Associated Papers
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
Cystinosis and two rare mutations in CTNS gene: two case reports.
Gholami Yarahmadi S et al.
Journal of Medical Case Reports, 2022
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
Select a paper to view details