Results 121 to 130 of about 1,567 (165)

Ocular Involvement in Infantile Cystinosis: A Case Report. [PDF]

Cureus
Razzak A, Ait Ammar H, Bouazza M, Elbelhadji M.   +3 more
europepmc   +1 more source

Identification of anoikis-related biomarkers linking immune infiltration to acute myocardial infarction. [PDF]

Braz J Med Biol Res
Zhao Y, Wang S, Ji H, Han L, Wang S, Yin X, Zhao Q.   +6 more
europepmc   +1 more source

Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients. [PDF]

Sci Rep
Rezaei K, Shahraki K, Chen L, Yassin SH, Lee OL, Shahraki K, Suh DW.   +6 more
europepmc   +1 more source

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

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

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, Serena Corallini, Anna Pastore, Alessia Palma, Chiara Laurenzi, Francesco Emma, Anna Taranta   +6 more
openalex   +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, Jörg Schickel, Bärbel von der Gönne, Hans Georg Koch, Andrea Superti‐Furga, Beat Steinmann, Thomas Deufel, Erik Harms   +7 more
openalex   +3 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
openalex   +3 more sources