| Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco. | Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
AitRaise I, Amalou G, Bousfiha A, Charoute H, Rouba H, Abdelghaffar H, Bonnet C, Petit C, Barakat A. | 06/18/2022 |
| Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Zhang R, Chen Z, Song Q, Wang S, Liu Z, Zhao X, Shi X, Guo W, Lang Y, Bottillo I, Shao L. | 04/9/2022 |
| Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients. | 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. | 06/6/2020 |
| Serum autoantibodies to subunit B1 and subunit B2 of v-H(+) -ATPase in renal tubular acidosis patients may be responsible for impaired urinary acidification. | Presence of serum autoantibodies to vacuolar H(+) -ATPase in patients with renal tubular acidosis.
Xu C, Li Y, Ying H, Pan Y, Shi R, Lin X, Gao L. | 12/14/2019 |
| ATP6V1B1 is expressed in the early distal nephron. The physiological importance of H(+)-ATPase expression in these segments remains to be delineated. | H(+)-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.
Frische S, Chambrey R, Trepiccione F, Zamani R, Marcussen N, Alexander RT, Skjødt K, Svenningsen P, Dimke H., Free PMC Article | 07/13/2019 |
| In patient one, Two novel heterozygous missense mutations of the ATP6V1B1 gene (c.409C>T, p.Pro137Ser; c.904C>T, p.Arg302Trp) were identified. In patient III 2 novel heterozygous duplications (c.1504dupT, p.Tyr502Leufs*22; c.2351dupT, p.Phe785Ilefs*28) were found. | Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.
Zhang R, Wang C, Lang Y, Gao Y, Chen Z, Lu J, Zhao X, Shao L. | 01/26/2019 |
| Both B1 and B2 subunits of the V-ATPase are detectable in human urinary exosomes, and acid and alkali loading or distal renal tubular acidosis cause changes in the B1 but not B2 subunit abundance in urinary exosomes. | Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis.
Pathare G, Dhayat NA, Mohebbi N, Wagner CA, Bobulescu IA, Moe OW, Fuster DG., Free PMC Article | 01/5/2019 |
| RhCG and H+ATPases are located within the same cellular protein complex in the kidney and this interaction is required for maximal urinary acidification by H+-ATPases, a prerequisite for efficient NH3 secretion and urine excretion of NH4+. | The ammonia transporter RhCG modulates urinary acidification by interacting with the vacuolar proton-ATPases in renal intercalated cells.
Bourgeois S, Bounoure L, Mouro-Chanteloup I, Colin Y, Brown D, Wagner CA., Free PMC Article | 12/22/2018 |
| The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis. | Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children.
Liu J, Shen Q, Li G, Zhai Y, Fang X, Xu H., Free PMC Article | 12/22/2018 |
| Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. | Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.
Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, Kefi R, Pippucci T, Voskarides K, Bashamboo A, McElreavey K, Hachicha M, Romeo G, Seri M, Deltas C, Abdelhak S. | 09/22/2018 |
| A novel c.1169dupC frameshift mutation of ATP6V1B1 gene was identified in one family and the c.1155dupC North African mutation in 2 other families. Both mutations are located in exon 12 of ATP6V1B1 gene in Moroccan patients with recessive form of distal renal tubular acidosis associated with precocious hearing loss. | Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A. | 04/7/2018 |
| The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. | The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S. | 09/30/2017 |
| Our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones | The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.
Dhayat NA, Schaller A, Albano G, Poindexter J, Griffith C, Pasch A, Gallati S, Vogt B, Moe OW, Fuster DG., Free PMC Article | 05/27/2017 |
| ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families. | Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.
Zeinali F, Mohseni M, Fadaee M, Fattahi Z, Najmabadi H, Otukesh H, Kahrizi K. | 11/14/2015 |
| Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. | Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S., Free PMC Article | 07/4/2015 |
| Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss | Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
Gao Y, Xu Y, Li Q, Lang Y, Dong Q, Shao L. | 05/23/2015 |
| demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance; propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency | Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.
Zhang J, Fuster DG, Cameron MA, Quiñones H, Griffith C, Xie XS, Moe OW., Free PMC Article | 01/3/2015 |
| Rare and family-specific variants in ATP6V1B1 are responsible for distal renal tubular acidosis and sensorineural hearing loss syndrome in Turkey. | 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., Free PMC Article | 04/26/2014 |
| Mutations of the ATP6V1B1 gene is associated with primary distal renal tubular acidosis. | 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. | 04/5/2014 |
| Three ATP6V1B1 mutations were observed: one frameshift mutation in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site in intron 2, and one novel missense mutation in exon 11. | 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., Free PMC Article | 01/11/2014 |
| Data indicate that direct sequencing of the ATP6V1B1 gene showed one patient harbors two homozygous mutations and the other one is a compound heterozygous. | Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA. | 08/31/2013 |
| Only two ATP6V1B1 mutations are found in a Cypriot population with distal renal tubular acidosis. | Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
Elia A, Voskarides K, Demosthenous P, Michalopoulou A, Malliarou MA, Georgaki E, Athanasiou Y, Patsias C, Pierides A, Deltas C. | 01/14/2012 |
| This study indicated that a significant percentage of the children with DRTA had sensorineural hearing loss and mutation in ATP6V1B1 gene. | Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report.
Sharifian M, Esfandiar N, Mazaheri S, Kariminejad A, Mohkam M, Dalirani R, Esmaili R, Ahmadi M, Hassas-Yeganeh M. | 06/4/2011 |
| two novel mutations of a heterozygous 15 base-pair deletion (c.756_770del) in exon 7 and a heterozygous 1 base-pair insertion (c.1242_1243insC) in exon 12 in distal renal tubular acidosis and hearing loss | Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss.
Yashima T, Noguchi Y, Kawashima Y, Rai T, Ito T, Kitamura K. | 01/1/2011 |
| Two siblings with distal renal tubular acidosis and sensorineural deafness having mutation in the first coding exon of the ATP6V1B1 gene , resulting in a non functional protein, are reported. The parents were found to be carriers for the mutation. | Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Sethi SK, Singh N, Gil H, Bagga A. | 10/4/2010 |