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The role of canopy family proteins: biological mechanism and disease function.
Mol Biol Rep
January 2025
Department of Gastroenterology, Beijing Friendship Hospital, Capital Medical University, No. 95, Yong An Road, Xi Cheng District, Beijing, 100050, China.
Canopy family proteins are highly sequence-conserved proteins with an N-terminal hydrophobic signal sequence, a unique pattern of six cysteine residues characteristic of the saposin-like proteins, and a C-terminal putative endoplasmic reticulum retention signal sequence. At present, the known canopy family proteins are canopy fibroblast growth factor signaling regulator 1 (CNPY1), CNPY2, CNPY3, and CNPY4. Despite similar structures, canopy family proteins regulate complex signal networks to participate in various biological processes.
View Article and Find Full Text PDFCase Report: ESR1::CITED2 Fusion in a Malignant Uterine Tumor Resembling Ovarian Sex Cord Tumor.
Int J Gynecol Pathol
January 2025
Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, California.
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare, typically benign uterine tumor occurring over a wide age range (mean 52.4 yr). UTROSCTs often harbor translocations between ESR1 and nuclear receptor coactivators NCOA1-NCOA3.
View Article and Find Full Text PDFAPOBEC-1 cofactors regulate APOBEC3-induced mutations in hepatitis B virus.
J Virol
January 2025
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Unlabelled: APOBEC3 proteins (A3s) play an important role in host innate immunity against viruses and DNA mutations in cancer. A3s-induced mutations in both viral and human DNA genomes vary significantly from non-lethal mutations in viruses to localized hypermutations, such as kataegis in cancer. How A3s are regulated remains largely unknown.
View Article and Find Full Text PDFA neuropathology case report of a woman with Down syndrome who remained cognitively stable: Implications for resilience to neuropathology.
Alzheimers Dement
January 2025
University of California Irvine, Irvine, California, USA.
Introduction: Aging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40.
Methods: We present findings from an individual with DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition.
[Development of prognostic clinical and genetic models of the risk of low bone mineral density using neural network training].
Probl Endokrinol (Mosk)
January 2024
Background: Osteoporosis is a common age-related disease with disabling consequences, the early diagnosis of which is difficult due to its long and hidden course, which often leads to diagnosis only after a fracture. In this regard, great expectations are placed on advanced developments in machine learning technologies aimed at predicting osteoporosis at an early stage of development, including the use of large data sets containing information on genetic and clinical predictors of the disease. Nevertheless, the inclusion of DNA markers in prediction models is fraught with a number of difficulties due to the complex polygenic and heterogeneous nature of the disease.
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