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Validating a clinically based MS-MLPA threshold through comparison with Sanger sequencing in glioblastoma patients.
Clin Epigenetics
January 2025
Center of Oncocytogenomics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and 1st Faculty of Medicine of Charles University in Prague, U Nemocnice 499/2, 128 00, Prague, Czech Republic.
Background: Glioblastoma is the commonest malignant brain tumor and has a very poor prognosis. Reduced expression of the MGMT gene (10q26.3), influenced primarily by the methylation of two differentially methylated regions (DMR1 and DMR2), is associated with a good response to temozolomide treatment.
View Article and Find Full Text PDFUnderstanding retinal tau pathology through functional 2D and 3D iPSC-derived in vitro retinal models.
Acta Neuropathol Commun
January 2025
Department of Physiology and Pharmacology, Sapienza University of Rome, 00185, Rome, Italy.
The generation of retinal models from human induced pluripotent stem cells holds significant potential for advancing our understanding of retinal development, neurodegeneration, and the in vitro modeling of neurodegenerative disorders. The retina, as an accessible part of the central nervous system, offers a unique window into these processes, making it invaluable for both study and early diagnosis. This study investigates the impact of the Frontotemporal Dementia-linked IVS 10 + 16 MAPT mutation on retinal development and function using 2D and 3D retinal models derived from human induced pluripotent stem cells.
View Article and Find Full Text PDFMolecular and cellular characteristics of cerebrovascular cell types and their contribution to neurodegenerative diseases.
Mol Neurodegener
January 2025
The Picower Institute for Learning and Memory, Cambridge, MA, USA.
Many diseases and disorders of the nervous system suffer from a lack of adequate therapeutics to halt or slow disease progression, and to this day, no cure exists for any of the fatal neurodegenerative diseases. In part this is due to the incredible diversity of cell types that comprise the brain, knowledge gaps in understanding basic mechanisms of disease, as well as a lack of reliable strategies for delivering new therapeutic modalities to affected areas. With the advent of single cell genomics, it is now possible to interrogate the molecular characteristics of diverse cell populations and their alterations in diseased states.
View Article and Find Full Text PDFDiagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation.
World J Surg Oncol
January 2025
Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Yangpu District, Shanghai, 200092, China.
Objective: This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon.
Methods: Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells).
Therapeutic exercise protocol for the prevention of anterior cruciate ligament injuries in female soccer players with dynamic knee valgus (RCT).
Trials
January 2025
Physiotherapy Department, Department of Pathology and Surgery, Miguel Hernández University, San Juan de Alicante, Alicante, Spain.
Background: Women's football has experienced exponential growth over the last 10 years. Its popularity is associated with an increase in ACL injuries. They constitute a major current problem as they account for 43% of the injury burden during the sports season.
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