Cystinosis and two rare mutations in CTNS gene: two case reports [PDF]
Journal of Medical Case Reports, 2022 Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi +2 more
doaj +8 more sources
Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations) [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain.
Ana A. Francisco +4 more
doaj +8 more sources
Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis [PDF]
BMC Genomic DataBackground Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter.
Leila Adda Neggaz +4 more
doaj +6 more sources
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Nefrología (English Edition), 2015 Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat +5 more
doaj +9 more sources
Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene [PDF]
Genetics and Molecular Biology, 2013 Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus.
Darine Villela +9 more
doaj +7 more sources
Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis,
BMC Genomics, 2000 Background Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten.
Poras Isabelle +4 more
doaj +8 more sources
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations). [PDF]
Orphanet J Rare Dis, 2023 Horsthuis DJ +3 more
europepmc +3 more sources
Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder [PDF]
Journal of Cachexia, Sarcopenia and MuscleBackground The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Wai W. Cheung +5 more
doaj +2 more sources
Cystinosis induced by CTNS gene mutation: a rare disease study. [PDF]
Zhongguo Dang Dai Er Ke Za Zhi, 2021 Wang X, Zhang BL, Chen XY, Guo Z.
europepmc +3 more sources
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model [PDF]
CellsCystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes.
Louise Medaer +5 more
doaj +2 more sources