Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder
about
The short and long telomere syndromes: paired paradigms for molecular medicineThe genomics of inherited bone marrow failure: from mechanism to the clinic.Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant CellsMutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpThe shelterin complex and hematopoiesis.Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Structural and functional consequences of a disease mutation in the telomere protein TPP1.Telomere-driven diseases and telomere-targeting therapies.Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shorteningClinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.Long tails, short telomeres: Dyskeratosis congenita.Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy.Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.Neurological Manifestations of Primary ImmunodeficienciesExtended clinical and genetic spectrum associated with biallelic mutationsDiagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
P2860
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P2860
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder
description
2015 nî lūn-bûn
@nan
2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Unraveling the pathogenesis of ...... plex telomere biology disorder
@ast
Unraveling the pathogenesis of ...... plex telomere biology disorder
@en
Unraveling the pathogenesis of ...... plex telomere biology disorder
@nl
type
label
Unraveling the pathogenesis of ...... plex telomere biology disorder
@ast
Unraveling the pathogenesis of ...... plex telomere biology disorder
@en
Unraveling the pathogenesis of ...... plex telomere biology disorder
@nl
prefLabel
Unraveling the pathogenesis of ...... plex telomere biology disorder
@ast
Unraveling the pathogenesis of ...... plex telomere biology disorder
@en
Unraveling the pathogenesis of ...... plex telomere biology disorder
@nl
P2860
P50
P356
P1476
Unraveling the pathogenesis of ...... plex telomere biology disorder
@en
P2093
Galina Glousker
Yehuda Tzfati
P2860
P304
P356
10.1111/BJH.13442
P407
P577
2015-05-04T00:00:00Z