Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation

scientific article published on 09 April 2019

Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HEP.30557
P932PMC publication ID6594079
P698PubMed publication ID30964210

P2093author name stringCasey O'Connell
Hongtao Li
Gangning Liang
Linda Sher
David Conti
Rachel Hogen
Anastasia Martynova
Niquelle Wadé
Victor Chiu
P2860cites workTRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwindingQ24316035
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeQ24318816
Constitutional mutations in RTEL1 cause severe dyskeratosis congenitaQ24321641
A model to predict survival in patients with end-stage liver diseaseQ28199900
RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrityQ28513037
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotationQ28603064
Danazol Treatment for Telomere DiseasesQ29307230
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
RTEL1 contributes to DNA replication and repair and telomere maintenance.Q30520031
Incidence, prevalence, and clinical significance of abnormal hematologic indices in compensated cirrhosisQ33383677
Severe hematologic complications after lung transplantation in patients with telomerase complex mutationsQ33419942
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instabilityQ34339671
Human telomere biology: A contributory and interactive factor in aging, disease risks, and protectionQ34509804
Constitutional telomerase mutations are genetic risk factors for cirrhosisQ34862975
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.Q35645765
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate CancerQ37179254
Statistical analysis strategies for association studies involving rare variantsQ37799723
RTEL1: functions of a disease-associated helicase.Q38192278
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypesQ38730359
Telomere length in patients with pulmonary fibrosis associated with chronic lung allograft dysfunction and post-lung transplantation survivalQ40307232
Telomerase gene mutations are associated with cirrhosis formationQ43444556
RTEL1 inhibits trinucleotide repeat expansions and fragility.Q50316149
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic diseaseQ57177774
Heterozygous variants in bone marrow failure and myeloid neoplasmsQ57754008
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathiesQ57754132
Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing studyQ89067942
P433issue6
P304page(s)2652-2663
P577publication date2019-04-09
P1433published inHepatologyQ15724398
P1476titleTelomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation
P478volume69

Reverse relations

cites work (P2860)
Q92676754Liver Transplantation for Decompensated Cirrhosis Secondary to Telomerase Reverse Transcriptase (TERT) Mutation
Q91651595Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

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