Results 11 to 20 of about 1,485 (158)

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

Zhongguo Dang Dai Er Ke Za Zhi, 2021
Wang X, Zhang BL, Chen XY, Guo Z.
europepmc   +3 more sources

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

Mamm Genome, 2019
Shimizu Y, Yanobu-Takanashi R, Nakano K, Hamase K, Shimizu T, Okamura T.   +5 more
europepmc   +3 more sources

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants [PDF]

Advanced Biomedical Research
Background: Nephropathic cystinosis (NC) is an uncommon autosomal recessive disease with abnormality in lysosomal storage that appearances in patients with mutations in the CTNS gene encoding a lysosomal transporter cystinosin. Disrupted function of this
Zahra Mohammadi Chermahini, Mansoor Salehi, Alaleh Gheissari, Faeze Ahmadi Beni, Farinaz Khosravian, Mohammad Kazemi   +5 more
doaj   +2 more sources

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis [PDF]

Journal of Translational Medicine
Background Cystinosis is a rare, incurable lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body.
Sante Princiero Berlingerio, Tjessa Bondue, Sarah Tassinari, Florian Siegerist, Angela Ferrulli, Celien Lismont, Sara Cairoli, Bianca Maria Goffredo, Bart Ghesquière, Marc Fransen, Nicole Endlich, Fanny Oliveira Arcolino, Benedetta Bussolati, Lambertus van den Heuvel, Elena Levtchenko   +14 more
doaj   +2 more sources

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]

Frontiers in Immunology
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Marianna Nicoletta Rossi, Marianna Nicoletta Rossi, Valentina Matteo, Francesca Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, Ivan Caiello, Elena Loricchio, Francesco Bellomo, Anna Taranta, Francesco Emma, Fabrizio De Benedetti, Giusi Prencipe   +13 more
doaj   +2 more sources

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. [PDF]

Meta Gene, 2015
Chkioua L, Khedhiri S, Grissa O, Aloui C, Turkia HB, Ferchichi S, Miled A, Froissart R, Acquaviva C, Laradi S.   +9 more
europepmc   +2 more sources

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

JIMD Rep, 2014
Soliman NA, Elmonem MA, van den Heuvel L, Abdel Hamid RH, Gamal M, Bongaers I, Marie S, Levtchenko E.   +7 more
europepmc   +3 more sources

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification [PDF]

Frontiers in Genetics
Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular ...
Chen-Han Wilfred Wu, Chen-Han Wilfred Wu, Alicja Tomaszewski, Alicja Tomaszewski, Louisa Stark, Fernando Scaglia, Ewa Elenberg, Fredrick R. Schumaker   +7 more
doaj   +2 more sources

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. [PDF]

Hum Genome Var, 2017
Sadeghipour F, Basiratnia M, Derakhshan A, Fardaei M.   +3 more
europepmc   +3 more sources

Analysis of CTNS gene transcripts in nephropathic cystinosis. [PDF]

Pediatr Nephrol, 2010
Taranta A, Wilmer MJ, van den Heuvel LP, Bencivenga P, Bellomo F, Levtchenko EN, Emma F.   +6 more
europepmc   +3 more sources