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No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.
Olschok K, Vester U, Lahme S, Kurth I, Eggermann T. Olschok K, et al. BMC Nephrol. 2018 Oct 20;19(1):278. doi: 10.1186/s12882-018-1080-5. BMC Nephrol. 2018. PMID: 30342472 Free PMC article.
METHODS: We screened a cohort of 17 cystinuria patients for SLC7A13 variants which were negative for SLC3A1 and SLC7A9 mutations. RESULTS: Despite strong evidences for an involvement of SLC7A13 mutations in cystinuria, we could not confirm a relevant role of SLC7
METHODS: We screened a cohort of 17 cystinuria patients for SLC7A13 variants which were negative for SLC3A1 and SLC7A9 mutations. RES …
Integrated single-nucleus sequencing and spatial architecture analysis identified distinct injured-proximal tubular types in calculi rats.
Wang Z, Deng Q, Gu Y, Li M, Chen Y, Wang J, Zhang Y, Zhang J, Hu Q, Zhang S, Chen W, Chen Z, Li J, Wang X, Liang H. Wang Z, et al. Cell Biosci. 2023 May 19;13(1):92. doi: 10.1186/s13578-023-01041-3. Cell Biosci. 2023. PMID: 37208718 Free PMC article.
RESULTS: We identified 3 distinct injured-proximal tubular cell types based on the differentially expression injury markers (Havcr1 and lcn2) and functional solute carriers (slc34a3, slc22a8, slc38a3 and slc7a13), and characterized 4 main immune cell types in kidney and on …
RESULTS: We identified 3 distinct injured-proximal tubular cell types based on the differentially expression injury markers (Havcr1 and lcn2 …
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.
This will also be essential in elucidating the role of promising candidate genes, such as SLC7A13 (AGT1), which have been derived from murine model systems and still need further research to determine if they are involved in human cystinuria. ...
This will also be essential in elucidating the role of promising candidate genes, such as SLC7A13 (AGT1), which have been derived fro …
Regulation Networks of Non-Coding RNA-Associated ceRNAs in Cisplatin-Induced Acute Kidney Injury.
Ding Y, Wan S, Liu W, Lu Y, Xu Q, Gan Y, Yan L, Gu Y, Liu Z, Hu Y, Cao H, Shao F. Ding Y, et al. Cells. 2022 Sep 23;11(19):2971. doi: 10.3390/cells11192971. Cells. 2022. PMID: 36230932 Free PMC article.
We performed gene set enrichment analysis to reveal the biological functions of the mRNAs and constructed non-coding RNA-associated ceRNA networks in CP-AKI mice. Two ceRNA regulatory pathways, Lhx1os-203/mmu-miR-21a-3p/Slc7a13 and circular RNA_3907/mmu-miR-185-3p/Ptprn, w …
We performed gene set enrichment analysis to reveal the biological functions of the mRNAs and constructed non-coding RNA-associated ceRNA ne …
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Mayayo-Vallverdú C, Prat E, Vecino-Pérez M, González L, Gràcia-Garcia S, San Miguel L, Lopera N, Arias A, Artuch R, López de Heredia M, Torrecilla C, Rousaud-Barón F, Angerri O, Errasti-Murugarren E, Nunes V. Mayayo-Vallverdú C, et al. Int J Mol Sci. 2023 Dec 5;24(24):17140. doi: 10.3390/ijms242417140. Int J Mol Sci. 2023. PMID: 38138969 Free PMC article.
In 2016, a second renal cystine transporter, AGT1, encoded by the SLC7A13 gene, was discovered. Although it was discarded as a causative gene for cystinuria, its possible effect as a modulatory gene remains unexplored. Thus, we analyzed its function in mouse models of cyst …
In 2016, a second renal cystine transporter, AGT1, encoded by the SLC7A13 gene, was discovered. Although it was discarded as a causat …
Establishment of a Ciliogenesis-Associated Signaling Model for Polycystic Kidney Disease.
Lu L, Liu Q, Zhi L, Che X, Xiao B, Cui M, Yu M, Yang B, Zhang J, Zhang B. Lu L, et al. Kidney Blood Press Res. 2021;46(6):693-701. doi: 10.1159/000517408. Epub 2021 Sep 1. Kidney Blood Press Res. 2021. PMID: 34469896 Free article.
RESULTS: In this study, we established a comprehensive differentially expressed genes profile (including GNAS, PI4KB, UMOD, SLC7A13, and MIOX) for PKD patients compared with the control specimen. ...
RESULTS: In this study, we established a comprehensive differentially expressed genes profile (including GNAS, PI4KB, UMOD, SLC7A13, …
Channels, transporters and receptors for cadmium and cadmium complexes in eukaryotic cells: myths and facts.
Thévenod F, Fels J, Lee WK, Zarbock R. Thévenod F, et al. Biometals. 2019 Jun;32(3):469-489. doi: 10.1007/s10534-019-00176-6. Epub 2019 Jan 30. Biometals. 2019. PMID: 30701379
At toxicologically relevant concentrations in the submicromolar range, Cd(2+) permeates voltage-dependent Ca(2+) channels ("T-type" Ca(V)3.1, CatSper), transient receptor potential (TRP) channels (TRPA1, TRPV5/6, TRPML1), solute carriers (SLCs) (DMT1/SLC11A2, ZIP8/SLC39A8, ZIP14/ …
At toxicologically relevant concentrations in the submicromolar range, Cd(2+) permeates voltage-dependent Ca(2+) channels ("T-type" Ca(V)3.1 …
Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.
Nagamori S, Wiriyasermkul P, Guarch ME, Okuyama H, Nakagomi S, Tadagaki K, Nishinaka Y, Bodoy S, Takafuji K, Okuda S, Kurokawa J, Ohgaki R, Nunes V, Palacín M, Kanai Y. Nagamori S, et al. Proc Natl Acad Sci U S A. 2016 Jan 19;113(3):775-80. doi: 10.1073/pnas.1519959113. Epub 2016 Jan 6. Proc Natl Acad Sci U S A. 2016. PMID: 26739563 Free PMC article.
In this study, by means of coimmunoprecipitation followed by mass spectrometry, we have found that a membrane protein AGT1/SLC7A13 is the second partner of rBAT. AGT1 is localized in the apical membrane of the S3 segment, where it forms a heterodimer with rBAT. ...
In this study, by means of coimmunoprecipitation followed by mass spectrometry, we have found that a membrane protein AGT1/SLC7A13 is …
Detection of runs of homozygosity in conserved and commercial pig breeds in Poland.
Szmatoła T, Jasielczuk I, Semik-Gurgul E, Szyndler-Nędza M, Blicharski T, Szulc K, Skrzypczak E, Gurgul A. Szmatoła T, et al. J Anim Breed Genet. 2020 Nov;137(6):571-580. doi: 10.1111/jbg.12482. Epub 2020 May 3. J Anim Breed Genet. 2020. PMID: 32362048
The genome regions with ROH hotspots overlapping in all analysed populations, located on SSC4 (51.9-55.9 Mb) and 13 (92.6-97.8 Mb), covered thirty-one different genes, including MMP16, SLC7A13, ATP6V0D2, CNGB3, WWiP1, RiMDN1 and CPNE3. These genes are primarily associated …
The genome regions with ROH hotspots overlapping in all analysed populations, located on SSC4 (51.9-55.9 Mb) and 13 (92.6-97.8 Mb), covered …
18 results