[HTML][HTML] Alternative end-joining pathway (s): bricolage at DNA breaks

P Frit, N Barboule, Y Yuan, D Gomez, P Calsou - DNA repair, 2014 - Elsevier
To cope with DNA double strand break (DSB) genotoxicity, cells have evolved two main
repair pathways: homologous recombination which uses homologous DNA sequences as …

Genetics of familial melanoma: 20 years after CDKN2A

LG Aoude, KAW Wadt, AL Pritchard… - Pigment cell & …, 2015 - Wiley Online Library
Twenty years ago, the first familial melanoma susceptibility gene, CDKN 2A, was identified.
Two years later, another high‐penetrance gene, CDK 4, was found to be responsible for …

Human CST promotes telomere duplex replication and general replication restart after fork stalling

JA Stewart, F Wang, MF Chaiken, C Kasbek… - The EMBO …, 2012 - embopress.org
Mammalian CST (CTC1‐STN1‐TEN1) associates with telomeres and depletion of CTC1 or
STN1 causes telomere defects. However, the function of mammalian CST remains poorly …

In vivo stoichiometry of shelterin components

KK Takai, S Hooper, S Blackwood, R Gandhi… - Journal of biological …, 2010 - ASBMB
Human telomeres bind shelterin, the six-subunit protein complex that protects chromosome
ends from the DNA damage response and regulates telomere length maintenance by …

The telosome/shelterin complex and its functions

H Xin, D Liu, Z Songyang - Genome biology, 2008 - Springer
The telomeres that cap the ends of eukaryotic chromosomes serve a dual role in protecting
the chromosome ends and in intracellular signaling for regulating cell proliferation. A …

InTERTpreting telomerase structure and function

HDM Wyatt, SC West, TL Beattie - Nucleic acids research, 2010 - academic.oup.com
Abstract The Nobel Prize in Physiology or Medicine was recently awarded to Elizabeth
Blackburn, Carol Greider and Jack Szostak for their pioneering studies on chromosome …

Telomere DNA G-quadruplex folding within actively extending human telomerase

LI Jansson, J Hentschel, JW Parks… - Proceedings of the …, 2019 - National Acad Sciences
Telomerase reverse transcribes short guanine (G)-rich DNA repeat sequences from its
internal RNA template to maintain telomere length. G-rich telomere DNA repeats readily fold …

Structures of telomerase at several steps of telomere repeat synthesis

Y He, Y Wang, B Liu, C Helmling, L Sušac, R Cheng… - Nature, 2021 - nature.com
Telomerase is unique among the reverse transcriptases in containing a noncoding RNA
(known as telomerase RNA (TER)) that includes a short template that is used for the …

Dysfunctional telomeres activate an ATM‐ATR‐dependent DNA damage response to suppress tumorigenesis

X Guo, Y Deng, Y Lin, W Cosme‐Blanco, S Chan… - The EMBO …, 2007 - embopress.org
The POT1 (protection of telomeres) protein binds the single‐stranded G‐rich overhang and
is essential for both telomere end protection and telomere length regulation. Telomeric …

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

HE Speedy, B Kinnersley, D Chubb… - Blood, The Journal …, 2016 - ashpublications.org
Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line
disruptive alleles for CLL have been identified. We performed whole-exome sequencing of …