Associated Papers
Neurological involvement in 51 cystinosis patients: A single-center experience.
Burgac E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.
Adda Neggaz L et al.
Bmc Genomic Data, 2025
Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Li C et al.
Clinical Genetics, 2024
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
Structural basis for proton coupled cystine transport by cystinosin.
Löbel M et al.
Nature Communications, 2022
More than tubular dysfunction: cystinosis and kidney outcomes.
Atmis B et al.
Journal of Nephrology, 2022
Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Savostyanov KV et al.
Frontiers in Genetics, 2022
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Najafi M et al.
Frontiers in Pediatrics, 2019
Unrecognized juvenile nephropathic cystinosis.
Schiefer J et al.
Kidney International, 2018
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.
Topaloglu R et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
Önenli-Mungan N et al.
The Turkish Journal of Pediatrics, 2016
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R et al.
Pediatric Nephrology (berlin, Germany), 2012
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0