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Select item 109587341.

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

Zahra Mohammadi Chermahini, Mansoor Salehi, Alaleh Gheissari, Faeze Ahmadi Beni, Farinaz Khosravian, Mohammad Kazemi

Adv Biomed Res. 2024; 13: 2. Published online 2024 Jan 30. doi: 10.4103/abr.abr_149_23

PMCID:: PMC10958734

Article PDF–1.0M

Select item 107610402.

The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis

Alessandro Luciani, Olivier Devuyst

Autophagy. 2024; 20(1): 202–204. Published online 2023 Aug 24. doi: 10.1080/15548627.2023.2250165

PMCID:: PMC10761040

Article PDF–869K

Select item 107144573.

Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco

Orphanet J Rare Dis. 2023; 18: 389. Published online 2023 Dec 12. doi: 10.1186/s13023-023-02985-y

PMCID:: PMC10714457

Article PDF–957K

Select item 107071224.

Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation

Ramkumar Thiyagarajan, Mary Taub

Int J Mol Sci. 2023 Dec; 24(23): 17004. Published online 2023 Nov 30. doi: 10.3390/ijms242317004

PMCID:: PMC10707122

Article PDF–8.9M

Select item 106845205.

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

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

Sci Rep. 2023; 13: 20961. Published online 2023 Nov 28. doi: 10.1038/s41598-023-47085-w

PMCID:: PMC10684520

Article PDF–7.0M

Select item 105847096.

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants

Sophia Müller, Rika Kluck, Celina Jagodzinski, Malina Brügelmann, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Kerstin Fröde, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham-Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak

Pediatr Nephrol. 2023; 38(12): 3989–3999. Published online 2023 Jul 7. doi: 10.1007/s00467-023-06058-x

PMCID:: PMC10584709

Article PDF–688K

Select item 104022437.

Douwe John Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco

Version 1. Res Sq. Preprint. 2023 Jul 25. doi: 10.21203/rs.3.rs-3176642/v1

Published in:: Orphanet J Rare Dis. 2023; 18: 389.

PMCID:: PMC10402243

Article PDF–401K

Select item 100813378.

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

Ana A. Francisco, John J. Foxe, Alaina Berruti, Douwe J. Horsthuis, Sophie Molholm

Version 1. bioRxiv. Preprint. 2023 Apr 2. doi: 10.1101/2023.03.31.535145

PMCID:: PMC10081337

Article PDF–4.8M

Select item 98873859.

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis

Leonie Keidel, Katharina Hohenfellner, Benedikt Schworm, Siegfried Priglinger, Nikolaus Luft, Claudia Priglinger

Br J Ophthalmol. 2023 Feb; 107(2): 234–241. Published online 2021 Sep 16. doi: 10.1136/bjophthalmol-2021-319612

PMCID:: PMC9887385

Article PDF–1.3M

Select item 960074910.

Metabolic Advantage of 25(OH)D₃ versus 1,25(OH)₂D₃ Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting

Ping Zhou, Wai W. Cheung, Alex Gonzalez, Venya Vaddi, Eduardo A. Oliveira, Robert H. Mak

Cells. 2022 Oct; 11(20): 3264. Published online 2022 Oct 17. doi: 10.3390/cells11203264

PMCID:: PMC9600749

Article PDF–4.7M

Select item 941335411.

Beneficial Effects of Starting Oral Cysteamine Treatment in the First 2 Months of Life on Glomerular and Tubular Kidney Function in Infantile Nephropathic Cystinosis

Katharina Hohenfellner, Christina Nießl, Dieter Haffner, Jun Oh, Christine Okorn, Katja Palm, Karl-Peter Schlingmann, Simone Wygoda, William Allen Gahl

Mol Genet Metab. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Mol Genet Metab. 2022 Aug; 136(4): 282–288. Published online 2022 Jul 1. doi: 10.1016/j.ymgme.2022.06.009

PMCID:: PMC9413354

Article PDF–1.4M

Select item 939513712.

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis

Christina Nießl, Anne-Laure Boulesteix, Jun Oh, Katja Palm, Peter Schlingmann, Simone Wygoda, Dieter Haffner, Elke Wühl, Burkhard Tönshoff, Anja Buescher, Heiko Billing, Bernd Hoppe, Matthias Zirngibl, Matthias Kettwig, Kristina Moeller, Birgit Acham-Roschitz, Klaus Arbeiter, Martin Bald, Marcus Benz, Matthias Galiano, Ulrike John-Kroegel, Guenter Klaus, Daniela Marx-Berger, Katja Moser, Dirk Mueller, Ludwig Patzer, Martin Pohl, Barbara Seitz, Ulrike Treikauskas, Rodo O. von Vigier, William Allen Gahl, Katharina Hohenfellner

Mol Genet Metab. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Mol Genet Metab. 2022 Aug; 136(4): 268–273. Published online 2022 Jul 2. doi: 10.1016/j.ymgme.2022.06.010

PMCID:: PMC9395137

Article PDF–204K

Select item 908267813.

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study

Nina O'Connell, Jun Oh, Klaus Arbeiter, Anja Büscher, Dieter Haffner, Jessica Kaufeld, Christine Kurschat, Christoph Mache, Dominik Müller, Ludwig Patzer, Lutz T. Weber, Burkhard Tönshoff, Marcus Weitz, Katharina Hohenfellner, Lars Pape

Front Med (Lausanne) 2022; 9: 864554. Published online 2022 Apr 25. doi: 10.3389/fmed.2022.864554

PMCID:: PMC9082678

Article PDF–1.1M

Select item 907434414.

Cystinosis and two rare mutations in CTNS gene: two case reports

Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati

J Med Case Rep. 2022; 16: 181. Published online 2022 May 6. doi: 10.1186/s13256-022-03379-7

PMCID:: PMC9074344

Article PDF–1.0M

Select item 907426015.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi

Diagn Pathol. 2022; 17: 44. Published online 2022 May 6. doi: 10.1186/s13000-022-01221-8