Associated Papers
Hematopoietic Stem-Cell Gene Therapy for Cystinosis.
Barshop BA et al.
The New England Journal of Medicine, 2026
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.
Santoro A et al.
Experimental and Molecular Pathology, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model.
Medaer L et al.
Cells, 2024
The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.
Dong F et al.
The Ocular Surface, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Advances in Drug Discovery Targeting Lysosomal Membrane Proteins.
Wang H et al.
Pharmaceuticals (basel, Switzerland), 2023
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M et al.
Pediatric Nephrology (berlin, Germany), 2023
Cystinosis and two rare mutations in CTNS gene: two case reports.
Gholami Yarahmadi S et al.
Journal of Medical Case Reports, 2022
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L et al.
Diagnostic Pathology, 2022
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K et al.
Cells, 2022
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.
Guan YJ et al.
Frontiers in Pediatrics, 2022
Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Savostyanov KV et al.
Frontiers in Genetics, 2022
In Vitro and In Vivo Models to Study Nephropathic Cystinosis.
Cheung PY et al.
Cells, 2021
Phase 1 Renal Impairment Trial Results Supports Targeted Individualized Dosing of ELX-02 in Patients With Nephropathic Cystinosis.
Haverty T et al.
Journal of Clinical Pharmacology, 2021
Nephropathic cystinosis: an update on genetic conditioning.
Topaloglu R
Pediatric Nephrology (berlin, Germany), 2021
ELX-02: an investigational read-through agent for the treatment of nonsense mutation-related genetic disease.
Kerem E
Expert Opinion on Investigational Drugs, 2020
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia.
Mirjalili Mohanna SZ et al.
Molecular Therapy. Methods & Clinical Development, 2020
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis.
Brasell EJ et al.
Pediatric Nephrology (berlin, Germany), 2019
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
Brasell EJ et al.
Plos One, 2019
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
Cherqui S et al.
Nature Reviews. Nephrology, 2017
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.
Keeling KM
Diseases (basel, Switzerland), 2016
CTNS mutations in publicly-available human cystinosis cell lines.
Zykovich A et al.
Molecular Genetics and Metabolism Reports, 2015
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
Al-Haggar M
World Journal of Nephrology, 2013
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Nephropathic cystinosis: late complications of a multisystemic disease.
Nesterova G et al.
Pediatric Nephrology (berlin, Germany), 2008
[Cystinosis--an orphan disease. Pathogenesis and current treatment].
Zachwieja J
Przeglad Lekarski, 2006
Early oral cysteamine therapy for nephropathic cystinosis.
Gahl WA
European Journal of Pediatrics, 2003
Mutational spectrum of the CTNS gene in Italy.
Mason S et al.
European Journal of Human Genetics : Ejhg, 2003
New aspects of the pathogenesis of cystinosis.
Kalatzis V et al.
Pediatric Nephrology (berlin, Germany), 2003
Cystinosis: from gene to disease.
Kalatzis V et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2002
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
Helip-Wooley A et al.
Molecular Genetics and Metabolism, 2002
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
Phornphutkul C et al.
American Journal of Human Genetics, 2001
Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.
Kalatzis V et al.
Journal of the American Society of Nephrology : Jasn, 2001
Lysosomal transport disorders.
Mancini GM et al.
Journal of Inherited Metabolic Disease, 2000
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
McGowan-Jordan J et al.
European Journal of Human Genetics : Ejhg, 1999
CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V et al.
American Journal of Human Genetics, 1998
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0