Associated Papers
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Wang X et al.
Kidney International Reports, 2025
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
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
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
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
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
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
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
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: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin.
Malakauskas SM et al.
American Journal of Physiology. Renal Physiology, 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
Heterodimeric amino acid transporter glycoprotein domains determining functional subunit association.
Franca R et al.
The Biochemical Journal, 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
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
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
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Schmidt C et al.
Urological Research, 2004