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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFRisk factors associated with the failure of local methotrexate combined with minimally invasive surgery for late cesarean scar pregnancy.
BMC Pregnancy Childbirth
January 2025
Department of Gynecology, Shenyang Women's and Children's Hospital, No. 87 Renao Road, Shenyang, Liaoning Province, 110011, China.
Background: This study aimed to investigate the risk factors related to the failure of initial combined local methotrexate (MTX) treatment and minimally invasive surgery for late cesarean scar pregnancy (CSP).
Methods: This retrospective case-control study was conducted between January 2016 and December 2023, involving patients with late CSP (≥ 8 weeks) who received local MTX injection combined with either hysteroscopic or laparoscopic surgery. Cesarean scar pregnancy was classified as type I, II, or III based on the direction of growth of the gestational sac and the residual myometrial thickness as assessed by ultrasound.
A synthetic cyclic peptide for promoting antigen presentation and immune activation.
NPJ Vaccines
January 2025
School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.
Cyclic peptides are often used as scaffolds for the multivalent presentation of drug molecules due to their structural stability and constrained conformation. We identified a cyclic deca-peptide incorporating lipoamino acids for delivering T helper and B cell epitopes against group A Streptococcus (GAS), eliciting robust humoral immune responses. In this study, we assessed the function-immunogenicity relationship of the multi-component vaccine candidate (referred to as VC-13) to elucidate a mechanism of action.
View Article and Find Full Text PDFCatalytic-independent functions of the Integrator-PP2A complex (INTAC) confer sensitivity to BET inhibition.
Nat Chem Biol
January 2025
Fudan University Shanghai Cancer Center, Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Shanghai Key Laboratory of Medical Epigenetics, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
Chromatin and transcription regulators are critical to defining cell identity through shaping epigenetic and transcriptional landscapes, with their misregulation being closely linked to oncogenesis. Pharmacologically targeting these regulators, particularly the transcription-activating BET proteins, has emerged as a promising approach in cancer therapy, yet intrinsic or acquired resistance frequently occurs, with poorly understood mechanisms. Here, using genome-wide CRISPR screens, we find that BET inhibitor efficacy in mediating transcriptional silencing and growth inhibition depends on the auxiliary/arm/tail module of the Integrator-PP2A complex (INTAC), a global regulator of RNA polymerase II pause-release dynamics.
View Article and Find Full Text PDFDNA barcoding of invasive Gambusia holbrooki Girard, 1859 and Atherina boyeri Risso, 1810 inhabiting Upper Euphrates River Basin, Türkiye.
Sci Rep
January 2025
Evolutionary Genetics Laboratory (eGL), Department of Fisheries and Aquaculture, Agricultural Faculty, Ankara University, Ankara, Turkey.
The main contributor to Türkiye's abundant freshwater fish biodiversity is its geographic location. This fauna consists of endemic, native, and non-native fish species. The introduction of Gambusia holbrooki Girard, 1859 to Lake Amik in the 1920s for the biological control of malaria was the first introduction of nonnative species to Türkiye.
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