Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model.
Medaer L et al.
Cells, 2024
Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Li C et al.
Clinical Genetics, 2024
Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.
Thiyagarajan R et al.
International Journal of Molecular Sciences, 2023
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
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L et al.
Diagnostic Pathology, 2022
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.
Guan YJ et al.
Frontiers in Pediatrics, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).
Nevo N et al.
Molecular & Cellular Proteomics : Mcp, 2017
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
Cherqui S et al.
Nature Reviews. Nephrology, 2017
Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.
Andrzejewska Z et al.
Journal of the American Society of Nephrology : Jasn, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
First report of CTNS mutations in a Chinese family with infantile cystinosis.
Yang YJ et al.
Thescientificworldjournal, 2015
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
Al-Haggar M
World Journal of Nephrology, 2013
Two novel CTNS mutations in cystinosis patients in Thailand.
Yeetong P et al.
Gene, 2012
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Kalatzis V et al.
Human Molecular Genetics, 2004
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0