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 …

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 …

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

BD Stuart, J Choi, S Zaidi, C **ng, B Holohan, R Chen… - Nature …, 2015 - nature.com
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 …

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 …

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 …

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 …

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 …

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 …

[HTML][HTML] Emerging critical roles of Fe–S clusters in DNA replication and repair

JO Fuss, CL Tsai, JP Ishida, JA Tainer - Biochimica et Biophysica Acta (BBA …, 2015 - Elsevier
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 …

[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 …