Results 121 to 130 of about 1,581 (148)

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis. [PDF]

J Am Soc Nephrol
Bellomo F, Pugliese S, Cairoli S, Krohn P, De Stefanis C, Raso R, Rega LR, Rega LR, Taranta A, De Leo E, Ciolfi A, Cicolani N, Petrini S, Luciani A, Goffredo BM, Porzio O, Devuyst O, Dionisi-Vici C, Emma F.   +18 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, Roberto Dall'Amico, Luisa Murer   +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 Taranta, Francesco Bellomo, 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.
Michael Kiehntopf, Hans Georg Koch, Andrea Superti-Furga   +2 more
exaly   +3 more sources

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Modulation of CTNS gene expression by intracellular thiols

Free Radical Biology and Medicine, 2010
The 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 ...
Francesco Bellomo, Anna Pastore, Francesco Emma   +2 more
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.
G Jean, Stephanie Cherqui, William Van'T Hoff   +2 more
exaly   +3 more sources

Functional analysis of the CTNS gene exonic variants predicted to affect splicing

Clinical Genetics, 2023
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, Ruixiao Zhang, Fengjiao Pan, Qing Xin, Xiaomeng Shi, Wencong Guo, Dan Qiao, Zhi Wang, Yiyin Zhang, Xuyan Liu, Yan Zhang, Leping Shao   +11 more
openaire   +2 more sources

Dynamical analysis of mCAT2 gene models with CTN-RNA nuclear retention

Physical Biology, 2015
As 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
openaire   +2 more sources

Cystinosis induced by CTNS gene mutation: a rare disease study.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2021
A 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, Bi-Li, Zhang, Xiao-Ying, Chen, Zhen, Guo   +3 more
openaire   +1 more source

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region [PDF]

American Journal of Human Genetics, 2001
Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter constructs of sequences 5' to the CTNS coding sequence, we identified the CTNS promoter as the region encompassing nucleotides -316 to +1 with respect to ...
Yair Anikster, Marjan Huizing, Chaya Brodie   +2 more
exaly   +3 more sources