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 …

Sha** human telomeres: from shelterin and CST complexes to telomeric chromatin organization

CJ Lim, TR Cech - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The regulation of telomere length in mammals is crucial for chromosome end-cap** and
thus for maintaining genome stability and cellular lifespan. This process requires …

The telomere syndromes

M Armanios, EH Blackburn - Nature Reviews Genetics, 2012 - nature.com
There has been mounting evidence of a causal role for telomere dysfunction in a number of
degenerative disorders. Their manifestations encompass common disease states such as …

Regulation of human telomerase in homeostasis and disease

CM Roake, SE Artandi - Nature reviews Molecular cell biology, 2020 - nature.com
Telomerase is a ribonucleoprotein complex, the catalytic core of which includes the
telomerase reverse transcriptase (TERT) and the non-coding human telomerase RNA (hTR) …

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 …

CST–Polα/Primase: the second telomere maintenance machine

SW Cai, T de Lange - Genes & Development, 2023 - genesdev.cshlp.org
It has been known for decades that telomerase extends the 3′ end of linear eukaryotic
chromosomes and dictates the telomeric repeat sequence based on the template in its RNA …

Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences

OS Burren, RS Dhindsa, SVV Deevi, S Wen, A Nag… - Nature Genetics, 2024 - nature.com
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 …

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 …

Telomeres and age-related disease: how telomere biology informs clinical paradigms

M Armanios - The Journal of clinical investigation, 2013 - Am Soc Clin Investig
Telomere length shortens with age and predicts the onset of replicative senescence.
Recently, short telomeres have been linked to the etiology of degenerative diseases such as …

Bone marrow failure and the telomeropathies

DM Townsley, B Dumitriu… - Blood, The Journal of the …, 2014 - ashpublications.org
Our understanding of the pathophysiology of aplastic anemia is undergoing significant
revision, with implications for diagnosis and treatment. Constitutional and acquired disease …