نتایج جستجو برای: ژن ctns
تعداد نتایج: 15923 فیلتر نتایج به سال:
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cysti...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we ha...
The project has progressed according to the original research plan with the most significant findings detailed in Aim 2 demonstrating the anti-fibrotic potential of cysteamine. Current efforts are focused on the investigating the effect of cysteamine on myofibroblasts, the primary cell producing extracellular matrix during kidney fibrosis. Furthermore, in our investigation of fibrogenic mechani...
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