| 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 |
| a novel heterozygous intronic mutation (c.639 + 1G>A) in the ATP6V0A4 gene was identified along with a heterozygous nonsense variant (c.580C>T, p.Arg194*). | 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 |
| 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 |
| 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 |
| ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase. | The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase.
Namkoong S, Lee KI, Lee JI, Park R, Lee EJ, Jang IS, Park J., Free PMC Article | 02/27/2016 |
| e have described patients with severe distal renal tubular acidosis and a novel splicing mutation in the ATP6V0A4 gene in a family originating from the Siliana region in northwestern Tunisia | A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.
Nagara M, Voskarides K, Elouej S, Zaravinos A, Riahi Z, Papagregoriou G, Kefi R, Boussetta K, Deltas C, Abdelhak S, Tinsa F. | 08/29/2015 |
| Functional analysis of selected regulated proteins revealed that knockdown of HNRPD, PHB2 and UB2V2 can increase HCMV replication, while knockdown of A4 and KSRP resulted in decreased HCMV replication. | Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection.
Chai F, Li HY, Wang W, Zhu XJ, Li Y, Wang S, Guo L, Zhang LK, Xiao G. | 08/22/2015 |
| For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian 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 from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL | 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 |
| Mutations of the ATP6V0A4 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 |
| Case Report: novel ATP6V0A4 gene mutation confirmed autosomal recessive distal renal tubular acidosis with normal hearing. | Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
El Hayek D, Bouzidi H, Pérez de Nanclares G, Soua H, Chibani JB, Ariceta G, Castaño L, Khelil AH. | 03/29/2014 |
| The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells. | The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
Capecci J, Forgac M., Free PMC Article | 01/25/2014 |
| Four mutations in the ATP6V0A4 gene were obesrved one single nucleotide deletion in exon 13, the nonsensein exon 3, and the missense changes in exon 17 and in exon 19. | 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 |
| This study demonistrated that expression identifies subtypes of oligodendrogliomas, pilocytic astrocytomas and gangliogliomas and may contribute to refine characterization of these tumors. | The renal v-ATPase a4 subunit is expressed in specific subtypes of human gliomas.
Gleize V, Boisselier B, Marie Y, Poëa-Guyon S, Sanson M, Morel N. | 08/11/2012 |
| There is the first evidence presented with progressive hearing loss associated with ATP6VOA4 mutation in a chinese patient. | Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.
Li X, Chai Y, Tao Z, Li L, Huang Z, Li Y, Wu H, Yang T. | 05/19/2012 |
| Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. | Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
Saito T, Hayashi D, Shibata S, Jogamoto M, Kamoda T. | 01/1/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Mutations in ATP6V0A4 present enlarged vestibular aqueduct and early onset sensorial hearing loss. | Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.
Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. | 01/21/2010 |
| the a4 isoform may be responsible for targeting V-ATPases to the plasma membrane of MB231 cells and that cell surface V-ATPases play a significant role in breast cancer invasion | Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells.
Hinton A, Sennoune SR, Bond S, Fang M, Reuveni M, Sahagian GG, Jay D, Martinez-Zaguilan R, Forgac M., Free PMC Article | 01/21/2010 |
| stability and function of the metabolon composed of H+ATPase and glycolytic components can be compromised by either loss of required PFK-1 binding (G820R) or loss of pump protein (R807Q) | Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1.
Su Y, Blake-Palmer KG, Sorrell S, Javid B, Bowers K, Zhou A, Chang SH, Qamar S, Karet FE., Free PMC Article | 01/21/2010 |