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Genetics of human telomere biology disorders
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 …
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences
Telomeres protect chromosome ends from damage and their length is linked with human
disease and aging. We developed a joint telomere length metric, combining quantitative …
disease and aging. We developed a joint telomere length metric, combining quantitative …
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential
Human genetic studies support an inverse causal relationship between leukocyte telomere
length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and …
length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and …
Leukocyte telomere length in children born following blastocyst-stage embryo transfer
C Wang, Y Gu, J Zhou, J Zang, X Ling, H Li, L Hu… - Nature medicine, 2022 - nature.com
Perinatal and childhood adverse outcomes associated with assisted reproductive
technology (ART) has been reported, but it remains unknown whether the initial leukocyte …
technology (ART) has been reported, but it remains unknown whether the initial leukocyte …
Novel genetic loci associated with osteoarthritis in multi-ancestry analyses in the Million Veteran Program and UK Biobank
MLN McDonald, P Lakshman Kumar… - Nature Genetics, 2022 - nature.com
Osteoarthritis is a common progressive joint disease. As no effective medical interventions
are available, osteoarthritis often progresses to the end stage, in which only surgical options …
are available, osteoarthritis often progresses to the end stage, in which only surgical options …
Age at menopause, leukocyte telomere length, and coronary artery disease in postmenopausal women
BACKGROUND: Premature menopause is a risk factor for accelerated cardiovascular aging,
but underlying mechanisms remain incompletely understood. This study investigated the …
but underlying mechanisms remain incompletely understood. This study investigated the …
Telomere length: implications for atherogenesis
Abstract Purpose of Review The purpose of the study is to explore the evidence linking
telomere length with atherosclerotic ischemic disease. Recent Findings There has been a …
telomere length with atherosclerotic ischemic disease. Recent Findings There has been a …
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in
human blood. The presence of mLOY is associated with altered blood cell counts and …
human blood. The presence of mLOY is associated with altered blood cell counts and …