Results 31 to 40 of about 2,225 (187)

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, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis   +5 more
doaj   +3 more sources

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

Cells, 2021
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine
Stephanie Cherqui
doaj   +1 more source

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

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

Cystinosis and two rare mutations in CTNS gene: two case reports

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, Fatemeh Sarlaki, Saeid Morovvati   +2 more
doaj   +1 more source