An update on the biology and management of dyskeratosis congenita and related telomere biology disorders

MR Niewisch, SA Savage - Expert review of hematology, 2019 - Taylor & Francis
ABSTRACT Introduction: Telomere biology disorders (TBDs) encompass a group of
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …

Reflections on telomere dynamics and ageing-related diseases in humans

A Aviv, JW Shay - … Transactions of the Royal Society B …, 2018 - royalsocietypublishing.org
Epidemiological studies have principally relied on measurements of telomere length (TL) in
leucocytes, which reflects TL in other somatic cells. Leucocyte TL (LTL) displays vast …

Measurement and initial characterization of leukocyte telomere length in 474,074 participants in UK Biobank

V Codd, M Denniff, C Swinfield, SC Warner… - Nature aging, 2022 - nature.com
Leukocyte telomere length (LTL) is a proposed marker of biological age. Here we report the
measurement and initial characterization of LTL in 474,074 participants in UK Biobank. We …

Determinants of telomere length across human tissues

K Demanelis, F Jasmine, LS Chen, M Chernoff, L Tong… - Science, 2020 - science.org
INTRODUCTION Telomeres are DNA-protein complexes located at the end of chromosomes
that protect chromosome ends from degradation and fusion. The DNA component of …

[HTML][HTML] Beginning at the ends: telomeres and human disease

SA Savage - F1000Research, 2018 - ncbi.nlm.nih.gov
Studies of rare and common illnesses have led to remarkable progress in the understanding
of the role of telomeres (nucleoprotein complexes at chromosome ends essential for …

[HTML][HTML] Telomeres and COVID‐19

A Aviv - The FASEB Journal, 2020 - ncbi.nlm.nih.gov
The medical, public health, and scientific communities are grappling with monumental
imperatives to contain COVID‐19, develop effective vaccines, identify efficacious treatments …

Mutations, cancer and the telomere length paradox

A Aviv, JJ Anderson, JW Shay - Trends in cancer, 2017 - cell.com
Individuals with short telomeres should be at increased risk for cancer, since short telomeres
lead to genomic instability–a hallmark of cancer. However, individuals with long telomeres …

Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder

R Polimanti, J Gelernter - PLoS genetics, 2017 - journals.plos.org
The human brain is the outcome of innumerable evolutionary processes; the systems
genetics of psychiatric disorders could bear their signatures. On this basis, we analyzed five …

[HTML][HTML] Telomeres and the natural lifespan limit in humans

T Steenstrup, JD Kark, S Verhulst, M Thinggaard… - Aging (Albany …, 2017 - ncbi.nlm.nih.gov
An ongoing debate in demography has focused on whether the human lifespan has a
maximal natural limit. Taking a mechanistic perspective, and knowing that short telomeres …

Genetic, environmental and lifestyle determinants of accelerated telomere attrition as contributors to risk and severity of multiple sclerosis

M Hecker, J Bühring, B Fitzner, PS Rommer, UK Zettl - Biomolecules, 2021 - mdpi.com
Telomeres are protective structures at the ends of linear chromosomes. Shortened telomere
lengths (TL) are an indicator of premature biological aging and have been associated with a …