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 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 …

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Z Li, X Li, H Zhou, SM Gaynor, MS Selvaraj… - Nature …, 2022 - nature.com
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 …

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 …

Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential

T Nakao, AG Bick, MA Taub, SM Zekavat, MM Uddin… - Science …, 2022 - science.org
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 …

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 …

[PDF][PDF] Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

H Tummala, A Walne, R Buccafusca, J Alnajar… - The American Journal of …, 2022 - cell.com
Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by
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 …

[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 …

[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 …