PMC Links for GEO Profiles (Select 29340271) - PMC

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Items: 10

Select item 63977141.

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

Yukiko Shimizu, Rieko Yanobu-Takanashi, Kenta Nakano, Kenji Hamase, Toshiaki Shimizu, Tadashi Okamura

Mamm Genome. 2019; 30(1): 23–33. Published online 2018 Dec 27. doi: 10.1007/s00335-018-9790-3

PMCID:: PMC6397714

Abstract Article PDF–1.6M

Select item 46670012.

Cystine accumulation attenuates insulin release from the pancreatic β‐cell due to elevated oxidative stress and decreased ATP levels

Bernadette McEvoy, Rodolfo Sumayao, Craig Slattery, Tara McMorrow, Philip Newsholme

J Physiol. 2015 Dec 1; 593(23): 5167–5182. Published online 2015 Nov 18. doi: 10.1113/JP271237

PMCID:: PMC4667001

Abstract Article PDF–550K

Select item 46404763.

Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

Celine J. Rocca, Alexander Kreymerman, Sarah N. Ur, Katie E. Frizzi, Swati Naphade, Athena Lau, Tammy Tran, Nigel A. Calcutt, Jeffrey L. Goldberg, Stephanie Cherqui

Invest Ophthalmol Vis Sci. 2015 Nov; 56(12): 7214–7223. Published online 2015 Nov 5. doi: 10.1167/iovs.15-17107

PMCID:: PMC4640476

Abstract Article PDF–1.1M

Select item 43286464.

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz

EMBO Mol Med. 2015 Feb; 7(2): 158–174. Published online 2015 Jan 13. doi: 10.15252/emmm.201404223

PMCID:: PMC4328646

Abstract Article PDF–2.9M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 31646856.

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns^−/− knockout mouse

Jennifer Simpson, Chyong Jy Nien, Kevin Flynn, Brian Jester, Stephanie Cherqui, James Jester

Mol Vis. 2011; 17: 2212–2220. Published online 2011 Aug 17.

PMCID:: PMC3164685

Abstract Article PDF–919K

Select item 26370507.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Abstract Article

Select item 17349378.

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

C Rupar, D. Matsell, S. Surry, V. Siu

J Med Genet. 2001 Sep; 38(9): 615–616. doi: 10.1136/jmg.38.9.615

PMCID:: PMC1734937

Summary PDF–120K

Select item 13775459.

CTNS mutations in an American-based population of cystinosis patients.

V Shotelersuk, D Larson, Y Anikster, G McDowell, R Lemons, I Bernardini, J Guo, J Thoene, W A Gahl

Am J Hum Genet. 1998 Nov; 63(5): 1352–1362. doi: 10.1086/302118

PMCID:: PMC1377545

Summary PDF–904K

Select item 13568210.

Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

Stéphanie Cherqui, Caroline Sevin, Ghislaine Hamard, Vasiliki Kalatzis, Mireille Sich, Marie O. Pequignot, Karïn Gogat, Marc Abitbol, Michel Broyer, Marie-Claire Gubler, Corinne Antignac

Mol Cell Biol. 2002 Nov; 22(21): 7622–7632. doi: 10.1128/MCB.22.21.7622-7632.2002