Associated Papers
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Wu CW et al.
Urolithiasis, 2023
Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.
Halalsheh OM et al.
Annals of Medicine and Surgery (2012), 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.
Castro-Sánchez S et al.
Plos One, 2017
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria.
Lahme S et al.
Urologia Internationalis, 2002
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
Harnevik L et al.
Human Mutation, 2001
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
Endsley JK et al.
Kidney International, 1997
The molecular basis of cystinuria: an update.
Goodyer P et al.
Experimental Nephrology, 0
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