Background: The TMEM106B protein is critical for proper functioning of the endolysomal system, which is utilised by all cells to traffic and degrade molecular cargo. Genome-wide association studies identified a haplotype in the TMEM106B gene that is associated with increased risk for Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), and frontotemporal lobar degeneration with TAR DNA binding protein inclusions (FTLD-TDP). However, the causal variant that drives the association has thus far remained elusive.
View Article and Find Full Text PDFBackground: Genome-Wide Association Studies (GWAS) have identified 86 SNPs associated with Alzheimer's disease (AD). GWAS-SNPs are markers of genetic variation in linkage disequilibrium (LD), which may drive the association with AD. One major class of genetic variation are Structural Variants (SVs), which can regulate transcription and translation of nearby genes.
View Article and Find Full Text PDFBananas are Ecuador's second largest non-oil export product, and the quality of its fruit has established a strong presence in international markets. One-third of the world's banana exports originate from Ecuador. The Ecuadorian banana market is diversified, exporting fruit to various countries worldwide, making it a vital socio-economic and food security support for the country.
View Article and Find Full Text PDFIntroduction And Objectives: To evaluate the readiness of pediatric spina bifida (SB) patients to transition from pediatric to adult urologic care. Since 1975 the survival rate of SB has increased from less than 50 % to 85 %. Adult SB patients have increased urologic needs due to their increased risk of complications including: 7-11 times risk of renal failure, 2 times risk of bladder cancer, and 46 times risk likely of UTIs.
View Article and Find Full Text PDFCisplatin (CIS) is a potent chemotherapeutic agent primarily used to treat hematologic malignancies and solid tumors, including lymphomas, sarcomas, and some carcinomas. Patients receiving this treatment for tumors outside the nervous system develop cognitive impairment. Alterations in the kynurenine pathway (KP) following CIS treatment suggest that certain KP metabolites may cross the blood-brain barrier, leading to increased production of the neuromodulator kynurenic acid (KYNA), which is associated with cognitive impairment.
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