Results 1 to 10 of about 1,595 (125)

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

BMC Genomic Data
Background Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a lysosomal cystine transporter.
Leila Adda Neggaz, Amira Chahinez Dahmani, Ibtissem Derriche, Nawel Adda Neggaz, Abdallah Boudjema   +4 more
doaj   +3 more sources

Cystinosis and two rare mutations in CTNS gene: two case reports [PDF]

Journal of Medical Case Reports, 2022
Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati   +2 more
doaj   +2 more sources

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis

Nefrología (English Edition), 2015
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis   +5 more
doaj   +7 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

Integrated transcriptomic and tissue-validation analyses identify palmitoylation-associated biomarkers linked to sphingolipid metabolism and immune remodeling in psoriasis [PDF]

Frontiers in Immunology
BackgroundPsoriasis is a chronic immune-mediated inflammatory skin disease characterized by epidermal dysfunction, aberrant keratinocyte activation, and complex immune remodeling. Although lipid dysregulation has increasingly been implicated in psoriasis,
Qingqiong Luo, Rongcan Shi, Rongcan Shi, Dandan Yang, Yijie Tang, Qinghui Xie, Yuling Shi, Yuling Shi, Fenyong Sun   +8 more
doaj   +2 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

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +2 more sources

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

Meta Gene, 2015
Latifa Chkioua, Chaker Aloui, Sandrine Laradi   +2 more
exaly   +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

Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]

Pediatric Nephrology, 2010
Francesco Emma, Elena Levtchenko, Francesco Bellomo   +2 more
exaly   +2 more sources