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Select item 107071221.

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 95300272.

Structure and Mechanism of Human Cystine Exporter Cystinosin

Xue Guo, Philip Schmiege, Tufa E. Assafa, Rong Wang, Yan Xu, Linda Donnelly, Michael Fine, Xiaodan Ni, Jiansen Jiang, Glenn Millhauser, Liang Feng, Xiaochun Li

Cell. Author manuscript; available in PMC 2023 Sep 29.

Published in final edited form as: Cell. 2022 Sep 29; 185(20): 3739–3752.e18. Published online 2022 Sep 15. doi: 10.1016/j.cell.2022.08.020

PMCID:: PMC9530027

Article PDF–2.7M

Select item 90743443.

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 90742604.

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

PMCID:: PMC9074260

Article PDF–4.4M

Select item 86995565.

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

Stephanie Cherqui

Cells. 2021 Dec; 10(12): 3273. Published online 2021 Nov 23. doi: 10.3390/cells10123273

PMCID:: PMC8699556

Article PDF–13M

Select item 86907146.

罕见病研究：CTNS基因突变致胱氨酸贮积症

王欣, 张碧丽, 陈晓颖, 郭珍

Zhongguo Dang Dai Er Ke Za Zhi. 2021 Dec 15; 23(12): 1276–1281. Chinese. doi: 10.7499/j.issn.1008-8830.2109042

PMCID:: PMC8690714

Article PDF–919K

Select item 84674067.

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

PMCID:: PMC8467406

Article PDF–963K

Select item 80453948.

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm

Orphanet J Rare Dis. 2021; 16: 177. Published online 2021 Apr 13. doi: 10.1186/s13023-021-01818-0

PMCID:: PMC8045394

Article PDF–1.0M

Select item 58218289.

A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin

Anup Arunrao Deshpande, Anuj Shukla, Anand Kumar Bachhawat

Sci Rep. 2018; 8: 3442. Published online 2018 Feb 21. doi: 10.1038/s41598-018-21483-x

Correction in:: Sci Rep. 2019; 9: 15003.

PMCID:: PMC5821828

Article PDF–1.8M

Select item 559268710.

Potential dual function of PQ-loop proteins such as cystinosin

Vladimir Saudek

J Biol Chem. 2017 Sep 8; 292(36): 15133. doi: 10.1074/jbc.L117.795278

PMCID:: PMC5592687

Article PDF–83K

Select item 534100611.

Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)

Nathalie Nevo, Lucie Thomas, Cerina Chhuon, Zuzanna Andrzejewska, Joanna Lipecka, François Guillonneau, Anne Bailleux, Aleksander Edelman, Corinne Antignac, Ida Chiara Guerrera

Mol Cell Proteomics. 2017 Mar; 16(3): 457–468. Published online 2017 Jan 12. doi: 10.1074/mcp.M116.063867

PMCID:: PMC5341006

Article PDF–2.3M

Select item 485820812.

Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting

Francesco Bellomo, Anna Taranta, Stefania Petrini, Rossella Venditti, Maria Teresa Rocchetti, Laura Rita Rega, Serena Corallini, Loreto Gesualdo, Maria Antonietta De Matteis, Francesco Emma

PLoS One. 2016; 11(5): e0154805. Published online 2016 May 5. doi: 10.1371/journal.pone.0154805

PMCID:: PMC4858208

Article PDF–13M

Select item 472897813.

A case of corneal cystinosis in a patient with rickets and chronic renal failure

Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung

Indian J Ophthalmol. 2015 Oct; 63(10): 785–787. doi: 10.4103/0301-4738.171509

PMCID:: PMC4728978

Article PDF–771K

Select item 438185014.

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

Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

ScientificWorldJournal. 2015; 2015: 309410. Published online 2015 Mar 17. doi: 10.1155/2015/309410

PMCID:: PMC4381850

Article PDF–896K

Select item 437495815.

Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin

Ekaterina A. Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N. Levtchenko

PLoS One. 2015; 10(3): e0120998. Published online 2015 Mar 26. doi: 10.1371/journal.pone.0120998

PMCID:: PMC4374958

Article PDF–2.8M

Select item 379031316.

Two novel CTNS mutations in cystinosis patients in Thailand

Patra Yeetong, Siraprapa Tongkobpetch, Pornchai Kingwatanakul, Tawatchai Deekajorndech, Isa M. Bernardini, Kanya Suphapeetiporn, William A. Gahl, Vorasuk Shotelersuk

Gene. Author manuscript; available in PMC 2013 Oct 4.

Published in final edited form as: Gene. 2012 May 15; 499(2): 323–325. Published online 2012 Mar 16. doi: 10.1016/j.gene.2012.03.047

PMCID:: PMC3790313

Article PDF–531K

Select item 350193317.

Genetic basis of cystinosis in Turkish patients: a single-center experience

Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl

Pediatr Nephrol. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Pediatr Nephrol. 2012 Jan; 27(1): 115–121. Published online 2011 Jul 24. doi: 10.1007/s00467-011-1942-6