Results 11 to 20 of about 2,755 (211)
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis [PDF]
Scientific Reports, 2023 Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns −/− zebrafish ...
Tjessa Bondue +15 more
doaj +5 more sources
Mutational spectrum of the CTNS gene in Italy [PDF]
European Journal of Human Genetics, 2003 Classic nephropathic or infantile cystinosis (NC) is an autosomal recessive disorder; the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned. Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread ...
S. Mason +10 more
openaire +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 +4 more sources
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
The Scientific World Journal, 2015 Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders.
Yong-jia Yang +10 more
doaj +2 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
Current Issues in Molecular Biology, 2022 Cardiac troponins (cTns) have long been the most valuable and specific biomarkers for detecting ischemic myocardial cells (MCs) injury, which is one of the key signs of myocardial infarction (MI).
Aleksey Michailovich Chaulin
doaj +2 more sources
CTNS Mutations in an American-Based Population of Cystinosis Patients [PDF]
The American Journal of Human Genetics, 1998 Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by renal failure at 10 years of age and other systemic complications. The gene for cystinosis, CTNS, has 12 exons. Its 2.6-kb mRNA codes for a 367-amino-acid putative cystine transporter with seven transmembrane domains.
Shotelersuk, Vorasuk +8 more
openaire +3 more sources
BMC Nephrology, 2019 Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh +7 more
doaj +2 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 +2 more sources
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Eurasian Journal of Medicine, 2019 Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray +4 more
doaj +4 more sources