Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source
Mapping fMRI research in disorders of consciousness: a bibliometric study. [PDF]
Wang XC +8 more
europepmc +1 more source
Many patients with urothelial cancer do not benefit from treatment with pembrolizumab, while at risk of severe side effects. Changes in the levels of circulating tumor DNA early during treatment, measured by a simple and affordable assay that can be easily implemented in the clinic, can be used as a prognostic tool to identify these patients.
Youssra Salhi +14 more
wiley +1 more source
Efficacy of a virtual multimodal exercise program on postural awareness and digital eye strain in university students: a pilot study. [PDF]
Aracı A, Mutlu HN, Akgün S, Kurt A.
europepmc +1 more source
MITF maintains genome stability in nonmelanocyte lineages
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir +13 more
wiley +1 more source
Decoding basal ganglia motor circuit dysfunction from handwriting: a physics-informed neural signal interpretation framework for Parkinson's disease screening. [PDF]
Batri K +6 more
europepmc +1 more source
NQQR: scalable qutrit image representation. [PDF]
Rofail M, Montaser R, Younes A.
europepmc +1 more source
Virtual Mice, Real Errors: A Sensor-Aware Generative Framework for In Silico Ethology. [PDF]
Sayfoori R, Vaisi G, Cao H.
europepmc +1 more source
Fixed-point topology meets fractal memory: a Kutumba-stabilized framework for nonlocal fractal-fractional dynamics. [PDF]
Devi RA +6 more
europepmc +1 more source
Entropy production bounds for systems running computer programs. [PDF]
Yadav A, Caravelli F, Wolpert D.
europepmc +1 more source

