Associated Papers
Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.
Sakamoto S et al.
Scientific Reports, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.
Jeong JY et al.
Biomedicines, 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
Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.
Lee B et al.
Urolithiasis, 2023
Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan R et al.
Urolithiasis, 2022
Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.
Lee Y et al.
Nature Communications, 2022
A case of early onset cystinuria in a 4-month-old girl.
Ikeyama S et al.
Cen Case Reports, 2022
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M et al.
Renal Failure, 2021
Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone.
Okada T et al.
Urology Case Reports, 2021
Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.
Mamlouk S et al.
Bmc Biology, 2020
Cystinuria: genetic aspects, mouse models, and a new approach to therapy.
Sahota A et al.
Urolithiasis, 2019
Pediatric Cystinuria Patient With Novel Mutation in SLC3A1.
Watanabe Y et al.
Global Pediatric Health, 2019
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
Kim JH et al.
Journal of Korean Medical Science, 2017
A case of cystinuria presenting with cerebellar ataxia and dementia.
Tohge R et al.
Practical Neurology, 2016
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Cystinuria: an inborn cause of urolithiasis.
Eggermann T et al.
Orphanet Journal of Rare Diseases, 2012
Pathophysiology and treatment of cystinuria.
Chillarón J et al.
Nature Reviews. Nephrology, 2010
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Bisceglia L et al.
Molecular Genetics and Metabolism, 2010
A novel role of the C-terminus of b 0,+ AT in the ER-Golgi trafficking of the rBAT-b 0,+ AT heterodimeric amino acid transporter.
Sakamoto S et al.
The Biochemical Journal, 2009
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.
Lotan D et al.
The Israel Medical Association Journal : Imaj, 2007
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Shigeta Y et al.
Kidney International, 2006
The SLC3 and SLC7 families of amino acid transporters.
Fotiadis D et al.
Molecular Aspects of Medicine, 0