Results 11 to 20 of about 2,523,567 (168)

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

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   +6 more sources

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns [PDF]

BMC Genomics, 2000
Background Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten.
Poras Isabelle, Forestier Lionel, Kalatzis Vasiliki, Cherqui Stéphanie, Antignac Corinne   +4 more
doaj   +8 more sources

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

JIMD Rep, 2014
Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes.
Soliman NA, Elmonem MA, van den Heuvel L, Abdel Hamid RH, Gamal M, Bongaers I, Marie S, Levtchenko E.   +7 more
europepmc   +7 more sources

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis [PDF]

Scientific Reports, 2023
Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns −/− zebrafish ...
Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino-Garví, Maximilian Schindler, Hans Jacobus Baelde, Sara Cairoli, Bianca Maria Goffredo, Fanny Oliveira Arcolino, Jürgen Dieker, Manoe Jacoba Janssen, Nicole Endlich, Roland Brock, Rik Gijsbers, Lambertus van den Heuvel, Elena Levtchenko   +15 more
doaj   +5 more sources

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

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrología, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam   +7 more
doaj   +6 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
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin.
Sadeghipour F, Basiratnia M, Derakhshan A, Fardaei M.   +3 more
europepmc   +5 more sources

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model [PDF]

Cells
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes.
Louise Medaer, Dries David, Maxime Smits, Elena Levtchenko, Maurilio Sampaolesi, Rik Gijsbers   +5 more
doaj   +2 more sources

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

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   +3 more sources

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells

Laboratory Investigation
Cystinosis is an autosomal recessive disease caused by mutations in the CTNS gene encoding a protein called cystinosine, which is a lysosomal cystine transporter.
Gok-Topak, Elif Damla Go, Topaloglu, Rezan, Baysal, İpek, NEMUTLU, EMİRHAN, EYLEM, CEMİL CAN, ÖZALTIN, FATİH, ULUBAYRAM, KEZBAN, GÜLHAN, BORA, KIR, SEDEF, Gök-Topak, Elif Damla, UÇAR, GÜLBERK, YABANOĞLU ÇİFTÇİ, SAMİYE, Yabanoglu-Ciftci, Samiye   +12 more
core   +5 more sources