نتایج جستجو برای: 191c
تعداد نتایج: 17 فیلتر نتایج به سال:
Abstract Background and Aims Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis hypomagnesemia. It caused homozygous recessive or compound heterozygous pathogenic variants in SLC12A3, which encodes the Na+-Cl− cotransporter (NCC). In up to 10% of patients with syndrome, current genetic techniques detect only one specific variant. This study aimed identify seco...
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurr...
Galectin-3, a chimeric type β-galactoside-binding protein, is known to modulate viral infection; however, its role in enterovirus 71 (EV71) infection has not been investigated. We generated galectin-3 null rhabdomyosarcoma (RD) cells and evaluated whether EV71 infection would be affected. In galectin-3 null cells, the released and intracellular EV71 viral loads were suppressed after 24 h of inf...
Articular cartilage repair is a continually evolving and often controversial area of sports medicine as the result of variable outcomes, contrasting opinions, and lack of a single reliable resurfacing option in this often complex heterogeneous patient population. Although many articular cartilage lesions are asymptomatic, others cause significant disability in patients who are not optimal candi...
PURPOSE The mechanism of sensitivity and resistance to epidermal growth factor receptor (EGFR) inhibitors is incompletely understood, particularly in cancers other than non-small-cell lung cancer (NSCLC). To understand the variable response to this class of drugs, we used the NCI60 cancer cell lines. We aimed to determine if there are interactions between EGFR expression, mutations, polymorphis...
In laboratory studies of fertilization using the gonochoric broadcast-spawning asterinid sea star Patiria miniata, we found many cases in which some mature eggs spawned by females formed cleavage-stage embryos and feeding bipinnaria larvae without fertilization by sperm. Segregation of maternal microsatellite alleles among the parthenogenetic offspring of known heterozygous females was consiste...
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