| Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria. | Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.
Liu D, Zhao Y, Xue X, Hou X, Xu H, Zhao X, Tian Y, Tang W, Guo J, Xu C., Free PMC Article | 12/29/2023 |
| Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability. | Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.
Lee B, Lee SY, Han DH, Park HD., Free PMC Article | 09/1/2023 |
| Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. | Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Wu CW, Badreddine J, Chang J, Huang YM, Kim FJ, Wild T, Tsai AC, Meeks N, Donalisio Da Silva R, Molina WR, Schumacher FR. | 08/11/2023 |
| Clinical profile of a Polish cohort of children and young adults with cystinuria. | Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M, Gadomska-Prokop K, Załuska-Leśniewska I, Musiał K, Zawadzki J, Jobs K, Porowski T, Rogowska-Kalisz A, Jander A, Kirolos M, Haliński A, Krzemień A, Sobieszczańska-Droździel A, Zachwieja K, Beck BB, Sikora P, Zaniew M., Free PMC Article | 09/4/2021 |
| Structural basis for amino acid exchange by a human heteromeric amino acid transporter. | Structural basis for amino acid exchange by a human heteromeric amino acid transporter.
Wu D, Grund TN, Welsch S, Mills DJ, Michel M, Safarian S, Michel H., Free PMC Article | 10/24/2020 |
| A homozygous c.325G>A mutation in cationic amino cid transport proteins (SLC7A9) was identified in two patients, and six neutral and basic amino acid transporter protein (SLC3A1) mutations were found in five patients. | Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.
Ma YY, Liu YP, Li D, Li XY, Song JQ, Yang YL. | 10/19/2019 |
| Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Four deleterious mutation (R362C, T216M, M467K/T) in the coding region of SLC3A1 were identified. The intron variant c.1136+2/3delT in SLC3A1 gene probably affected the splicing process. | In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Mahdavi M, Koulivand L, Khorrami M, Mirsafaie M, Kheirollahi M. | 11/3/2018 |
| Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated | Clinical and genetic characterization of Chinese pediatric cystine stone patients.
Shen L, Cong X, Zhang X, Wang N, Zhou P, Xu Y, Zhu Q, Gu X. | 08/11/2018 |
| Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described. | Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I, Royer N, Nicolas M, Bourillon A, Czerkiewicz I, Becker PH, Muller F, Benoist JF. | 07/7/2018 |
| Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria. | Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ, Wong KA, Martin JF, Kassam Z, Thomas K, Wass MN., Free PMC Article | 03/10/2018 |
| In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8). | Delineation of cystinuria in Saudi Arabia: A case series.
Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT, Alfadhel M., Free PMC Article | 11/25/2017 |
| Here, the authors report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine carrier, tightly correlated with clinical stages and patients' survival. Elevated SLC3A1 expression accelerated the cysteine uptake and the accumulation of reductive glutathione (GSH), leading to reduced reactive oxygen species (ROS). | Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis.
Jiang Y, Cao Y, Wang Y, Li W, Liu X, Lv Y, Li X, Mi J., Free PMC Article | 10/28/2017 |
| We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients. | A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
Markazi S, Kheirollahi M, Doosti A, Mohammadi M, Koulivand L. | 11/12/2016 |
| Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients | Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Athanasiou Y, Voskarides K, Chatzikyriakidou A, Ignatiou A, Demosthenous P, Elia A, Zavros M, Georgiou I, Pierides A, Deltas C. | 09/24/2016 |
| Deletion of the rBAT C-terminal disulfide loop (residues 673-685) prevented maturation and prompted degradation of the transporter. | The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.
Rius M, Sala L, Chillarón J. | 06/28/2016 |
| M467T, T216M mutations not found in Iranian cystinuria patients | Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
Koulivand L, Mohammadi M, Ezatpour B, Salehi R, Markazi S, Dashti S, Kheirollahi M. | 06/28/2016 |
| Report no association of SLC3A1 mutations with clinical course of disease in cystinuria patients. | Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ., Free PMC Article | 04/9/2016 |
| We present a new pathogenic homozygous mutation, c.833T>C in exon 4 of SLC3A1 gene, in a girl with cystinuria, whose single symptom was an increasingly hyper-echogenic colon in the prenatal sonography as of 30 weeks of gestation. | Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).
Buxmann H, Eggermann T, Lorenz D, Sewell AC, Böhles H, Schlößer RL, Merz E. | 08/22/2015 |
| RBAT gene products, as the primary cause of cystinuria, may function as activators of the amino acid transport system in renal brush border membrane. | Role of rBAT gene products in cystinuria.
Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Takada K, Yamamoto H, Taketani Y, Morita K, Kanayama H, Kagawa S, Takeda E. | 08/16/2014 |
| We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B). | Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U. | 08/9/2014 |
| Deletion of SLC3A1 is associated with Hypotonia-cystinuria syndrome. | Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A. | 10/19/2013 |
| Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients. | Two novel deletions in hypotonia-cystinuria syndrome.
Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J. | 03/30/2013 |
| In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants are found in cystinuria patients. | Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. | 04/7/2012 |
| Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9. | 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, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L, Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L. | 05/3/2010 |
| Observational study of genetic testing. (HuGE Navigator) | 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, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L, Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L. | 12/2/2009 |