Associated Papers
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 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
Structure and mechanism of human cystine exporter cystinosin.
Guo X et al.
Cell, 2022
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
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
Select a paper to view details