Associated Papers
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.
Bondue T et al.
American Journal of Physiology. Renal Physiology, 2024
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model.
Medaer L et al.
Cells, 2024
The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis.
Luciani A et al.
Autophagy, 2024
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
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization.
Berquez M et al.
Nature Communications, 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
More than tubular dysfunction: cystinosis and kidney outcomes.
Atmis B et al.
Journal of Nephrology, 2022
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K et al.
Cells, 2022
Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Savostyanov KV et al.
Frontiers in Genetics, 2022
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Emma F et al.
Kidney International, 2021
Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.
Quinaux T et al.
Cells, 2021
Nephropathic cystinosis: an update on genetic conditioning.
Topaloglu R
Pediatric Nephrology (berlin, Germany), 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G 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
NLRP2 Regulates Proinflammatory and Antiapoptotic Responses in Proximal Tubular Epithelial Cells.
Rossi MN et al.
Frontiers in Cell and Developmental Biology, 2019
Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis.
Bellomo F et al.
Cellular and Molecular Life Sciences : Cmls, 2018
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.
Anastasiya KA et al.
Clinical Case Reports, 2018
Slow progression of renal failure in a child with infantile cystinosis.
Bitsori M et al.
Cen Case Reports, 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
Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.
Sadeghipour F et al.
Human Genome Variation, 2017
Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin.
Ivanova EA et al.
Cell Calcium, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Altered mTOR signalling in nephropathic cystinosis.
Ivanova EA et al.
Journal of Inherited Metabolic Disease, 2016
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
CTNS mutations in publicly-available human cystinosis cell lines.
Zykovich A et al.
Molecular Genetics and Metabolism Reports, 2015
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
Soliman NA et al.
Jimd Reports, 2014
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
Al-Haggar M
World Journal of Nephrology, 2013
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R et al.
Pediatric Nephrology (berlin, Germany), 2012
Amish, mennonite, and hutterite genetic disorder database.
Payne M et al.
Paediatrics & Child Health, 2011
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