Associated Papers
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
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
The Ectodomains of rBAT and 4F2hc Are Fake or Orphan α-Glucosidases.
Fort J et al.
Molecules (basel, Switzerland), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.
Pandey B et al.
Journal of Biomolecular Structure & Dynamics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 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
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.
Alghamdi M et al.
Frontiers in Pediatrics, 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
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.
Markazi S et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
Markazi S et al.
Iranian Journal of Kidney Diseases, 2016
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Athanasiou Y et al.
Genetic Testing and Molecular Biomarkers, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.
Bourderioux M et al.
Journal of Proteome Research, 2015
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
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
Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.
Voskarides K et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
Bartoccioni P et al.
Human Molecular Genetics, 2008
Evaluation of cystine transport in cultured human kidney cells and establishment of cystinuria type I phenotype by antisense technology.
Wendt-Nordahl G et al.
Urological Research, 2008
Type I cystinuria and its genetic basis in a population of Turkish school children.
Tanzer F et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2007
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Analysis of a 1-year-old cystinuric patient with recurrent renal stones.
Tanzer F et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2006
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes M et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005