Results 21 to 30 of about 2,523,567 (168)

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

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   +5 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

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

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

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

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. [PDF]

J Pediatr Genet, 2013
Classic nephropathic cystinosis (CNC) is an autosomal recessive and infrequent inborn metabolic disease that should be suspected in all children who show failure to thrive and renal Fanconi syndrome (RFS). Slit-lamp examination reveals pathognomonic corneal deposits of cystine crystals in virtually all affected individuals after 12-16 mo of age.
Alcántara-Ortigoza MA, Martínez-Bernal AB, Belmont-Martínez L, Vela-Amieva M, González-del Angel A.   +4 more
europepmc   +3 more sources

Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene

Medical Science and Discovery, 2022
Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (INC), the most severe form of the disease and the most common cause of renal Fanconi syndrome (FS), starts with ...
Vaia Dokousli, Liana Fidani, Despoina Tramma, Athanasios Evangeliou, Maria Ziaka   +4 more
openaire   +1 more source