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 …

Human telomere biology: a contributory and interactive factor in aging, disease risks, and protection

EH Blackburn, ES Epel, J Lin - Science, 2015 - science.org
Telomeres are the protective end-complexes at the termini of eukaryotic chromosomes.
Telomere attrition can lead to potentially maladaptive cellular changes, block cell division …

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 …

[HTML][HTML] Telomere-driven diseases and telomere-targeting therapies

P Martínez, MA Blasco - The Journal of cell biology, 2017 - ncbi.nlm.nih.gov
Telomeres, the protective ends of linear chromosomes, shorten throughout an individual's
lifetime. Telomere shortening is proposed to be a primary molecular cause of aging. Short …

Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L

DH Chen, JE Below, A Shimamura, SB Keel… - The American Journal of …, 2016 - cell.com
Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable
hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia …

Dyskeratosis congenita

SA Savage, BP Alter - Hematology/oncology clinics of North America, 2009 - Elsevier
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized
clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and …

Long telomeres and cancer risk: the price of cellular immortality

EJ McNally, PJ Luncsford… - The Journal of clinical …, 2019 - Am Soc Clin Investig
The distribution of telomere length in humans is broad, but it has finite upper and lower
boundaries. Growing evidence shows that there are disease processes that are caused by …

Epigenetic regulation of skin cells in natural aging and premature aging diseases

D Orioli, E Dellambra - Cells, 2018 - mdpi.com
Skin undergoes continuous renewal throughout an individual's lifetime relying on stem cell
functionality. However, a decline of the skin regenerative potential occurs with age. The …

The genomics of inherited bone marrow failure: from mechanism to the clinic

T Wegman‐Ostrosky, SA Savage - British journal of …, 2017 - Wiley Online Library
The inherited bone marrow failure syndromes (IBMFS) typically present with significant
cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia …