Results 21 to 30 of about 2,755 (211)

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants

Advanced Biomedical Research
Background: Nephropathic cystinosis (NC) is an uncommon autosomal recessive disease with abnormality in lysosomal storage that appearances in patients with mutations in the CTNS gene encoding a lysosomal transporter cystinosin. Disrupted function of this
Zahra Mohammadi Chermahini, Mansoor Salehi, Alaleh Gheissari, Faeze Ahmadi Beni, Farinaz Khosravian, Mohammad Kazemi   +5 more
doaj   +3 more sources

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

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, Lilian Kimura, David Schlesinger, Amanda Gonçalves, Peter L. Pearson, Claudia K. Suemoto, Carlos Pasqualucci, Ana Cristina Krepischi, Lea T. Grinbergand, Carla Rosenberg   +9 more
doaj   +2 more sources

A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia

Cells, 2021
Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez, Wai W. Cheung, Elliot A. Perens, Eduardo A. Oliveira, Arieh Gertler, Robert H. Mak   +5 more
doaj   +1 more source

Activities critical to success and growth of clinical trials networks. What is needed and how are we doing? An Australian and New Zealand perspective

Trials, 2023
Background Clinical trial evidence underpins evidence-based medicine and the improvement of healthcare worldwide. In Australasia, a significant proportion of clinical trials are conducted by geographically dispersed and multidisciplinary clinical ...
Megan Sanders, Karen Goulding, Ed Oakley, Donna Reidlinger, Katie M Groom   +4 more
doaj   +1 more source

Myocardial Injury Predicts Risk of Short-Term All-Cause Mortality in Patients With COVID-19: A Dose–Response Meta-Analysis

Frontiers in Cardiovascular Medicine, 2022
ObjectivePredictive value of myocardial injury as defined by elevated cardiac tropnins (cTns) in patients with COVID-19 has not been fully investigated. We performed a meta-analysis to evaluate the dose–response relationship between myocardial injury and
Yuehua Li, Hanjun Pei, Chenghui Zhou, Ying Lou   +3 more
doaj   +1 more source

Targeting interleukin‐1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis

Journal of Cachexia, Sarcopenia and Muscle, 2021
Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting.
Wai W. Cheung, Sheng Hao, Ronghao Zheng, Zhen Wang, Alex Gonzalez, Ping Zhou, Hal M. Hoffman, Robert H. Mak   +7 more
doaj   +1 more source

Transcriptional and Posttranscriptional Regulation of the CTNS Gene [PDF]

Pediatric Research, 2011
Cell cysteine (Cys) levels and/or the [Cys/CySS] redox potential have been shown to regulate mRNA levels of the CTNS gene, which encodes for a lysosomal cystine (CySS) carrier that is defective in cystinosis. To investigate the mechanisms involved CTNS mRNA regulation, different portions of the CTNS promotor were cloned into a luciferase vector and ...
Corallini, Serena, Taranta, Anna, Bellomo, Francesco, Palma, Alessia, Pastore, Anna, Emma, Francesco   +5 more
openaire   +2 more sources

Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. [PDF]

PLoS ONE, 2012
Cystinosis is a rare disease caused by homozygous mutations of the CTNS gene, encoding a cystine efflux channel in the lysosomal membrane. In Ctns knockout mice, the pathologic intralysosomal accumulation of cystine that drives progressive organ damage ...
Diana M Iglesias, Reyhan El-Kares, Anna Taranta, Francesco Bellomo, Francesco Emma, Martine Besouw, Elena Levtchenko, Jaan Toelen, Lambertus van den Heuvel, Leelee Chu, Jing Zhao, Yoon Kow Young, Nicoletta Eliopoulos, Paul Goodyer   +13 more
doaj   +1 more source

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