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 …

Telomeres and aging

G Aubert, PM Lansdorp - Physiological reviews, 2008 - journals.physiology.org
Telomeres play a central role in cell fate and aging by adjusting the cellular response to
stress and growth stimulation on the basis of previous cell divisions and DNA damage. At …

Telomeres: protecting chromosomes against genome instability

RJ O'sullivan, J Karlseder - Nature reviews Molecular cell biology, 2010 - nature.com
The natural ends of linear chromosomes require unique genetic and structural adaptations
to facilitate the protection of genetic material. This is achieved by the sequestration of the …

Guidelines for the diagnosis and management of aplastic anaemia.

JCW Marsh, SE Ball, J Cavenagh… - British journal of …, 2009 - search.ebscohost.com
The article presents the guideline for the diagnosis and management of aplastic anaemia. It
aims to provide healthcare professionals with clear guidance on the diagnosis and …

Pathophysiology and management of inherited bone marrow failure syndromes

A Shimamura, BP Alter - Blood reviews, 2010 - Elsevier
The inherited marrow failure syndromes are a diverse set of genetic disorders characterized
by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly …

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 …

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends

FL Zhong, LFZ Batista, A Freund, MF Pech… - Cell, 2012 - cell.com
Telomere synthesis in cancer cells and stem cells involves trafficking of telomerase to Cajal
bodies, and telomerase is thought to be recruited to telomeres through interactions with …

Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells

RT Calado, WT Yewdell, KL Wilkerson… - Blood, The Journal …, 2009 - ashpublications.org
Androgens have been used in the treatment of bone marrow failure syndromes without a
clear understanding of their mechanism of action. Blood counts of patients with dyskeratosis …

Molecular mechanisms of telomere biology disorders

S Grill, J Nandakumar - Journal of Biological Chemistry, 2021 - ASBMB
Genetic mutations that affect telomerase function or telomere maintenance result in a variety
of diseases collectively called telomeropathies. This wide spectrum of disorders, which …

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

SA Savage, N Giri, GM Baerlocher, N Orr… - The American Journal of …, 2008 - cell.com
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure
syndrome, have abnormalities in telomere biology, including very short telomeres and …