Associated Papers
Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.
Lee B et al.
Urolithiasis, 2023
Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.
Lee Y et al.
Nature Communications, 2022
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
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M et al.
Clinical Genetics, 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
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
[SLC7A9 gene variation: impact of 13 frequent mutations in the etiology of cystinuria in a Spanish Mediterranean population].
Francés F et al.
Medicina Clinica, 2006
SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.
Harnevik L et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2006
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Font-Llitjós M et al.
Journal of Medical Genetics, 2005
Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.
Chatzikyriakidou A et al.
Genetic Testing, 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
Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls.
Sidi R et al.
The Israel Medical Association Journal : Imaj, 2003
Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Harnevik L et al.
Genetic Testing, 2003
Molecular pathophysiology of tubular transport disorders.
Zelikovic I
Pediatric Nephrology (berlin, Germany), 2001
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA et al.
Human Molecular Genetics, 2001
Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene.
Colombo R
Genomics, 2000
Heteromeric amino acid transporters explain inherited aminoacidurias.
Palacín M et al.
Current Opinion in Nephrology and Hypertension, 2000
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L et al.
Nature Genetics, 1999
Pathogenesis and medical management of cystinuria.
Sakhaee K
Seminars in Nephrology, 1996
The molecular basis of cystinuria: an update.
Goodyer P et al.
Experimental Nephrology, 0