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 …
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 …
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung
scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of …
scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of …
DNA helicases involved in DNA repair and their roles in cancer
RM Brosh Jr - Nature Reviews Cancer, 2013 - nature.com
Helicases have major roles in genome maintenance by unwinding structured nucleic acids.
Their prominence is marked by various cancers and genetic disorders that are linked to …
Their prominence is marked by various cancers and genetic disorders that are linked to …
G4‐associated human diseases
N Maizels - EMBO reports, 2015 - embopress.org
Recent research has established clear connections between G‐quadruplexes and human
disease. Features of quadruplex structures that promote genomic instability have been …
disease. Features of quadruplex structures that promote genomic instability have been …
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 …
Severe combined immunodeficiencies and related disorders
A Fischer, LD Notarangelo, B Neven… - Nature reviews Disease …, 2015 - nature.com
Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …
diseases that are characterized by an early onset and a profound block in the development …
Emerging insights into human health and NK cell biology from the study of NK cell deficiencies
EM Mace, JS Orange - Immunological reviews, 2019 - Wiley Online Library
Human NK cells are innate immune effectors that play a critical roles in the control of viral
infection and malignancy. The importance of their homeostasis and function can be …
infection and malignancy. The importance of their homeostasis and function can be …
[HTML][HTML] Emerging critical roles of Fe–S clusters in DNA replication and repair
Fe–S clusters are partners in the origin of life that predate cells, acetyl-CoA metabolism,
DNA, and the RNA world. The double helix solved the mystery of DNA replication by base …
DNA, and the RNA world. The double helix solved the mystery of DNA replication by base …
[HTML][HTML] Biogenesis of cytosolic and nuclear iron–sulfur proteins and their role in genome stability
VD Paul, R Lill - Biochimica Et Biophysica Acta (BBA)-Molecular Cell …, 2015 - Elsevier
Abstract Iron–sulfur (Fe–S) clusters are versatile protein cofactors that require numerous
components for their synthesis and insertion into apoproteins. In eukaryotes, maturation of …
components for their synthesis and insertion into apoproteins. In eukaryotes, maturation of …