Results 31 to 40 of about 2,523,567 (168)

Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns−/− mice are 25(OH)D3 and 1,25(OH)2D3 insufficient.
Wai W. Cheung, Sheng Hao, Zhen Wang, Wei Ding, Ronghao Zheng, Alex Gonzalez, Jian‐Ying Zhan, Ping Zhou, Shiping Li, Mary C. Esparza, Hal M. Hoffman, Richard L. Lieber, Robert H. Mak   +12 more
doaj   +1 more source

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

A case of ocular cystinosis associated with two potentially severe CTNS mutations

, 2019
\ua9 2019, \ua9 2019 Taylor & Francis Group, LLC. Background: Ocular cystinosis is a rare autosomal recessive disorder caused by one severe and one mild mutation in the CTNS gene.
Sayer JA, Browning AC, Baylis O, Figueiredo GS, Beesley C, Figueiredo FC, Montgomery E, Molinari E   +7 more
core   +4 more sources

Development of a fibrin-mediated gene delivery system for the treatment of cystinosis via design of experiment

Scientific Reports, 2022
Cystinosis is a rare disease, caused by a mutation in the gene cystinosin and characterised by the accumulation of cystine crystals. Advantages of biomaterial-mediated gene delivery include reduced safety concerns and the possibility to cure organs that ...
Valeria Graceffa
doaj   +1 more source

Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant

Frontiers in Pediatrics, 2022
ObjectiveTo report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population.MethodsRetrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis.ResultsA ...
Yu-Jia Guan, Yu-Jia Guan, Yu-Jia Guan, Yan-Nan Guo, Yan-Nan Guo, Wen-Tao Peng, Wen-Tao Peng, Wen-Tao Peng, Li-Li Liu, Li-Li Liu, Li-Li Liu   +10 more
doaj   +1 more source

Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS [PDF]

Pediatric Research, 1999
Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene ...
Yair Anikster, Cynthia Lucero, Jeffrey W Touchman, Marjan Huizing, Geraldine McDowel, Vorasuk Shotelersuk, Eric D Green, William A Gahl   +7 more
openaire   +1 more source

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis

Cells, 2021
Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure and progressive development of extra-renal ...
Anna Taranta, Mohamed A. Elmonem, Francesco Bellomo, Ester De Leo, Sara Boenzi, Manoe J. Janssen, Amer Jamalpoor, Sara Cairoli, Anna Pastore, Cristiano De Stefanis, Manuela Colucci, Laura R. Rega, Isabella Giovannoni, Paola Francalanci, Lambertus P. van den Heuvel, Carlo Dionisi-Vici, Bianca M. Goffredo, Rosalinde Masereeuw, Elena Levtchenko, Francesco Emma   +19 more
doaj   +1 more source

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction [PDF]

, 2017
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol.
Elena Levtchenko, Khodaparast, Ladan, de Witte, Peter, Tylzanowski, Przemko, Khodaparast, Laleh, Baelde, H.J., Anna Pastore, de Witte, Peter A, Peter A. de Witte, Lowe, Martin; id_orcid, Ladan Khodaparast, Pastore, Anna, Mohamed A. Elmonem, Annelii Ny, Ramzi Khalil, Fanny O. Arcolino, Tylzanowski, P., Morgan, J., Hans J. Baelde, Levtchenko, Elena, Witte, P.A. de, Arcolino, F.O., Lowe, Martin, Ny, A., Martin Lowe, Przemko Tylzanowski, van den Heuvel, Bert, Lowe, M., Levtchenko, E., Oliveira Arcolino, Fanny, Heuvel, L.P. van den, Laleh Khodaparast, Pastore, A., Arcolino, Fanny O, Khodaparast, L., Lambertus P. van den Heuvel, Khalil, R., Khalil, Ramzi, Ibrahim, Mohamed, Joseph Morgan, Morgan, Joseph, Elmonem, M.A., Baelde, Hans J, Khalil, R, Baelde, Hans J., Khodaparast, L, van den Heuvel, Lambertus P, Levtchenko, E.N., Ny, Annelii, Elmonem, Mohamed A   +49 more
core   +2 more sources

Pang Yuk Cheung: Effects of oral cysteamine treatment on Ctns knockout rats

, 2022
Cystinosis is a rare genetic disorder caused by mutations in the gene CTNS which mainly affects the kidneys. Without treatment, this results in renal failure early in life.
Pang Yuk Cheung (1210017)
core   +1 more source

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, Mohammed Aldahmesh, Gulsah Yilmaz, Emine Cinici, Zerrin Orbak   +4 more
doaj   +1 more source