Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene located on the short arm of chromosome 17 [1,2]. The CTNS gene encodes a lysosomal cystine transporter protein, cystinosin, which helps facilitate the efflux of cystine from lysosomes. The accumulation of the disulfide amino acid cystine within cellular lysosomes leads to the formation of cystine crystals in ...

Carbon nanotubes (CNTs) with hollow nanochannels have attracted much attention in preparing high-performance water treatment membranes. In this paper, the grafting polymer chains, including alkynyl terminated poly(methyl methacrylate) methacrylate (PMMA) single chain and PMMA-b-poly (ethylene glycol) [P(PEGMA)] diblock molecular were synthesized by reversible addition-fragmentation transfer (RA...

Follicular lymphoma (FL) is one of the most frequent subtypes non-Hodgkin lymphomas. This research predicted prognosis 184 untreated follicular patients (LLMPP GSE16131 series), using gene expression data and artificial intelligence (AI) neural networks. A new strategy based on random number generation was used to create 120 different independent multilayer perceptron (MLP) solutions, 22,215 pr...

Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It caused by mutations in the CTNS gene that encodes cystine transporter, cystinosin, which leads to accumulation. major cause of inherited Fanconi syndrome, should be suspected young children failure thrive signs renal proximal tubular damage. The diagnosis can missed infants, beca...

BACKGROUND Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney. In this study, we aimed to provide the first report describing the mutational spectrum of Egypti...