This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu+12 more
wiley +1 more source
Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3. [PDF]
Mei L+11 more
europepmc +1 more source
Landscape of BRAF transcript variants in human cancer
We investigate the annotation of BRAF variants, focusing on protein‐coding BRAF‐220 (formerly BRAF‐reference) and BRAF‐204 (BRAF‐X1). The IsoWorm pipeline allows us to quantify these variants in human cancer, starting from RNA‐sequencing data. BRAF‐204 is more abundant than BRAF‐220 and impacts patient survival.
Maurizio S. Podda+5 more
wiley +1 more source
Differences in catch-up growth and its relationship to nutritional status between SGA and AGA twins and singletons in the first year after birth: a prospective cohort study. [PDF]
Xiong M+8 more
europepmc +1 more source
Longitudinal concordance for clinical characteristics in a Swedish-Danish twin population with inflammatory bowel disease [PDF]
Jonas Halfvarson+6 more
openalex +1 more source
Loss of proton‐sensing GPR4 reduces tumor progression in mouse models of colon cancer
G protein‐coupled receptor 4 (GPR4) is a pH‐sensing receptor activated by acidic pH. GPR4 expression is increased in patients with inflammatory bowel disease who are at high risk of developing colorectal cancer. In mouse models, loss of GPR4 attenuated tumor progression. This correlated with increased IL2 and natural killer cell activity.
Leonie Perren+16 more
wiley +1 more source
Twins with at least one with CHD and their immunisation status in direct comparison-are both twins complying with the German immunisation recommendations? [PDF]
Remmele J+5 more
europepmc +1 more source
Manifest disease and motor cortex reactivity in twins discordant for schizophrenia [PDF]
Martin Schürmann+6 more
openalex +1 more source
TRPM8 levels determine tumor vulnerability to channel agonists
TRPM8 is a Ca2+ permissive channel. Regardless of the amount of its transcript, high levels of TRPM8 protein mark different tumors, including prostate, breast, colorectal, and lung carcinomas. Targeting TRPM8 with channel agonists stimulates inward calcium currents followed by emptying of cytosolic Ca2+ stores in cancer cells.
Alessandro Alaimo+18 more
wiley +1 more source