Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
41100445 (PubMed )
Supplement: pgen.1011876.s002.pdf
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
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
37561577 (PubMed )
Supplement: jci-133-169551-s166.pdf
Structural basis for proton coupled cystine transport by cystinosin.
Löbel M et al.
Nature Communications, 2022
35977944 (PubMed )
Supplement: 41467_2022_32589_MOESM1_ESM.pdf
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
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
McGowan-Jordan J et al.
European Journal of Human Genetics : Ejhg, 1999
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