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1999 1
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71 results

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Page 1
A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.
Peng SQ, Wu QQ, Wang WY, Zhang YL, Zhou RN, Liao J, Wei JX, Yang Y, Shi W, Yang JL, Wang XX, Wei ZY, Sun JX, Huang L, Fan H, Cai H, Wang CK, Li XH, Li TS, Liu BC, Zhang XL, Wang B. Peng SQ, et al. J Clin Invest. 2025 Apr 29;135(13):e188807. doi: 10.1172/JCI188807. eCollection 2025 Jul 1. J Clin Invest. 2025. PMID: 40299568 Free PMC article.
The ATP6V0A4 gene encodes the a4 subunit of vacuolar H+-ATPase (V-ATPase), which mediates hydrogen ion transport across the membrane. ...In conclusion, we identified a gain-of-function mutation in the ATP6V0A4 gene, broadening its phenotypic and mutational spectrum, …
The ATP6V0A4 gene encodes the a4 subunit of vacuolar H+-ATPase (V-ATPase), which mediates hydrogen ion transport across the membrane. …
Etiology and outcomes of primary renal tubular acidosis.
Priyadarshini S, Sinha A, Jana M, Tandon R, Sikka K, Mathur VP, Bhatt GC, Yadav M, Meena JK, Khandelwal P, Hari P, Bagga A. Priyadarshini S, et al. Pediatr Nephrol. 2025 Aug;40(8):2515-2527. doi: 10.1007/s00467-025-06747-9. Epub 2025 Apr 15. Pediatr Nephrol. 2025. PMID: 40232499
Sensorineural hearing loss was more common with ATP6V1B1 than with ATP6V0A4 variants (61.5% vs. 22.2%, P = 0.099) and did not vary by metabolic control. At median follow-up of 5-years, 74.1% of patients with distal RTA had short stature, 74.6% had poor metabolic control an …
Sensorineural hearing loss was more common with ATP6V1B1 than with ATP6V0A4 variants (61.5% vs. 22.2%, P = 0.099) and did not vary by …
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
Miura K, Sekine T, Takahashi K, Takita J, Harita Y, Ohki K, Park MJ, Hayashi Y, Tajima A, Ishihara M, Hisano M, Murai M, Igarashi T. Miura K, et al. Nephrol Dial Transplant. 2013 Aug;28(8):2123-30. doi: 10.1093/ndt/gft216. Epub 2013 May 31. Nephrol Dial Transplant. 2013. PMID: 23729491
METHODS: The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds. ...RESULTS: Novel mutations in the ATP6V1B1 gene were identified in two kindreds, including frameshift, in-frame insertion and nonsense …
METHODS: The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindre …
ATP6V0A4 as a novel prognostic biomarker and potential therapeutic target in oral squamous cell carcinoma.
Gao X, Zhou J, Qiao Y, Lin C, Zhang G, Wu Q, Su Z, Zhang Q, Huang S. Gao X, et al. BMC Oral Health. 2025 Jul 28;25(1):1269. doi: 10.1186/s12903-025-06653-4. BMC Oral Health. 2025. PMID: 40721755 Free PMC article.
BACKGROUND: Increasing evidence indicates that the dysregulation of ATP6V0A4 is linked to aggressive behaviors in various types of cancer. Nevertheless, the exact role and molecular mechanisms of ATP6V0A4 in oral squamous cell carcinoma (OSCC) are not yet fully unde …
BACKGROUND: Increasing evidence indicates that the dysregulation of ATP6V0A4 is linked to aggressive behaviors in various types of ca …
Molecular Characterization of Multifocal Granular Cell Tumors.
Dehner CA, Schroeder MC, Lyu Y, Bell R, Borcherding DC, Moon T, Hirbe A, Chrisinger JSA. Dehner CA, et al. Am J Surg Pathol. 2023 Mar 1;47(3):326-332. doi: 10.1097/PAS.0000000000001992. Epub 2022 Nov 14. Am J Surg Pathol. 2023. PMID: 36534754
Twenty tumors showed mutations in ATP6AP1 (48%), 10 tumors had mutations in ATP6AP2 (24%), and 2 tumors showed mutations in ATP6V0A4 (5%). Predicted loss-of-function mutations were found in ATP6AP1 in 17 tumors (40%), in ATP6AP2 in 10 tumors (24%), and in ATP6V0A4 i …
Twenty tumors showed mutations in ATP6AP1 (48%), 10 tumors had mutations in ATP6AP2 (24%), and 2 tumors showed mutations in ATP6V0A4 …
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Smith AN, et al. Nat Genet. 2000 Sep;26(1):71-5. doi: 10.1038/79208. Nat Genet. 2000. PMID: 10973252
Northern-blot analysis demonstrated ATP6N1B expression in kidney but not other main organs. Immunofluorescence studies in human kidney cortex revealed that ATP6N1B localizes almost exclusively to the apical surface of -intercalated cells. We screened nine dRTA kindr …
Northern-blot analysis demonstrated ATP6N1B expression in kidney but not other main organs. Immunofluorescence studies in human kidne …
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, Ben Romdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castaño L, Haj Khelil A, Ariceta G. Elhayek D, et al. BMC Med Genet. 2013 Nov 20;14:119. doi: 10.1186/1471-2350-14-119. BMC Med Genet. 2013. PMID: 24252324 Free PMC article.
Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. ...CONCLUSION: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohor …
Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 ge …
Screening and Validation of Genes Associated With Lysosomal-Dependent Cell Death in Colorectal Cancer.
Zhuang J, Ma C, Yang M, Song W. Zhuang J, et al. Mol Carcinog. 2025 Dec;64(12):1963-1980. doi: 10.1002/mc.70024. Epub 2025 Sep 18. Mol Carcinog. 2025. PMID: 40964747
A total of 37 candidate genes were identified. ATP6V0A4, CLU and IL13RA2 were selected for constructing a risk model. The risk model, incorporating independent prognostic parameters such as risk score, age and pathological T stage, exhibited favorable diagnostic performanc …
A total of 37 candidate genes were identified. ATP6V0A4, CLU and IL13RA2 were selected for constructing a risk model. The risk model, …
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
In ATP6V1B1, one novel and five previously reported mutations were found in 10 kindreds. In 12 ATP6V0A4 kindreds, seven of 10 mutations were novel. A further nine novel ATP6V0A4 mutations were found in "sporadic" cases. ...These findings provide further evidence for …
In ATP6V1B1, one novel and five previously reported mutations were found in 10 kindreds. In 12 ATP6V0A4 kindreds, seven of 10 mutatio …
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D, Haque SK. Batlle D, et al. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Nephrol Dial Transplant. 2012. PMID: 23114896 Free article. Review.
Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the loss of function of the apical H(+) ATPase and are usually responsible for patients with autosomal recessive dRTA often associated with earl …
Mutations in ATP6V1B1, encoding the B-subtype unit of the apical H(+) ATPase, and ATP6V0A4, encoding the a-subtype unit, lead to the …
71 results