Associated Papers
Long-term outcomes in nephropathic cystinosis: a review.
Chang HE et al.
Pediatric Nephrology (berlin, Germany), 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
Cystinosis: Status of research and treatment in India and the world.
Vashist N et al.
Journal of Biosciences, 2023
Structural basis for proton coupled cystine transport by cystinosin.
Löbel M et al.
Nature Communications, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Chkioua L et al.
Diagnostic Pathology, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
In Vitro and In Vivo Models to Study Nephropathic Cystinosis.
Cheung PY et al.
Cells, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC et al.
Ophthalmic Genetics, 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
A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin.
Deshpande AA et al.
Scientific Reports, 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
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.
Al-Haggar M
World Journal of Nephrology, 2013
Molecular and cellular basis of lysosomal transmembrane protein dysfunction.
Ruivo R et al.
Biochimica Et Biophysica Acta, 2009
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
New aspects of the pathogenesis of cystinosis.
Kalatzis V et al.
Pediatric Nephrology (berlin, Germany), 2003
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V et al.
Human Mutation, 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
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Anikster Y et al.
Pediatric Research, 2000
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0