GPNMB expression differentiates subependymal giant cell astrocytoma from other mimickers.

Subependymal giant cell astrocytomas (SEGAs) are neoplasms that exhibit slow growth patterns and are closely associated with tuberous sclerosis complex (TSC). Recent research indicates that TFE3/TFEB-targeted biomarker glycoprotein nonmetastatic B (GPNMB) is upregulated inTSC1/2-related tumours. In this study, we performed molecular analysis on SEGAs and analyzed GPNMB expression in 6 SEGAs, 10 PXAs, 9 GBMs, 8 eGBMs, 8 diffuse astrocytomas, 8 oligodendrogliomas and 7 glioneuronal tumours through immunohistochemistry, 100 % (6/6) of the SEGA cases exhibited positive GPNMB expression, whereas it was negative in all other CNS tumours.

PIDGN: An explainable multimodal deep learning framework for early prediction of Parkinson's disease.

Background: Parkinson's disease (PD), the second most common neurodegenerative disease in the world, is usually not diagnosed until the later stages of the disease, when patients might have already missed the best treatment period. Therefore, more effective prediction methods based on artificial intelligence (AI) are needed to assist physicians in timely diagnosis.

New Methods: An explainable deep learning-based early Parkinson's disease diagnostic model, Parkinson's Integrative Diagnostic Gated Network (PIDGN), was designed by fusing Single Nucleotide Polymorphism (SNP) and brain sMRI data.

U2AF1 mutation causes an oxidative stress and DNA repair defect in hematopoietic and leukemic cells.

U2AF1 is a core component of spliceosome and controls cell-fate specific alternative splicing. U2AF1 mutations have been frequently identified in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) patients, and mutations in U2AF1 are associated with poor prognosis in hematopoietic malignant diseases. Here, by forced expression of mutant U2AF1 (U2AF1 S34F) in hematopoietic and leukemic cell lines, we find that U2AF1 S34F causes increased reactive oxygen species (ROS) production.

Molecular basis for the assembly of the dynein transport machinery on microtubules.

Cytoplasmic dynein-1, a microtubule-based motor protein, requires dynactin and an adaptor to form the processive dynein-dynactin-adaptor (DDA) complex. The role of microtubules in DDA assembly has been elusive. Here, we reveal detailed structural insights into microtubule-mediated DDA assembly using cryo-electron microscopy.

Multicenter study of ovarian cancer score for diagnosing ovarian cancer.

Background: Early detection is crucial for improving survival of patients with ovarian cancer (OC), yet current diagnostic tools lack adequate sensitivity and specificity, especially for early stage disease. The study aimed to validate the serum small extracellular vesicles (sEV) protein based Ovarian Cancer Score (OCS) in detecting OC.

Methods: This multicenter study included 1183 adult females with adnexal masses from four hospitals in China (October 2019-April 2023).