Genetics

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

Neveen A. Soliman, Mohamed A. Elmonem, Lambertus van den Heuvel, Rehab H. Abdel Hamid, Mohamed Gamal, Inge Bongaers, Sandrine Marie, Elena Levtchenko

Hematopoietic Stem Cell Gene Therapy for Multisystemic Lysosomal Storage Disorder Cystinosis

Published in Molecular Therapy by Stephanie Cherqui, PhD, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California. Stefani, Vogel

Adult Cystinosis: Electron Microscopy in the Conjunctiva

Graefe's Arch Clin Exp Opthalmol (1982); Stefani, Voge

Identification and subcellular localization of a new cystinosis isoform

American Journal of Renal Physiology (Mar 2008); Tarranta, Petrini, Palma, Mannucci, Wilmer, De Luca, Diomedi-Camassei, Corallini, Bellomo, van den Heuvel, Levtchenko, Emma

Cystinosis

Cystinosis Gene Review (Apr 2009); Nesterova, Gahl

Renal phenotype of the cystinosis mouse model is dependent upon genetic background

Nephrology Dialysis Transplantation (2009); Nevo , Chol, Bailleux, Kalatzis, Morriset, Devuyst, Gubler, Antignacl

Development, and in vivo testing, of novel therapies for cystinosis

CRN 24-mo progress report (Nov 2007); Antignac, Kalatzis

Gene Transfer May Be Preventative But Not Curative for a Lysosomal Transport Disorder

The American Society for Gene Therapy (June 2008); Hippert, Dubois, Morin, Disson, Ibanes, Jacquet, Schwendener, Antignac, Kremer, Kalatzis

Heterozygous Mutation of OPA1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production

PLoS ONE (Feb 2009); Tang, Le, Tse, Wallace, Huang

Increased Aptosis in Cystinotic Fibroblasts and Renal Proximal Tubule Epithelial Cells Results From Cysteinylation of Protein Kinase C8

Journal of the American Society of Nephrology (2006); Park, Pejovic, Kerisit, Junius, Thoene

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

European Journal of Human Genetics (2009); Lebre, Moriniere, Dunand, Bensman, Morichon-Delvallez, Antignac

Cystinosis and Mickey Mouse

Neph Dial Transplant (2010); Medlar, Kleta

Post-Symposium Press Release - CRF

Cystinosis Research Foundation (2010); Solsby

Potential role of aptosis in development of the cystinotic phenotype

Pediatric Nephrology (Dec 2004); Park, Thoene

Study of ATP metabolism in human cystinotic proximal tubular cell and in humans with cystinosis in vivo

Progress Report of CRN Grant (Dec 2008); Levtchenko, Wilmer

Successful treatment of the murine model of cystinosis using bone marrow cell transplantation

Blood Journal (Sept 2009); Syres, Harrison, Tadlock, Jester, Simpson, Roy, Salomon, Cherqui

The redox status of cystinotic fibroblasts

Journal of Molecular Genetics and Metabolism (2010); Vitvitsky, Witcher, Banerjee, Thoene

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters

Cell Tissue Res (Sept 2009); Wilmer, Saleem, Masereeuw, Ni, van der Velden, Russel, Mathieson, Monnens, van den Heuvel, Levtchenko

The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies

Journal of Molecular Genetics and Metabolism (2010); Larsen, Walker, Thoene

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy

International Society of Nephrology (2011); Yeagy, Harrison, Gubler, Koziol, Salomon, Cherqui

The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells

JMG Online (May 2011); Freed, Blangero, Howard, Johnson, Curran, Garcia, Lan, Abboud, Moses

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

Journal of Pediatrics Nephrology (Oct 2010); Topaloglu, Vilboux, Coskun, Ozaltin, Tinloy, Gunay-Aygun, Bakkaloglu, Besbas, van den Heuvel, Kleta, Gahl

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