Results 11 to 20 of about 1,581 (148)

Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]

Pediatric Nephrology, 2010
Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals.
Anna Taranta, Martijn J Wilmer, L P Van den Heuvel   +2 more
exaly   +8 more sources

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

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   +6 more sources

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

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   +5 more sources

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations). [PDF]

Orphanet J Rare Dis, 2021
Abstract Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life ...
Francisco AA, Berruti AS, Kaskel FJ, Foxe JJ, Molholm S.   +4 more
europepmc   +6 more sources

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations). [PDF]

Orphanet J Rare Dis, 2023
Abstract Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic ...
Horsthuis DJ, Molholm S, Foxe JJ, Francisco AA.   +3 more
europepmc   +5 more sources

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. [PDF]

JIMD Rep, 2014
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney.
Soliman NA, Elmonem MA, van den Heuvel L, Abdel Hamid RH, Gamal M, Bongaers I, Marie S, Levtchenko E.   +7 more
europepmc   +6 more sources

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

Mamm Genome, 2019
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. To clarify the genetic basis of urinary glucose, we performed genetic linkage analysis using (BN × LEA) F2 ...
Shimizu Y, Yanobu-Takanashi R, Nakano K, Hamase K, Shimizu T, Okamura T.   +5 more
europepmc   +4 more sources

A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm. [PDF]

Front Nephrol
Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating deeper ...
Molholm S, Francisco AA, Horsthuis DJ, Lecaj T, Cregin D, Brittenham C, Foxe JJ.   +6 more
europepmc   +3 more sources

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

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

Scientific Reports, 2023
Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns −/− zebrafish ...
Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino-Garví, Maximilian Schindler, Hans Jacobus Baelde, Sara Cairoli, Bianca Maria Goffredo, Fanny Oliveira Arcolino, Jürgen Dieker, Manoe Jacoba Janssen, Nicole Endlich, Roland Brock, Rik Gijsbers, Lambertus van den Heuvel, Elena Levtchenko   +15 more
doaj   +1 more source