Cell cycle arrest through indirect transcriptional repression by p53: I have a DREAM

K Engeland - Cell Death & Differentiation, 2018 - nature.com
Activation of the p53 tumor suppressor can lead to cell cycle arrest. The key mechanism of
p53-mediated arrest is transcriptional downregulation of many cell cycle genes. In recent …

The Fanconi anemia pathway in cancer

J Niraj, A Färkkilä, AD D'Andrea - Annual review of cancer …, 2019 - annualreviews.org
Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure
(BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer …

Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair

JD Peake, E Noguchi - Human genetics, 2022 - Springer
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well
as a predisposition to malignancies including leukemia and squamous cell carcinoma …

Genotype-phenotype associations in Fanconi anemia: a literature review

MO Fiesco-Roa, N Giri, LJ McReynolds, AF Best… - Blood reviews, 2019 - Elsevier
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital
abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital …

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

K Knies, S Inano, MJ Ramírez, M Ishiai… - The Journal of …, 2017 - Am Soc Clin Investig
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of
DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 …

A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination

AT Wang, T Kim, JE Wagner, BA Conti, FP Lach… - Molecular cell, 2015 - cell.com
Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways,
including homologous recombination. Here, we report a de novo heterozygous T131P …

Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells

SM Siegner, L Ugalde, A Clemens… - Nature …, 2022 - nature.com
Fanconi Anemia (FA) is a debilitating genetic disorder with a wide range of severe
symptoms including bone marrow failure and predisposition to cancer. CRISPR-Cas …

Oral cavity squamous cell carcinoma risk factors: state of the art

L Nokovitch, C Maquet, F Crampon, I Taihi… - Journal of clinical …, 2023 - mdpi.com
Head and neck (HN) squamous cell carcinomas (SCCs) originate from the epithelial cells of
the mucosal linings of the upper aerodigestive tract, which includes the oral cavity, the …

PARP Inhibitors and Prostate Cancer: To Infinity and Beyond BRCA

EN Risdon, CH Chau, DK Price, O Sartor… - The oncologist, 2021 - academic.oup.com
Abstract The US Food and Drug Administration recently approved two poly‐adenosine
diphosphate‐ribose polymerase (PARP) inhibitors, olaparib and rucaparib, for treatment of …

Human genetic basis of interindividual variability in the course of infection

JL Casanova - Proceedings of the National Academy of …, 2015 - National Acad Sciences
The key problem in human infectious diseases was posed at the turn of the 20th century:
their pathogenesis. For almost any given virus, bacterium, fungus, or parasite, life …