Results 41 to 50 of about 9,680 (207)

Metabolic Advantage of 25(OH)D₃ versus 1,25(OH)₂D₃ Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting

Cells, 2022
Manifestations of infantile nephropathic cystinosis (INC) often include cachexia and deficiency of circulating vitamin D metabolites. We examined the impact of 25(OH)D3 versus 1,25(OH)2D3 repletion in Ctns null mice, a mouse model of INC.
Ping Zhou, Wai W. Cheung, Alex Gonzalez, Venya Vaddi, Eduardo A. Oliveira, Robert H. Mak   +5 more
doaj   +1 more source

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns

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, Forestier Lionel, Kalatzis Vasiliki, Cherqui Stéphanie, Antignac Corinne   +4 more
doaj   +1 more source

Structural basis for proton coupled cystine transport by cystinosin

Nature Communications, 2022
Mutations in CTNS, the lysosomal cystine-proton symporter, cause cystinosis. Here authors report crystal structures of CTNS from Arabidopsis thaliana in complex with cystine, and establish the mode of ligand recognition and mechanism for proton-coupled ...
Mark Löbel, Sacha P. Salphati, Kamel El Omari, Armin Wagner, Stephen J. Tucker, Joanne L. Parker, Simon Newstead   +6 more
doaj   +1 more source

CTN

TRAVESSIA - revista do migrante, 1999
Para início de conversa, o relato a seguir são impressões acerca do Centro de Tradições NordestinasCTN, resultantes de uma série de visitas realizadas durante o mês de março de 1999. Três pesquisadoras (Dulce, Soraia e Mira) envolvidas em suas respectivas teses que abordam a migração, tendo em comum também a origem nordestina, partiram para uma espécie
Mirandulina Maria Moreira Azevedo, Dulce Maria Tourinho Baptista, Maria do Socorro Carlos Vidal   +2 more
openaire   +2 more sources

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

Horizontal collaboration in the freight transport sector: barrier and decision-making frameworks

European Transport Research Review, 2021
In the freight transport sector, competing companies horizontally collaborate through establishing Collaborative Transport Networks (CTNs). Fruitful implementation of CTNs will leverage environmental and socio-economic goals of sustainable development in
Ahmed Karam, Kristian Hegner Reinau, Christian Richter Østergaard   +2 more
doaj   +1 more source

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

Nephron, 2018
Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease. More than 140 CTNS mutations have been reported worldwide.
D. David, Sante Princiero Berlingerio, M. A. Elmonem, F. Oliveira Arcolino, Neveen A. Soliman, B. van den Heuvel, R. Gijsbers, E. Levtchenko   +7 more
semanticscholar   +1 more source

Genetic Landscape of Nephropathic Cystinosis in Russian Children

Frontiers in Genetics, 2022
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene.
K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin   +12 more
doaj   +1 more source

A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats

Mammalian Genome, 2018
The Long-Evans Agouti (LEA/Tohm) rat has recently been established as a new rat model of type 2 diabetes. The onset of diabetes mellitus was observed only in male LEA/Tohm rats; however, urinary glucose appeared before the onset of diabetes.
Yukiko Shimizu, Rieko Yanobu‐Takanashi, Kenta Nakano, K. Hamase, Toshiaki Shimizu, T. Okamura   +5 more
semanticscholar   +1 more source

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations

Human Genome Variation, 2017
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin.
Forough Sadeghipour, M. Basiratnia, A. Derakhshan, M. Fardaei   +3 more
semanticscholar   +1 more source