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 …
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 …
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 …
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 …
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 …
[PDF][PDF] Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by
a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy …
a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy …
[HTML][HTML] Telomere length: Implications for atherogenesis
H Yin, JG Pickering - Current Atherosclerosis Reports, 2023 - Springer
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 …
[HTML][HTML] Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
A Alonso-Gonzalez, E Tosco-Herrera… - Frontiers in …, 2023 - frontiersin.org
Idiopathic pulmonary fibrosis (IPF) is a chronic, rare progressive lung disease, characterized
by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib …
by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib …
[HTML][HTML] Differential methylation of telomere-related genes is associated with kidney disease in individuals with type 1 diabetes
C Hill, S Duffy, LM Kettyle, L McGlynn, N Sandholm… - Genes, 2023 - mdpi.com
Diabetic kidney disease (DKD) represents a major global health problem. Accelerated
ageing is a key feature of DKD and, therefore, characteristics of accelerated ageing may …
ageing is a key feature of DKD and, therefore, characteristics of accelerated ageing may …