Associated Papers
Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.
Sahli C et al.
Bmc Genomic Data, 2026
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.
Adda Neggaz L et al.
Bmc Genomic Data, 2025
CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.
Mohammadi Chermahini Z et al.
Advanced Biomedical Research, 2024
Pediatric Renal Rickets at a Tertiary Center.
Singh A et al.
Indian Pediatrics, 2023
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
Nephrogenic Diabetes Insipidus in a 10-mo-old Infant: Complication of Nephropathic Cystinosis.
Singh A et al.
Indian Journal of Pediatrics, 2023
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M et al.
Pediatric Nephrology (berlin, Germany), 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
In Vitro and In Vivo Models to Study Nephropathic Cystinosis.
Cheung PY et al.
Cells, 2021
Cystinosis induced by CTNS gene mutation: a rare disease study.
Wang X et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.
Quinaux T et al.
Cells, 2021
Genetic variants associated with diseases in Afghan population.
Zadran SK et al.
Molecular Genetics & Genomic Medicine, 2021
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Fleige T et al.
European Journal of Human Genetics : Ejhg, 2020
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
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
CTNS mutations in publicly-available human cystinosis cell lines.
Zykovich A et al.
Molecular Genetics and Metabolism Reports, 2015
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.
Chkioua L et al.
Meta Gene, 2015
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
Soliman NA et al.
Jimd Reports, 2014
Characterization of CTNS mutations in Arab patients with cystinosis.
Aldahmesh MA et al.
Ophthalmic Genetics, 2009
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
Alcántara-Ortigoza MA et al.
Genetic Testing, 2008
ERS1 encodes a functional homologue of the human lysosomal cystine transporter.
Gao XD et al.
The Febs Journal, 2005
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
[Cystinosis--a treatable disease due to defective lysosomal transporter protein].
Nuutinen M
Duodecim; Laaketieteellinen Aikakauskirja, 2004
Mutational spectrum of the CTNS gene in Italy.
Mason S et al.
European Journal of Human Genetics : Ejhg, 2003
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V et al.
Human Mutation, 2002
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
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M et al.
Human Mutation, 2002
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.
Kalatzis V et al.
The Embo Journal, 2001
CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V et al.
American Journal of Human Genetics, 1998
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
Jaradat S et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0