Associated Papers
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Mayayo-Vallverdú C et al.
International Journal of Molecular Sciences, 2023
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.
Jeong JY et al.
Biomedicines, 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
HATs meet structural biology.
Rullo-Tubau J et al.
Current Opinion in Structural Biology, 2022
Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.
Lee Y et al.
Nature Communications, 2022
The Ectodomains of rBAT and 4F2hc Are Fake or Orphan α-Glucosidases.
Fort J et al.
Molecules (basel, Switzerland), 2021
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Cryo-EM structure of the human heteromeric amino acid transporter b0,+AT-rBAT.
Yan R et al.
Science Advances, 2020
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.
Li C et al.
Frontiers in Genetics, 2020
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Mahdavi M et al.
Molecular Biology Reports, 2018
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
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
A Novel Mutation in SLC7A9 Gene in Cystinuria.
Fazaeli S et al.
Iranian Journal of Kidney Diseases, 2017
Delineation of cystinuria in Saudi Arabia: A case series.
Obaid A et al.
Bmc Nephrology, 2017
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
Kim JH et al.
Journal of Korean Medical Science, 2017
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.
Rius M et al.
The Biochemical Journal, 2016
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Athanasiou Y et al.
Genetic Testing and Molecular Biomarkers, 2015
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
Koulivand L et al.
Urolithiasis, 2015
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
Cystinuria: an inborn cause of urolithiasis.
Eggermann T et al.
Orphanet Journal of Rare Diseases, 2012
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M et al.
Clinical Genetics, 2012
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.
Gucev Z et al.
Journal of Genetics, 2011
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
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Chatzikyriakidou A et al.
Molecular Genetics and Metabolism, 2008
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
Bartoccioni P et al.
Human Molecular Genetics, 2008
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
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Louizou E et al.
Human Genetics, 2007
Identification of novel cystinuria mutations in pediatric patients.
Brauers E et al.
Journal of Pediatric Urology, 2006
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Yuen YP et al.
Kidney International, 2006
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
Skopková Z et al.
Annals of Human Genetics, 2005