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 …
prevent the activation of DNA damage response and repair pathways. Numerous factors …
The role of telomeres in human disease
M Armanios - Annual review of genomics and human genetics, 2022 - annualreviews.org
Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades,
it has informed understanding of common disease mechanisms with broad implications for …
it has informed understanding of common disease mechanisms with broad implications for …
Common and rare variant associations with clonal haematopoiesis phenotypes
MD Kessler, A Damask, S O'Keeffe, N Banerjee, D Li… - Nature, 2022 - nature.com
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …
by somatic driver mutations, affects over a third of people, yet remains poorly understood …
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
Thymidine nucleotide metabolism controls human telomere length
W Mannherz, S Agarwal - Nature genetics, 2023 - nature.com
Telomere length in humans is associated with lifespan and severe diseases, yet the genetic
determinants of telomere length remain incompletely defined. Here we performed genome …
determinants of telomere length remain incompletely defined. Here we performed genome …
Distinguishing between driver and passenger mechanisms of aging
JP de Magalhães - Nature Genetics, 2024 - nature.com
Understanding why we age is a long-standing question, and many mechanistic theories of
aging have been proposed. Owing to limitations in studying the aging process, including a …
aging have been proposed. Owing to limitations in studying the aging process, including a …
Association between COVID‐19 and telomere length: a bidirectional Mendelian randomization study
D Huang, S Lin, J He, Q Wang… - Journal of medical …, 2022 - Wiley Online Library
Several traditional observational studies suggested an association between COVID‐19 and
leukocyte telomere length (LTL), a biomarker for biological age. However, whether there …
leukocyte telomere length (LTL), a biomarker for biological age. However, whether there …
Prospective study design and data analysis in UK Biobank
NE Allen, B Lacey, DA Lawlor, JP Pell… - Science translational …, 2024 - science.org
Population-based prospective studies, such as UK Biobank, are valuable for generating and
testing hypotheses about the potential causes of human disease. We describe how UK …
testing hypotheses about the potential causes of human disease. We describe how UK …
Alcohol consumption and telomere length: Mendelian randomization clarifies alcohol's effects
Alcohol's impact on telomere length, a proposed marker of biological aging, is unclear. We
performed the largest observational study to date (in n= 245,354 UK Biobank participants) …
performed the largest observational study to date (in n= 245,354 UK Biobank participants) …