Results 31 to 40 of about 9,680 (207)
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
semanticscholar +6 more sources
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 +5 more
doaj +1 more source
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 +7 more
doaj +1 more source
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis
Human Mutation, 2002 Andrea Superti-Furga
exaly +2 more sources
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 +4 more
doaj +1 more source
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 +3 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 +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 +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