Citations for
1ATP6V1B1, DRTAB1
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
Feldman M, Prikis M, Athanasiou Y, Elia A, Pierides A, Deltas CC.
Clin Genet 69(2):135-44. 2006
2ATP6V0A4, ATP6V1B1
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.
J Med Genet 39(11):796-803. 2002
3ATP6V1B1, DRTAB1
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP.
Nat Genet 21 : 84-90. 1999
4ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
Structure and properties of the vacuolar (H+)-ATPases.
Forgac M.
J Biol Chem 274(19):12951-4. Review. No abstract available. 1999
5ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
Vacuolar and plasma membrane proton-adenosinetriphosphatases.
Nelson N, Harvey WR.
Physiol Rev 79(2):361-85. Review. 1999
6ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
Structure, function and regulation of the vacuolar (H+)-ATPase.
Stevens TH, Forgac M.
Annu Rev Cell Dev Biol 13:779-808. Review. 1997
7ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
Finbow ME, Harrison MA.
Biochem J 324 ( Pt 3):697-712. Review. 1997
8ATP6V1B1
A gene map of the human genome.
Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tome P, Aggarwal A, Bajorek E, Bentolila S, Birren BB, Butler A, Castle AB, Chiannilkulchai N, Chu A, Clee C, Cowles S, Day PJ, Dibling T, Drouot N, Dunham I, Duprat S, East C, Hudson TJ, et al.
Science 274(5287):540-6. Review. 1996