Results 11 to 20 of about 9,680 (207)

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +2 more sources

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells [PDF]

EMBO Reports
Cystinosis is a systemic lysosomal storage disease resulting from mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, leading to cystine accumulation in all organs.
Veenita Khare, Jean-Claude Farré, Mouad Ait Kbaich, Céline J Rocca, Cynthia Tang, Xuan Ma, Kavya Biederman, Ioli Mathur, Rafael A Badell-Grau, Anusha Sivakumar, Rola Chen, Sergio D Catz, Stephanie Cherqui   +12 more
doaj   +2 more sources

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis. [PDF]

BMC Genom Data
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter.
Adda Neggaz L, Dahmani AC, Derriche I, Adda Neggaz N, Boudjema A.   +4 more
europepmc   +2 more sources

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

The Scientific World Journal, 2015
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders.
Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu   +10 more
doaj   +2 more sources

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Diagnostic Pathology, 2021
Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities.
L. Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, S. Mabrouk, I. Chabchoub, Hela Boudabous, Wissem Ben Azzouz, H. B. Turkia, S. Ferchichi, N. Tebib, T. Massoud, M. Ghorbel, S. Laradi   +13 more
semanticscholar   +4 more sources

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia [PDF]

BMC Genomic Data
Background Cystinosis is a lysosomal storage disease caused by the accumulation of intralysosomal cystine in different tissues and organs including: brain, cornea, kidneys, liver and, pancreas.
Chayma Sahli, Sameh Mabrouk, Nesrine Jemmeli, Salsabil Nouir, Roua Ltaifa, Taieb Messaoud, Hassen Ben Abdennebi, Salima Ferchichi, Mohamed Ghorbel, Sandrine Laradi, Latifa Chkioua   +10 more
doaj   +2 more sources

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

Meta Gene, 2015
Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency
Latifa Chkioua, Chaker Aloui, Cecile Acquaviva Bourdain   +2 more
exaly   +2 more sources

Leptin signalling altered in infantile nephropathic cystinosis‐related bone disorder [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Wai W. Cheung, Ping Zhou, Ronghao Zheng, Arieh Gertler, Eduardo A. Oliveira, Robert H. Mak   +5 more
doaj   +2 more sources

Novel mechanism for tubular injury in nephropathic cystinosis [PDF]

eLife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Swastika Sur, Maggie Kerwin, Silvia Pineda, Poonam Sansanwal, Tara K Sigdel, Marina Sirota, Minnie M Sarwal   +6 more
doaj   +2 more sources

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

Genetics and Molecular Biology, 2013
Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus.
Darine Villela, Lilian Kimura, David Schlesinger, Amanda Gonçalves, Peter L. Pearson, Claudia K. Suemoto, Carlos Pasqualucci, Ana Cristina Krepischi, Lea T. Grinbergand, Carla Rosenberg   +9 more
doaj   +2 more sources