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 …

Telomeropathies: An emerging spectrum disorder

B Holohan, WE Wright, JW Shay - Journal of Cell Biology, 2014 - rupress.org
A constellation of related genetic diseases are caused by defects in the telomere
maintenance machinery. These disorders, often referred to as telomeropathies, share …

The role of telomere biology in bone marrow failure and other disorders

SA Savage, BP Alter - Mechanisms of ageing and development, 2008 - Elsevier
Telomeres, consisting of nucleotide repeats and a protein complex at chromosome ends,
are essential in maintaining chromosomal integrity. Dyskeratosis congenita (DC) is the …

Syndromes of telomere shortening

M Armanios - Annual review of genomics and human genetics, 2009 - annualreviews.org
Telomeres and telomerase were initially discovered in pursuit of questions about how the
ends of chromosomes are maintained. The implications of these discoveries to age-related …

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 …

Telomere-associated aging disorders

PL Opresko, JW Shay - Ageing research reviews, 2017 - Elsevier
Telomeres are dynamic nucleoprotein-DNA structures that cap and protect linear
chromosome ends. Several monogenic inherited diseases that display features of human …

The short and long telomere syndromes: paired paradigms for molecular medicine

SE Stanley, M Armanios - Current opinion in genetics & development, 2015 - Elsevier
Recent advances have defined a role for abnormally short telomeres in a broad spectrum of
genetic disorders. They include rare conditions such as dyskeratosis congenita as well …

[HTML][HTML] 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 …

Molecular basis of telomere dysfunction in human genetic diseases

G Sarek, P Marzec, P Margalef… - Nature structural & …, 2015 - nature.com
Mutations in genes encoding proteins required for telomere structure, replication, repair and
length maintenance are associated with several debilitating human genetic disorders. These …

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 …