A highly annotated database of genes associated with platinum resistance in cancer

D Huang, SR Savage, AP Calinawan, C Lin, B Zhang… - Oncogene, 2021 - nature.com
Platinum-based chemotherapy, including cisplatin, carboplatin, and oxaliplatin, is prescribed
to 10-20% of all cancer patients. Unfortunately, platinum resistance develops in a significant …

Meiosis interrupted: the genetics of female infertility via meiotic failure

L Biswas, K Tyc, W El Yakoubi, K Morgan… - …, 2021 - rep.bioscientifica.com
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …

A genetic map of the response to DNA damage in human cells

M Olivieri, T Cho, A Álvarez-Quilón, K Li… - Cell, 2020 - cell.com
The response to DNA damage is critical for cellular homeostasis, tumor suppression,
immunity, and gametogenesis. In order to provide an unbiased and global view of the DNA …

Genetic links between ovarian ageing, cancer risk and de novo mutation rates

S Stankovic, S Shekari, QQ Huang, EJ Gardner… - Nature, 2024 - nature.com
Human genetic studies of common variants have provided substantial insight into the
biological mechanisms that govern ovarian ageing. Here we report analyses of rare protein …

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

A Heddar, C Ogur, S Da Costa, I Braham… - …, 2022 - thelancet.com
Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders

N Karadag, AA Shadrin, KS O'Connell, GFL Hindley… - Brain, 2023 - academic.oup.com
Psychiatric disorders and common epilepsies are heritable disorders with a high comorbidity
and overlapping symptoms. However, the causative mechanisms underlying this …

Drug mechanism‐of‐action discovery through the integration of pharmacological and CRISPR screens

E Gonçalves, A Segura‐Cabrera, C Pacini… - Molecular Systems …, 2020 - embopress.org
Low success rates during drug development are due, in part, to the difficulty of defining drug
mechanism‐of‐action and molecular markers of therapeutic activity. Here, we integrated …

SMARCAL1 is a dual regulator of innate immune signaling and PD-L1 expression that promotes tumor immune evasion

G Leuzzi, A Vasciaveo, A Taglialatela, X Chen… - Cell, 2024 - cell.com
Genomic instability can trigger cancer-intrinsic innate immune responses that promote tumor
rejection. However, cancer cells often evade these responses by overexpressing immune …

FIGNL1-FIRRM is essential for meiotic recombination and prevents DNA damage-independent RAD51 and DMC1 loading

A Zainu, P Dupaigne, S Bouchouika, J Cau… - Nature …, 2024 - nature.com
During meiosis, nucleoprotein filaments of the strand exchange proteins RAD51 and DMC1
are crucial for repairing SPO11-generated DNA double-strand breaks (DSBs) by …

Helicase Q promotes homology-driven DNA double-strand break repair and prevents tandem duplications

JA Kamp, B Lemmens, RJ Romeijn… - Nature …, 2021 - nature.com
DNA double-strand breaks are a major threat to cellular survival and genetic integrity. In
addition to high fidelity repair, three intrinsically mutagenic DNA break repair routes have …