A highly annotated database of genes associated with platinum resistance in cancer
Platinum-based chemotherapy, including cisplatin, carboplatin, and oxaliplatin, is prescribed
to 10-20% of all cancer patients. Unfortunately, platinum resistance develops in a significant …
to 10-20% of all cancer patients. Unfortunately, platinum resistance develops in a significant …
Meiosis interrupted: the genetics of female infertility via meiotic failure
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
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 …
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
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 …
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 …
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
Psychiatric disorders and common epilepsies are heritable disorders with a high comorbidity
and overlapping symptoms. However, the causative mechanisms underlying this …
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 …
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
Genomic instability can trigger cancer-intrinsic innate immune responses that promote tumor
rejection. However, cancer cells often evade these responses by overexpressing immune …
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 …
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
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 …
addition to high fidelity repair, three intrinsically mutagenic DNA break repair routes have …