Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
about
The short and long telomere syndromes: paired paradigms for molecular medicineATM and ATR Signaling Regulate the Recruitment of Human Telomerase to TelomeresThe genomics of inherited bone marrow failure: from mechanism to the clinic.Contributions of the TEL-patch amino acid cluster on TPP1 to telomeric DNA synthesis by human telomerase.Bone marrow failure and the telomeropathies.Genetics of familial melanoma: 20 years after CDKN2A.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderPoly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.mRNA deadenylation and telomere disease.A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cellsMultiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis.Telomere status in chronic lymphocytic leukemia with TP53 disruption.Genetic analysis of impaired trimethylamine metabolism using whole exome sequencingHoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-UpThe shelterin complex and hematopoiesis.The molecular genetics of the telomere biology disorders.Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.Structural and functional consequences of a disease mutation in the telomere protein TPP1.The wide-ranging clinical implications of the short telomere syndromes.Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.The N Terminus of the OB Domain of Telomere Protein TPP1 Is Critical for Telomerase Action.Dysfunctional telomeres and hematological disorders.Introduction to Telomeres and Telomerase.A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.Beginning at the ends: telomeres and human disease.
P2860
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P2860
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@ast
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@en
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@nl
type
label
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@ast
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@en
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@nl
prefLabel
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@ast
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@en
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@nl
P2093
P2860
P50
P1433
P1476
Inherited bone marrow failure ...... ncoding telomere protein TPP1.
@en
P2093
Ahmad Al-Odaib
Brendan Keating
Hakon Hakonarson
Hilda A Pickett
Jiankang Li
Juliana Teo
Melissa Kartawinata
Tatjana Kilo
Yulan Chen
P2860
P304
P356
10.1182/BLOOD-2014-08-596445
P407
P577
2014-09-09T00:00:00Z