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Page 1
Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.
Sakamoto S, Naya Y, Rii J, Taguchi K, Fujimura M, Shigeta Y, Chairoungdua A, Nishimura M, Wakai K, Yamada Y, Zhao X, Imamura Y, Tajima S, Sato N, Hosaka C, Sekine M, Ueda T, Hamamoto S, Yasui T, Kanai Y, Akakura K, Ikehara Y, Anzai N, Ichikawa T. Sakamoto S, et al. Sci Rep. 2025 Sep 26;15(1):33066. doi: 10.1038/s41598-025-14240-4. Sci Rep. 2025. PMID: 41006421 Free PMC article.
Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b(0,+)AT will cause Cystinuria. ...Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 was performed by nex …
Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBA …
Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan R, Ge Y, Liu Y, Zhao Z, Wang W. Zhan R, et al. Urolithiasis. 2022 Dec 26;51(1):20. doi: 10.1007/s00240-022-01398-z. Urolithiasis. 2022. PMID: 36571637
Patients with SLC7A9 mutations were more likely to develop bilateral stones than those with SLC3A1 mutations (100% vs. 33.3%, p = 0.03). Thirty-four SLC3A1 gene mutations and twenty-eight SLC7A9 gene mutations were found in a total of fifty-five Chinese children wit …
Patients with SLC7A9 mutations were more likely to develop bilateral stones than those with SLC3A1 mutations (100% vs. 33.3%, p = 0.0 …
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. Lee B, et al. Urolithiasis. 2023 Jul 13;51(1):94. doi: 10.1007/s00240-023-01466-y. Urolithiasis. 2023. PMID: 37439839 Free PMC article.
Cystinuria is a genetic disorder caused by defects in the b(0,+) transporter system, which is composed of rBAT and b(0,+)AT coded by SLC3A1 and SLC7A9, respectively. Variants in SLC3A1 and SLC7A9 follow autosomal recessive inheritance and autosomal dominant inherita …
Cystinuria is a genetic disorder caused by defects in the b(0,+) transporter system, which is composed of rBAT and b(0,+)AT coded by SLC3 …
The genetics of cystinuria - an update and critical reevaluation.
Abad Baucells C, Schönauer R, Halbritter J. Abad Baucells C, et al. Curr Opin Nephrol Hypertens. 2024 Mar 1;33(2):231-237. doi: 10.1097/MNH.0000000000000949. Epub 2023 Nov 6. Curr Opin Nephrol Hypertens. 2024. PMID: 38240263 Review.
RECENT FINDINGS: Novel tools such as AlphaMissense combined with the establishment of a refined ACMG criterion will play a significant role in classifying VUS within the responsible disease genes SLC3A1 (rBAT) and SLC7A9 (BAT1). This will also be essential in elucidating t …
RECENT FINDINGS: Novel tools such as AlphaMissense combined with the establishment of a refined ACMG criterion will play a significant role …
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. Wu CW, et al. Urolithiasis. 2023 Aug 10;51(1):101. doi: 10.1007/s00240-023-01473-z. Urolithiasis. 2023. PMID: 37561200
BACKGROUND: Cystine stone is a Mendelian genetic disease caused by SLC3A1 or SLC7A9. In this study, we aimed to estimate the genetic prevalence of cystine stones and compare it with the clinical prevalence to better understand the disease etiology. METHODS: We analyzed gen …
BACKGROUND: Cystine stone is a Mendelian genetic disease caused by SLC3A1 or SLC7A9. In this study, we aimed to estimate the genetic …
Integrated Analysis of Lactate-Related Genes Identifies S100A4 as a Novel Marker Promoting the Migration and Invasion of Endometrial Stromal Cell in Endometriosis.
Wang X, Chen Y, Wu Q, Wang X, Wu Y, Liu H. Wang X, et al. Reprod Sci. 2025 Aug;32(8):2558-2573. doi: 10.1007/s43032-025-01914-7. Epub 2025 Jul 10. Reprod Sci. 2025. PMID: 40640588
In this study, we employed differential expression analysis to identify differentially expressed genes in endometriosis patients, and used Least Absolute Shrinkage and Selection Operator (LASSO) regression and Random Forest (RF) for feature selection and model construction. Five …
In this study, we employed differential expression analysis to identify differentially expressed genes in endometriosis patients, and used L …
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. Liu D, et al. BMC Med Genomics. 2023 Dec 19;16(1):333. doi: 10.1186/s12920-023-01767-6. BMC Med Genomics. 2023. PMID: 38114997 Free PMC article.
BACKGROUND: Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms based on the genotype: type A, due to mutations in …
BACKGROUND: Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutati …
Host-gut microbial metabolic crosstalk in postpartum depression: A multiomics insight linking blood metabolites to epigenetic modulation.
Zhang Z, Hu X, Tao W, Ma R, Zheng Y, Fang X, Gao J, Xu Z. Zhang Z, et al. J Affect Disord. 2026 May 1;400:121166. doi: 10.1016/j.jad.2026.121166. Epub 2026 Jan 9. J Affect Disord. 2026. PMID: 41519171
Integrating eQTL and mQTL data, SMR revealed seven blood tissue genes (RAF1, KHK, SLC3A1, FAM3B, ALDH7A1, FDXR, and GATM) as potential causal genes for PPD and implicated specific DNA methylation sites in their regulation. Colocalization analysis revealed that FDXR, RAF1, …
Integrating eQTL and mQTL data, SMR revealed seven blood tissue genes (RAF1, KHK, SLC3A1, FAM3B, ALDH7A1, FDXR, and GATM) as potentia …
Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation.
Liu L, Xu Z, Guan Y, Zhang Y, Li X, Ren Y, Hu L, Yan X. Liu L, et al. Genes (Basel). 2022 Nov 21;13(11):2173. doi: 10.3390/genes13112173. Genes (Basel). 2022. PMID: 36421847 Free PMC article.
Gene screens have found that mutations in SLC3A1 or SLC7A9 gene are responsible for most cases of cystinuria, for encoding defective cystine transporters. ...In this article, we reported novel compound heterozygous mutations (c.818G>A and c.1011G>A) of the SLC3A1 …
Gene screens have found that mutations in SLC3A1 or SLC7A9 gene are responsible for most cases of cystinuria, for encoding defective …
The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones.
Wilfred Wu CH, Patel I, Lovrenert K, Eisner B, Meeks N, Chun-Hui Tsai A, Baum M, Berry G, Schumacher FR. Wilfred Wu CH, et al. Genet Med. 2025 Jan;27(1):101281. doi: 10.1016/j.gim.2024.101281. Epub 2024 Sep 21. Genet Med. 2025. PMID: 39315525 Free PMC article.
PURPOSE: Cystine stones, an autosomal recessive disorder caused by cystinuria, result from pathogenic variants of SLC3A1 and SLC7A9. Previous publications revealed that clinical prevalence is higher than genetically predicted prevalence. ...CONCLUSION: Statistical testing …
PURPOSE: Cystine stones, an autosomal recessive disorder caused by cystinuria, result from pathogenic variants of SLC3A1 and SLC7A9. …
21 results