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Select item 100262481.

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine

Ester De Leo, Anna Taranta, Roberto Raso, Elena Polishchuk, Valentina D’Oria, Marco Pezzullo, Bianca Maria Goffredo, Sara Cairoli, Francesco Bellomo, Giulia Battafarano, Francesca Diomedi Camassei, Andrea Del Fattore, Roman Polishchuk, Francesco Emma, Laura Rita Rega

Hum Mol Genet. 2023 Apr 1; 32(7): 1090–1101. Published online 2022 Oct 27. doi: 10.1093/hmg/ddac266

PMCID:: PMC10026248

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Select item 98873852.

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

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Select item 96007493.

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

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Select item 93435154.

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge

Bobbity Deepthi, Sriram Krishnamurthy, Pediredla Karunakar, Gowrishankar Barathidasan, Thiagarajan Narayanasamy Rajavelu

CEN Case Rep. 2022 Aug; 11(3): 347–350. Published online 2022 Jan 20. doi: 10.1007/s13730-021-00675-x

PMCID:: PMC9343515

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Select item 92623945.

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis

Patrick Krohn, Laura Rita Rega, Marianne Harvent, Beatrice Paola Festa, Anna Taranta, Alessandro Luciani, Joseph Dewulf, Alessio Cremonesi, Francesca Diomedi Camassei, James V M Hanson, Christina Gerth-Kahlert, Francesco Emma, Marine Berquez, Olivier Devuyst

Hum Mol Genet. 2022 Jul 1; 31(13): 2262–2278. Published online 2022 Feb 8. doi: 10.1093/hmg/ddac033

PMCID:: PMC9262394

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Select item 91800506.

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives

Francesco Emma, Giovanni Montini, Marco Pennesi, Licia Peruzzi, Enrico Verrina, Bianca Maria Goffredo, Fabrizio Canalini, David Cassiman, Silvia Rossi, Elena Levtchenko

Cells. 2022 Jun; 11(11): 1839. Published online 2022 Jun 4. doi: 10.3390/cells11111839

PMCID:: PMC9180050

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Select item 90961007.

Genetic Landscape of Nephropathic Cystinosis in Russian Children

K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin

Front Genet. 2022; 13: 863157. Published online 2022 Apr 28. doi: 10.3389/fgene.2022.863157

PMCID:: PMC9096100

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Select item 90826788.

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

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Select item 87737849.

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies

Mohamed A. Elmonem, Koenraad R. P. Veys, Giusi Prencipe

Cells. 2022 Jan; 11(2): 190. Published online 2022 Jan 6. doi: 10.3390/cells11020190

PMCID:: PMC8773784

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Select item 874998710.

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts

Dieter Haffner, Maren Leifheit-Nestler, Candide Alioli, Justine Bacchetta

Cells. 2022 Jan; 11(1): 170. Published online 2022 Jan 5. doi: 10.3390/cells11010170

PMCID:: PMC8749987

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Select item 874334511.

Cysteamine bitartrate delayed‐release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open‐label study of treatment‐naïve patients <6 years of age with nephropathic cystinosis

Maria Helena Vaisbich, Juliana Caires Ferreira, Heather Price, Kyleen D. Young, Saba Sile, Gregg Checani, Craig B. Langman

JIMD Rep. 2022 Jan; 63(1): 66–79. Published online 2021 Nov 1. doi: 10.1002/jmd2.12260

PMCID:: PMC8743345

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Select item 873964212.

Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report

Mohammad Khaled Alsultan, Zeina Nizar Bdeir, Qussai Hassan, Tahani Ali

Case Rep Nephrol Dial. 2021 Sep-Dec; 11(3): 362–366. Published online 2021 Nov 30. doi: 10.1159/000520794

PMCID:: PMC8739642

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Select item 865765813.

Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis

Francesco Bellomo, Ester De Leo, Anna Taranta, Laura Giaquinto, Gianna Di Giovamberardino, Sandro Montefusco, Laura Rita Rega, Anna Pastore, Diego Luis Medina, Diego Di Bernardo, Maria Antonietta De Matteis, Francesco Emma

Int J Mol Sci. 2021 Dec; 22(23): 12829. Published online 2021 Nov 27. doi: 10.3390/ijms222312829

PMCID:: PMC8657658

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Select item 851735614.

Targeting interleukin‐1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis

Wai W. Cheung, Sheng Hao, Ronghao Zheng, Zhen Wang, Alex Gonzalez, Ping Zhou, Hal M. Hoffman, Robert H. Mak

J Cachexia Sarcopenia Muscle. 2021 Oct; 12(5): 1296–1311. Published online 2021 Jun 30. doi: 10.1002/jcsm.12744

PMCID:: PMC8517356

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Select item 846740615.

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation

Thomas Quinaux, Aurélia Bertholet-Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Ségolène Gaillard, Candide Alioli, Sophie Vasseur, Cécile Acquaviva, Olivier Peyruchaud, Irma Machuca-Gayet, Justine Bacchetta

Cells. 2021 Sep; 10(9): 2498. Published online 2021 Sep 21. doi: 10.3390/cells10092498