Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

The many faces of the helicase RTEL1 at telomeres and beyond

N Hourvitz, A Awad, Y Tzfati - Trends in Cell Biology, 2024 - cell.com
Regulator of telomere elongation 1 (RTEL1) is known as a DNA helicase that is important for
telomeres and genome integrity. However, the diverse phenotypes of RTEL1 dysfunction …

Impact of diagnostic genetics on remission MRD and transplantation outcomes in older patients with AML

HM Murdock, HT Kim, N Denlinger… - Blood, The Journal …, 2022 - ashpublications.org
Older patients with acute myeloid leukemia (AML) have high relapse risk and poor survival
after allogeneic hematopoietic cell transplantation (HCT). Younger patients may receive …

Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts

RM Shallis, R Ahmad, AM Zeidan - European journal of …, 2018 - Wiley Online Library
Aplastic anemia (AA) is rare disorder of bone marrow failure which if severe and not
appropriately treated is highly fatal. AA is characterized by morphologic marrow features …

Network inference with Granger causality ensembles on single-cell transcriptomics

A Deshpande, LF Chu, R Stewart, A Gitter - Cell reports, 2022 - cell.com
Cellular gene expression changes throughout a dynamic biological process, such as
differentiation. Pseudotimes estimate cells' progress along a dynamic process based on …

The clinical and functional effects of TERT variants in myelodysplastic syndrome

CR Reilly, M Myllymäki, R Redd… - Blood, The Journal …, 2021 - ashpublications.org
Germline pathogenic TERT variants are associated with short telomeres and an increased
risk of developing myelodysplastic syndrome (MDS) among patients with a telomere biology …

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome

M Benyelles, MF O'donohue… - Human Molecular …, 2020 - academic.oup.com
Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase
complex, constituted of the catalytic subunit TERT, the RNA matrix h TR and several …

Hypoplastic myelodysplastic syndrome and acquired aplastic anemia: Immune-mediated bone marrow failure syndromes

H Votavova, M Belickova - International journal of …, 2021 - spandidos-publications.com
Hypoplastic myelodysplastic syndrome (hMDS) and aplastic anemia (AA) are rare
hematopoietic disorders characterized by pancytopenia with hypoplastic bone marrow (BM) …

Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

R Borie, D Bouvry, V Cottin, C Gauvain… - European …, 2019 - publications.ersnet.org
Regulator of telomere length 1 (RTEL1) mutations have been evidenced in 5–9% of familial
pulmonary fibrosis; however, the phenotype of patients with interstitial lung disease (ILD) …

[HTML][HTML] Pathogenic TERT promoter variants in telomere diseases

F Gutierrez-Rodrigues, FS Donaires, A Pinto… - Genetics in …, 2019 - Elsevier
Purpose The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a
mechanism of tumorigenesis. In nonmalignant diseases, TERTp variants have been …