Condition: Cystinuria


rs121912695 in PREPL;SLC3A1 gene and Cystinuria PMID 7575432 1995 Mutations of the basic amino acid transporter gene associated with cystinuria.

PMID 19782624 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.

PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 10738006 2000 Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PMID 11748844 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 8054986 1994 Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PMID 22493502 2012 Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.

PMID 28717662 2017 Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

PMID 26537754 2016 The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.

PMID 20517292 2010 Pathophysiology and treatment of cystinuria.

rs121912691 in SLC3A1 gene and Cystinuria PMID 17010017 2006 Analysis of a 1-year-old cystinuric patient with recurrent renal stones.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 23532419 2013 Molecular characterization of cystinuria in south-eastern European countries.

PMID 11748844 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 15691362 2005 Association analyses revealed that 231T > A (M467T), 1136 + 3delT and 1332 + 7T > C genetic variants were statistically related with urinary amino acid excretion in cystinuria patients.

PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 7575432 1995 Mutations of the basic amino acid transporter gene associated with cystinuria.

PMID 8054986 1994 Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PMID 19782624 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.

PMID 18332091 2008 Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.

PMID 9083097 1997 An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.

PMID 14991253 2004 The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

PMID 21677404 2011 Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

PMID 17880288 2007 Type I cystinuria and its genetic basis in a population of Turkish school children.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 21255007 2012 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

PMID 10738006 2000 Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PMID 8792820 1996 Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PMID 28646536 2017 Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

PMID 25296721 2015 Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.

PMID 25964309 2015 Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

PMID 25109415 2015 The genetic diversity of cystinuria in a UK population of patients.

PMID 9768685 1998 Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria.

PMID 18704508 2009 An antenatal hyper-echogenic colon: question.

PMID 16225397 2005 Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.

PMID 11260385 2001 Cystinuria type I: identification of eight new mutations in SLC3A1.

PMID 15691362 2005 Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.

PMID 18947684 2006 Identification of novel cystinuria mutations in pediatric patients.

rs121912693 in SLC3A1;PREPL gene and Cystinuria PMID 7575432 1995 Mutations of the basic amino acid transporter gene associated with cystinuria.

PMID 8054986 1994 Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 10738006 2000 Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PMID 19782624 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.

PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 11748844 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.

rs1085307095 in SLC7A9 gene and Cystinuria PMID 15635077 2005 New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PMID 15670723 2005 Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.

PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PMID 10471498 1999 Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

PMID 19782624 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.

PMID 12371955 2002 SLC7A9 mutations in all three cystinuria subtypes.

PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PMID 11157794 2001 Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

PMID 18752446 2008 Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PMID 12820697 2003 Mutation analysis of SLC7A9 in cystinuria patients in Sweden.

PMID 21863055 2012 Clinical utility gene card for: Cystinuria.

PMID 26123750 2015 Thirty unrelated cystinuria patients were analyzed for four of the most common mutations using ARMS-PCR (M467T, T216M) and RFLP-PCR (G105R, R333W) methods.

PMID 25964309 2015 Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

PMID 25296721 2015 Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

PMID 21255007 2012 Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

PMID 22480232 2012 Cystinuria: an inborn cause of urolithiasis.

PMID 12234930 2002 The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit.

PMID 25109415 2015 The genetic diversity of cystinuria in a UK population of patients.

PMID 28812535 2017 Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

PMID 17539912 2007 Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

PMID 28717662 2017 Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.