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Best matches for cystinosis:

Cystinosis: a review. Elmonem MA et al. Orphanet J Rare Dis. (2016)

Nephropathic cystinosis: an update. Veys KR et al. Curr Opin Pediatr. (2017)

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Cherqui S et al. Nat Rev Nephrol. (2017)

Search results

Items: 1 to 20 of 1479

1.

Anterior Segment Optical Coherence Tomography of Ocular Cystinosis Confirmed by Electron Microscopy.

Golla A, Weikert MP, Chevez-Barrios P, Al-Mohtaseb Z.

Ocul Oncol Pathol. 2019 Feb;5(2):110-113. doi: 10.1159/000490389. Epub 2018 Jul 12.

PMID:
30976588
2.

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 6:1-4. doi: 10.1080/13816810.2019.1592198. [Epub ahead of print]

PMID:
30957593
3.

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.

Najafi M, Tamandani DMK, Azarfar A, Bakey Z, Behjati F, Antony D, Schüle I, Sadeghi-Bojd S, Karimiani EG, Schmidts M.

Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019.

4.

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

Lobry T, Miller R, Nevo N, Rocca CJ, Zhang J, Catz SD, Moore F, Thomas L, Pouly D, Bailleux A, Guerrera IC, Gubler MC, Cheung WW, Mak RH, Montier T, Antignac C, Cherqui S.

Kidney Int. 2019 Mar 6. pii: S0085-2538(19)30172-3. doi: 10.1016/j.kint.2019.01.029. [Epub ahead of print]

PMID:
30928021
5.

Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.

Zhang J, He J, Johnson JL, Napolitano G, Ramadass M, Rahman F, Catz SD.

Autophagy. 2019 Mar 20:1-19. doi: 10.1080/15548627.2019.1596475. [Epub ahead of print]

PMID:
30892133
6.

Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report.

Kuczborska K, Gozdowska J, Lewandowska D, Grenda R, Gałązka Z, Nazarewski S, Durlik M.

Transplant Proc. 2019 Mar;51(2):545-547. doi: 10.1016/j.transproceed.2018.12.026. Epub 2019 Jan 3.

PMID:
30879586
7.

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.

Li XQ, Wu D, Liang XJ, Li WJ, Liu M, Cao BY, Su C, Meng X, Gong CX.

J Pediatr Endocrinol Metab. 2019 Apr 24;32(4):375-382. doi: 10.1515/jpem-2018-0263.

PMID:
30849045
8.

Intrinsic Bone Defects in Cystinotic Mice.

Battafarano G, Rossi M, Rega LR, Di Giovamberardino G, Pastore A, D'Agostini M, Porzio O, Nevo N, Emma F, Taranta A, Del Fattore A.

Am J Pathol. 2019 Feb 19. pii: S0002-9440(18)30964-7. doi: 10.1016/j.ajpath.2019.01.015. [Epub ahead of print]

PMID:
30794806
9.

Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells.

Zhang J, He J, Johnson JL, Rahman F, Gavathiotis E, Cuervo AM, Catz SD.

Front Endocrinol (Lausanne). 2019 Feb 1;10:21. doi: 10.3389/fendo.2019.00021. eCollection 2019.

10.

The trafficking protein JFC1 regulates Rac1-GTP localization at the uropod controlling neutrophil chemotaxis and in vivo migration.

Ramadass M, Johnson JL, Marki A, Zhang J, Wolf D, Kiosses WB, Pestonjamasp K, Ley K, Catz SD.

J Leukoc Biol. 2019 Feb 12. doi: 10.1002/JLB.1VMA0818-320R. [Epub ahead of print]

PMID:
30748033
11.

Swallowing dysfunction in patients with nephropathic cystinosis.

van Rijssel AE, Knuijt S, Veys K, Levtchenko EN, Janssen MCH.

Mol Genet Metab. 2019 Jan 22. pii: S1096-7192(18)31192-2. doi: 10.1016/j.ymgme.2019.01.011. [Epub ahead of print]

PMID:
30685240
12.

Hierarchical processing of visual stimuli in nephropathic cystinosis.

Sathappan A, Trauner D.

J Inherit Metab Dis. 2019 Jan 22. doi: 10.1002/jimd.12062. [Epub ahead of print]

PMID:
30671973
13.

Prohibitins: A Critical Role in Mitochondrial Functions and Implication in Diseases.

Signorile A, Sgaramella G, Bellomo F, De Rasmo D.

Cells. 2019 Jan 18;8(1). pii: E71. doi: 10.3390/cells8010071. Review.

14.

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.

Guha S, Konkwo C, Lavorato M, Mathew ND, Peng M, Ostrovsky J, Kwon YJ, Polyak E, Lightfoot R, Seiler C, Xiao R, Bennett M, Zhang Z, Nakamaru-Ogiso E, Falk MJ.

Hum Mol Genet. 2019 Jan 22. doi: 10.1093/hmg/ddz023. [Epub ahead of print]

PMID:
30668749
15.

Carbon Black Tinted Contact Lenses for Reduction of Photophobia in Cystinosis Patients.

Dixon P, Chauhan A.

Curr Eye Res. 2019 Jan 9:1-8. doi: 10.1080/02713683.2018.1563701. [Epub ahead of print]

PMID:
30624086
16.

A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?

Midgley J.

Pediatr Nephrol. 2019 May;34(5):917-920. doi: 10.1007/s00467-018-4173-2. Epub 2019 Jan 8. No abstract available.

PMID:
30623245
17.

A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats.

Shimizu Y, Yanobu-Takanashi R, Nakano K, Hamase K, Shimizu T, Okamura T.

Mamm Genome. 2019 Feb;30(1-2):23-33. doi: 10.1007/s00335-018-9790-3. Epub 2018 Dec 27.

18.

In vivo confocal microscopy and anterior segment optical coherence tomography follow-up of cysteamine treatment in corneal cystinosis.

Ozdemir HB, Özmen MC, Aktas Z, Hasanreisoglu M.

Indian J Ophthalmol. 2019 Jan;67(1):153-155. doi: 10.4103/ijo.IJO_736_18.

19.

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. doi: 10.1159/000495270. Epub 2018 Dec 14. Review.

20.

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series.

Biswas S, Sornalingam K.

Ophthalmol Ther. 2019 Mar;8(1):125-136. doi: 10.1007/s40123-018-0156-4. Epub 2018 Dec 5.

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