These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
201 related articles for article (PubMed ID: 35513889)
1. Cystinosis and two rare mutations in CTNS gene: two case reports. Gholami Yarahmadi S; Sarlaki F; Morovvati S J Med Case Rep; 2022 May; 16(1):181. PubMed ID: 35513889 [TBL] [Abstract][Full Text] [Related]
2. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123 [TBL] [Abstract][Full Text] [Related]
3. CTNS molecular genetics profile in a Persian nephropathic cystinosis population. Ghazi F; Hosseini R; Akouchekian M; Teimourian S; Ataei Kachoei Z; Otukesh H; Gahl WA; Behnam B Nefrologia; 2017; 37(3):301-310. PubMed ID: 28238446 [TBL] [Abstract][Full Text] [Related]
4. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. Tang S; Danda S; Zoleikhaeian M; Simon M; Huang T Genet Test Mol Biomarkers; 2009 Aug; 13(4):435-8. PubMed ID: 19580442 [TBL] [Abstract][Full Text] [Related]
5. Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. Elmonem MA; Khalil R; Khodaparast L; Khodaparast L; Arcolino FO; Morgan J; Pastore A; Tylzanowski P; Ny A; Lowe M; de Witte PA; Baelde HJ; van den Heuvel LP; Levtchenko E Sci Rep; 2017 Feb; 7():42583. PubMed ID: 28198397 [TBL] [Abstract][Full Text] [Related]
6. Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis. Jaradat S; Al-Rababah B; Hazza I; Akl K; Saca E; Al-Younis D Nefrologia; 2015; 35(6):547-53. PubMed ID: 26565940 [TBL] [Abstract][Full Text] [Related]
7. Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis. Chkioua L; Amri Y; Saheli C; Mili W; Mabrouk S; Chabchoub I; Boudabous H; Azzouz WB; Turkia HB; Ferchichi S; Tebib N; Massoud T; Ghorbel M; Laradi S Diagn Pathol; 2022 May; 17(1):44. PubMed ID: 35524314 [TBL] [Abstract][Full Text] [Related]
8. A case of ocular cystinosis associated with two potentially severe CTNS mutations. Browning AC; Figueiredo GS; Baylis O; Montgomery E; Beesley C; Molinari E; Figueiredo FC; Sayer JA Ophthalmic Genet; 2019 Apr; 40(2):157-160. PubMed ID: 30957593 [TBL] [Abstract][Full Text] [Related]
9. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Cherqui S; Sevin C; Hamard G; Kalatzis V; Sich M; Pequignot MO; Gogat K; Abitbol M; Broyer M; Gubler MC; Antignac C Mol Cell Biol; 2002 Nov; 22(21):7622-32. PubMed ID: 12370309 [TBL] [Abstract][Full Text] [Related]
10. Bondue T; Khodaparast L; Khodaparast L; Cairoli S; Goffredo BM; Gijsbers R; van den Heuvel L; Levtchenko E Am J Physiol Renal Physiol; 2024 Jun; 326(6):F981-F987. PubMed ID: 38545650 [TBL] [Abstract][Full Text] [Related]
11. Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside. Cherqui S Cells; 2021 Nov; 10(12):. PubMed ID: 34943781 [TBL] [Abstract][Full Text] [Related]
12. Characterization of CTNS mutations in Arab patients with cystinosis. Aldahmesh MA; Humeidan A; Almojalli HA; Khan AO; Rajab M; AL-Abbad AA; Meyer BF; Alkuraya FS Ophthalmic Genet; 2009 Dec; 30(4):185-9. PubMed ID: 19852576 [TBL] [Abstract][Full Text] [Related]
13. Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. Iglesias DM; El-Kares R; Taranta A; Bellomo F; Emma F; Besouw M; Levtchenko E; Toelen J; van den Heuvel L; Chu L; Zhao J; Young YK; Eliopoulos N; Goodyer P PLoS One; 2012; 7(8):e42840. PubMed ID: 22912749 [TBL] [Abstract][Full Text] [Related]
14. Nephropathic cystinosis: an update on genetic conditioning. Topaloglu R Pediatr Nephrol; 2021 Jun; 36(6):1347-1352. PubMed ID: 32564281 [TBL] [Abstract][Full Text] [Related]
15. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. David D; Princiero Berlingerio S; Elmonem MA; Oliveira Arcolino F; Soliman N; van den Heuvel B; Gijsbers R; Levtchenko E Nephron; 2019; 141(2):133-146. PubMed ID: 30554218 [TBL] [Abstract][Full Text] [Related]
16. The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. Brasell EJ; Chu L; El Kares R; Seo JH; Loesch R; Iglesias DM; Goodyer P Pediatr Nephrol; 2019 May; 34(5):873-881. PubMed ID: 30413946 [TBL] [Abstract][Full Text] [Related]
17. Two novel CTNS mutations in cystinosis patients in Thailand. Yeetong P; Tongkobpetch S; Kingwatanakul P; Deekajorndech T; Bernardini IM; Suphapeetiporn K; Gahl WA; Shotelersuk V Gene; 2012 May; 499(2):323-5. PubMed ID: 22450360 [TBL] [Abstract][Full Text] [Related]
18. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Attard M; Jean G; Forestier L; Cherqui S; van't Hoff W; Broyer M; Antignac C; Town M Hum Mol Genet; 1999 Dec; 8(13):2507-14. PubMed ID: 10556299 [TBL] [Abstract][Full Text] [Related]