Genetics of human telomere biology disorders
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …
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 …
stress and growth stimulation on the basis of previous cell divisions and DNA damage. At …
Telomeres: protecting chromosomes against genome instability
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 …
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 …
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 …
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 …
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …
TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends
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 …
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
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 …
clear understanding of their mechanism of action. Blood counts of patients with dyskeratosis …
Molecular mechanisms of telomere biology disorders
Genetic mutations that affect telomerase function or telomere maintenance result in a variety
of diseases collectively called telomeropathies. This wide spectrum of disorders, which …
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
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure
syndrome, have abnormalities in telomere biology, including very short telomeres and …
syndrome, have abnormalities in telomere biology, including very short telomeres and …