maintenance.Dyskeratosis congenita and the DNA damage response.A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.Complex interactions between the DNA-damage response and mammalian telomeres.Control of telomerase action at human telomeresThe 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.A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.Telomere dysfunction in human bone marrow failure syndromes.Newborn screening for primary immunodeficiencies: beyond SCID and XLA.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.How will telomeric complex be further contributed to our longevity? - the potential novel biomarkers of telomere complex counteracting both aging and cancer.Modern management of primary T-cell immunodeficiencies.DNA Replication Origins and Fork Progression at Mammalian TelomeresPrimary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.SNM1B/Apollo in the DNA damage response and telomere maintenanceMutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Isolation of chromatin from dysfunctional telomeres reveals an important role for Ring1b in NHEJ-mediated chromosome fusionsFor cancers there is more to life than a longer G-strand.The structures of the SNM1A and SNM1B/Apollo nuclease domains reveal a potential basis for their distinct DNA processing activities.Linear motifs confer functional diversity onto splice variants.[Dyskeratosis congenita: short telomeres are not the rule].Heterozygous variants in bone marrow failure and myeloid neoplasms
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P2860
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome
description
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 2010
@ast
im Juni 2010 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2010/06/01)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/06/01)
@nl
наукова стаття, опублікована в червні 2010
@uk
name
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@ast
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@en
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@nl
type
label
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@ast
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@en
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@nl
prefLabel
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@ast
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@en
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Function of Apollo (SNM1B) at ...... Hoyeraal-Hreidarsson syndrome
@en
P2093
Chantal Azerrad
Jean Soulier
Jean-Pierre de Villartay
Laetitia Gaillard
P2860
P304
10097–10102
P3181
P356
10.1073/PNAS.0914918107
P407
P577
2010-06-01T00:00:00Z