| 1 |
34888877 | Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients. | 2022 Mar |
1 |
| 2 |
35260693 | Development of a fibrin-mediated gene delivery system for the treatment of cystinosis via design of experiment. | 2022 Mar 8 |
1 |
| 3 |
35406807 | Urine-Derived Kidney Progenitor Cells in Cystinosis. | 2022 Apr 6 |
1 |
| 4 |
35513889 | Cystinosis and two rare mutations in CTNS gene: two case reports. | 2022 May 6 |
4 |
| 5 |
32564281 | Nephropathic cystinosis: an update on genetic conditioning. | 2021 Jun |
2 |
| 6 |
33822926 | Testicular function in males with infantile nephropathic cystinosis. | 2021 Apr 20 |
4 |
| 7 |
33975805 | Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis. | 2021 Jul |
2 |
| 8 |
34165243 | Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis. | 2021 Jul 7 |
2 |
| 9 |
34237326 | An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. | 2021 Nov |
2 |
| 10 |
32273301 | Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis. | 2020 May |
1 |
| 11 |
32280591 | Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea. | 2020 Jun |
1 |
| 12 |
32354056 | Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy. | 2020 Apr 28 |
2 |
| 13 |
29260317 | Effects of long-term cysteamine treatment in patients with cystinosis. | 2019 Apr |
2 |
| 14 |
30413946 | The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. | 2019 May |
3 |
| 15 |
30554218 | Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. | 2019 |
1 |
| 16 |
30591971 | A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats. | 2019 Feb |
1 |
| 17 |
30957593 | A case of ocular cystinosis associated with two potentially severe CTNS mutations. | 2019 Apr |
1 |
| 18 |
31361240 | Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation. | 2019 Jul-Sep |
1 |
| 19 |
31548351 | Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression. | 2019 Nov |
2 |
| 20 |
31672123 | CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. | 2019 Oct 31 |
3 |
| 21 |
31800572 | The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis. | 2019 |
2 |
| 22 |
29421779 | Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. | 2018 Jan |
3 |
| 23 |
29467429 | A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin. | 2018 Feb 21 |
2 |
| 24 |
29549422 | Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis. | 2018 Sep |
4 |
| 25 |
29806776 | Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. | 2018 |
2 |
| 26 |
30030899 | Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report. | 2018 Nov |
1 |
| 27 |
27990015 | The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. | 2017 Feb |
1 |
| 28 |
28198397 | Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. | 2017 Feb 15 |
1 |
| 29 |
28638260 | Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. | 2017 Jun |
1 |
| 30 |
26449607 | Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling. | 2016 Jun |
3 |
| 31 |
26915455 | Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells. | 2016 Jun 15 |
6 |
| 32 |
26994576 | Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. | 2016 Apr |
1 |
| 33 |
27102039 | Cystinosis: a review. | 2016 Apr 22 |
3 |
| 34 |
27142334 | Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration. | 2016 Jun 15 |
4 |
| 35 |
27148969 | Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting. | 2016 |
2 |
| 36 |
27734949 | TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion. | 2016 Oct 13 |
1 |
| 37 |
25071085 | Inhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis. | 2015 Mar |
1 |
| 38 |
25947233 | Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient. | 2015 May 7 |
1 |
| 39 |
24464559 | Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. | 2014 |
2 |
| 40 |
25165189 | Nephropathic cystinosis: an international consensus document. | 2014 Sep |
2 |
| 41 |
23078879 | Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry. | 2013 Feb |
2 |
| 42 |
23465695 | In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells. | 2013 May |
1 |
| 43 |
23813804 | Cystine dimethylester loading promotes oxidative stress and a reduction in ATP independent of lysosomal cystine accumulation in a human proximal tubular epithelial cell line. | 2013 Oct |
1 |
| 44 |
24385851 | Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. | 2013 Dec |
1 |
| 45 |
22649030 | Cystinosin is a melanosomal protein that regulates melanin synthesis. | 2012 Sep |
2 |
| 46 |
22912749 | Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. | 2012 |
2 |
| 47 |
21392501 | Reduced phosphate transport in the renal proximal tubule cells in cystinosis is due to decreased expression of transporters rather than an energy defect. | 2011 Apr 8 |
2 |
| 48 |
21508882 | Transcriptional and posttranscriptional regulation of the CTNS gene. | 2011 Aug |
1 |
| 49 |
21553323 | Natural history of adolescent-onset cystinosis. | 2011 Aug |
2 |
| 50 |
22470381 | Oxidative stress in cystinosis patients. | 2011 Jan |
1 |