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Long-term outcomes in nephropathic cystinosis: a review. [PDF]
Pediatr NephrolChang HE +5 more
europepmc +1 more source
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 ...
Guglielmina Pepe +2 more
exaly +6 more sources
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 ...
Anna Pastore +2 more
exaly +3 more sources
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis [PDF]
Human Mutation, 2002 The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin.
Andrea Superti-Furga
exaly +3 more sources
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin [PDF]
Human Molecular Genetics, 1999 Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal tubular dysfunction. Late-onset cystinosis, a rarer form of the disorder, is characterized by onset of symptoms between 12 and 15 years of age.
Corinne Antignac +2 more
exaly +3 more sources
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Modulation of CTNS gene expression by intracellular thiols
Free Radical Biology and Medicine, 2010The cysteine/cystine (Cys/CySS) couple represents one of the major cell thiol/disulfide systems and is involved in the regulation of several metabolic pathways and the cell redox state. Nephropathic cystinosis (NC) is an autosomal recessive disease characterized by renal cellular dysfunction due to mutations in the CTNS gene, which encodes cystinosin ...
Anna Pastore, Francesco Bellomo
exaly +3 more sources
Functional analysis of the
Abstract Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that exonic variants in many diseases can affect pre‐mRNA splicing. The impact of CTNS gene exonic variants on splicing regulation may be underestimated due to the lack of routine studies at the RNA level ...
Changying Li +11 more
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Dynamical analysis of mCAT2 gene models with CTN-RNA nuclear retention
Physical Biology, 2015As an experimentally well-studied nuclear-retained RNA, CTN-RNA plays a significant role in many aspects of mouse cationic amino acid transporter 2 (mCAT2) gene expression, but relevant dynamical mechanisms have not been completely clarified. Here we first show that CTN-RNA nuclear retention can not only reduce pre-mCAT2 RNA noise but also mediate its ...
Qianliang, Wang, Tianshou, Zhou
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Cystinosis induced by CTNS gene mutation: a rare disease study.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2021A boy, aged 1 year and 6 months, was found to have persistent positive urine glucose at the age of 4 months, with polydipsia, polyuria, and growth retardation. Laboratory examinations suggested that the boy had low specific weight urine, anemia, hypokalemia, hyponatremia, hypomagnesemia, metabolic acidosis, glycosuria, acidaminuria, increased ...
Xin, Wang +3 more
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Molecular Genetics and Metabolism, 1999
The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion thought to have originated in Germany. Although homozygotes for this deletion are detectable by the absence of the D17S829 polymorphic marker, no method exists to identify heterozygotes.
Y, Anikster +7 more
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The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion thought to have originated in Germany. Although homozygotes for this deletion are detectable by the absence of the D17S829 polymorphic marker, no method exists to identify heterozygotes.
Y, Anikster +7 more
openaire +2 more sources