Associated Papers
Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.
Mathew V et al.
Pediatric Nephrology (berlin, Germany), 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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
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
35977944 (PubMed )
Supplement: 41467_2022_32589_MOESM1_ESM.pdf
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
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
A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin.
Deshpande AA et al.
Scientific Reports, 2018
Molecular Analysis of the CTNS Gene in Indians with Nephropathic Cystinosis.
Deshpande AA et al.
Indian Journal of Pediatrics, 2017
Common mutation causes cystinosis in the majority of black South African patients.
Owen EP et al.
Pediatric Nephrology (berlin, Germany), 2015
Characterization of CTNS mutations in Arab patients with cystinosis.
Aldahmesh MA et al.
Ophthalmic Genetics, 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
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