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Page 1
The pathophysiology of distal renal tubular acidosis.
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S. Wagner CA, et al. Nat Rev Nephrol. 2023 Jun;19(6):384-400. doi: 10.1038/s41581-023-00699-9. Epub 2023 Apr 4. Nat Rev Nephrol. 2023. PMID: 37016093 Review.
Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and probably in other genes that are yet to be discovered. ...
Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and probably in other genes that are yet t …
High ATP6V1B1 expression is associated with poor prognosis and platinum-based chemotherapy resistance in epithelial ovarian cancer.
Han GH, Yun H, Chung JY, Kim JH, Cho H. Han GH, et al. Oncol Rep. 2023 May;49(5):102. doi: 10.3892/or.2023.8539. Epub 2023 Mar 31. Oncol Rep. 2023. PMID: 36999629 Free PMC article.
Furthermore, the biological role of ATP6V1B1 in ovarian cancer cell lines was also assessed. RNA sequencing and public dataset analyses revealed elevated ATP6V1B1 mRNA levels in EOCs. ...High expression levels of ATP6V1B1 were also associated with poor overal …
Furthermore, the biological role of ATP6V1B1 in ovarian cancer cell lines was also assessed. RNA sequencing and public dataset analys …
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.
Dahmani M, Talbi S, Ammar-Khodja F, Ouhab S, Boudjenah F, Djebbar M, Bonnet C, Petit C. Dahmani M, et al. Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109772. doi: 10.1016/j.ijporl.2019.109772. Epub 2019 Nov 9. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31733597
Notably, mutations of ATP6V1B1 gene, which encode B1-subunit of H + -ATPase pump cause distal renal tubular acidosis often, associated with sensorineural hearing loss (SNHL). ...The ATP6V1B1 gene was preferentially analyzed in all these patients by Sanger sequencing …
Notably, mutations of ATP6V1B1 gene, which encode B1-subunit of H + -ATPase pump cause distal renal tubular acidosis often, associate …
ATP6V1B1 regulates ovarian cancer progression and cisplatin sensitivity through the mTOR/autophagy pathway.
Mo S, Liu T, Zhou H, Huang J, Zhao L, Lu F, Kuang Y. Mo S, et al. Mol Cell Biochem. 2025 Feb;480(2):1013-1026. doi: 10.1007/s11010-024-05025-w. Epub 2024 May 12. Mol Cell Biochem. 2025. PMID: 38735913 Free PMC article.
In addition, knocking down ATP6V1B1 increases the sensitivity of ovarian cancer cells to cisplatin. Mechanistic studies showed that ATP6V1B1 regulates the activation of the mTOR/autophagy pathway. Overall, our study confirmed the oncogenic role of ATP6V1B1 in …
In addition, knocking down ATP6V1B1 increases the sensitivity of ovarian cancer cells to cisplatin. Mechanistic studies showed that …
Downregulated ATP6V1B1 expression acidifies the intracellular environment of cancer cells leading to resistance to antibody-dependent cellular cytotoxicity.
Nishie M, Suzuki E, Hattori M, Kawaguch K, Kataoka TR, Hirata M, Pu F, Kotake T, Tsuda M, Yamaguchi A, Sugie T, Toi M. Nishie M, et al. Cancer Immunol Immunother. 2021 Mar;70(3):817-830. doi: 10.1007/s00262-020-02732-3. Epub 2020 Sep 30. Cancer Immunol Immunother. 2021. PMID: 33000417 Free PMC article.
Thus, to functionally characterize ATP6V1B1, we used a CRISPR/Cas9 system to generate ATP6V1B1-knockout SKBR3 and JIMT-1 cells (both HER2 + human breast cancer cell line). The resulting cells exhibited significantly less ADCC than the control SKBR3 and JIMT-1 cells. …
Thus, to functionally characterize ATP6V1B1, we used a CRISPR/Cas9 system to generate ATP6V1B1-knockout SKBR3 and JIMT-1 cells …
The B1 H + -ATPase ( Atp6v1b1 ) Subunit in Non-Type A Intercalated Cells is Required for Driving Pendrin Activity and the Renal Defense Against Alkalosis.
Bourgeois S, Kovacikova J, Bugarski M, Bettoni C, Gehring N, Hall A, Wagner CA. Bourgeois S, et al. J Am Soc Nephrol. 2024 Jan 1;35(1):7-21. doi: 10.1681/ASN.0000000000000259. Epub 2023 Nov 22. J Am Soc Nephrol. 2024. PMID: 37990364 Free PMC article.
METHODS: We examined the responses of Atp6v1b1-/- and Atp6v1b1+/+ mice to an alkali load and to chronic treatment with furosemide. RESULTS: An alkali load or 1 week of furosemide resulted in a more pronounced hypokalemic alkalosis in male ATP6v1b1-/- versus …
METHODS: We examined the responses of Atp6v1b1-/- and Atp6v1b1+/+ mice to an alkali load and to chronic treatment with furosem …
Genetic and clinical profile of patients with hypophosphatemic rickets.
Marik B, Bagga A, Sinha A, Khandelwal P, Hari P, Sharma A. Marik B, et al. Eur J Med Genet. 2022 Aug;65(8):104540. doi: 10.1016/j.ejmg.2022.104540. Epub 2022 Jun 21. Eur J Med Genet. 2022. PMID: 35738466
WES revealed 36 pathogenic and 28 likely pathogenic variants in 16 different genes (PHEX, FGF23, DMP1, ENPP1, CLCN5, CTNS, SLC2A2, GATM, SLC34A1, EHHADH, SLC4A1, ATP6V1B1, ATP6V0A4, CYP27B1, VDR and FGFR1) in 63 patients which helped differentiate between the various forms …
WES revealed 36 pathogenic and 28 likely pathogenic variants in 16 different genes (PHEX, FGF23, DMP1, ENPP1, CLCN5, CTNS, SLC2A2, GATM, SLC …
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG, Arroyo J, Shah RJ, Reese KJ, Walton BN, Reynolds LM, Kennedy GN, Seide BM, Senum SR, Baum M, Erickson SB, Jagadeesh S, Soliman NA, Goldfarb DS, Beara-Lasic L, Edvardsson VO, Palsson R, Milliner DS, Sas DJ, Lieske JC, Harris PC; Investigators of the Rare Kidney Stone Consortium. Cogal AG, et al. Kidney Int Rep. 2021 Sep 8;6(11):2862-2884. doi: 10.1016/j.ekir.2021.08.033. eCollection 2021 Nov. Kidney Int Rep. 2021. PMID: 34805638 Free PMC article.
Recurrent genes included the following: SLC34A3 (n = 13), CLDN16 (n = 8), CYP24A1 (n = 4), SLC34A1 (n = 3), SLC4A1 (n = 3), APRT (n = 2), CLDN19 (n = 2), HNF4A1 (n = 2), and KCNJ1 (n = 2), whereas ATP6V1B1, CASR, and SLC12A1 and missed CNVs in the PH genes AGXT and GRHPR a …
Recurrent genes included the following: SLC34A3 (n = 13), CLDN16 (n = 8), CYP24A1 (n = 4), SLC34A1 (n = 3), SLC4A1 (n = 3), APRT (n = 2), CL …
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
Subasioglu Uzak A, Cakar N, Comak E, Yalcinkaya F, Tekin M. Subasioglu Uzak A, et al. Ren Fail. 2013 Oct;35(9):1281-4. doi: 10.3109/0886022X.2013.824362. Epub 2013 Aug 7. Ren Fail. 2013. PMID: 23923981 Free PMC article.
Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis. Mutations in ATP6V1B1 cause DRTA associated with sens …
Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hyp …
Haploinsufficiency of the Mouse Atp6v1b1 Gene Leads to a Mild Acid-Base Disturbance with Implications for Kidney Stone Disease.
Bourgeois S, Bettoni C, Baron S, Wagner CA. Bourgeois S, et al. Cell Physiol Biochem. 2018;47(3):1095-1107. doi: 10.1159/000490186. Epub 2018 May 25. Cell Physiol Biochem. 2018. PMID: 29843146 Free article.
In humans, heterozygous carriers of B1 mutations can develop incomplete dRTA with nephroclacinosis. Here, we investigated whether Atp6v1b1+/- mice also develop acid-base disturbances during an HCl acid load. METHODS: We subjected Atp6v1b1+/+, Atp6v1b1+/-, …
In humans, heterozygous carriers of B1 mutations can develop incomplete dRTA with nephroclacinosis. Here, we investigated whether Atp6v1b …
172 results