197 related articles for article (PubMed ID: 25517796)
1. Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.
Kumar PS; Venkatesh K; Sowjenya G; Srikanth L; Sunitha MM; Prasad UV; Swarupa V; Yeswanth S; Naveen PS; Sridhar A; Kumar VS; Sarma PV
J Biomol Struct Dyn; 2015; 33(10):2094-103. PubMed ID: 25517796
[TBL] [Abstract][Full Text] [Related]
2. 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
Curr Res Transl Med; 2016; 64(1):5-8. PubMed ID: 27140593
[TBL] [Abstract][Full Text] [Related]
3. 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
BMC Med Genet; 2013 Nov; 14():119. PubMed ID: 24252324
[TBL] [Abstract][Full Text] [Related]
4. 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
Int J Pediatr Otorhinolaryngol; 2020 Feb; 129():109772. PubMed ID: 31733597
[TBL] [Abstract][Full Text] [Related]
5. 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
Clin Genet; 2013 Mar; 83(3):274-8. PubMed ID: 22509993
[TBL] [Abstract][Full Text] [Related]
6. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
Zhao X; Lu J; Gao Y; Wang X; Lang Y; Shao L
BMC Nephrol; 2018 Dec; 19(1):364. PubMed ID: 30558562
[TBL] [Abstract][Full Text] [Related]
7. Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation.
Naveen PS; Srikanth L; Venkatesh K; Sarma PV; Sridhar N; Krishnakishore C; Sandeep Y; Manjusha Y; Sivakumar V
Saudi J Kidney Dis Transpl; 2015 Jan; 26(1):119-21. PubMed ID: 25579729
[TBL] [Abstract][Full Text] [Related]
8. Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP; Bienias M; Walsh P; Kleta R; Van't Hoff WG; Ashton E; Jenkins L; Bockenhauer D
Pediatr Nephrol; 2017 Jun; 32(6):987-996. PubMed ID: 28188436
[TBL] [Abstract][Full Text] [Related]
9. 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
Ren Fail; 2013 Oct; 35(9):1281-4. PubMed ID: 23923981
[TBL] [Abstract][Full Text] [Related]
10. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
Mohebbi N; Wagner CA
J Nephrol; 2018 Aug; 31(4):511-522. PubMed ID: 28994037
[TBL] [Abstract][Full Text] [Related]
11. Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.
Pereira PC; Melo FM; De Marco LA; Oliveira EA; Miranda DM; Simões e Silva AC
J Pediatr (Rio J); 2015; 91(6):583-9. PubMed ID: 26208211
[TBL] [Abstract][Full Text] [Related]
12. 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
Iran J Kidney Dis; 2010 Jul; 4(3):202-6. PubMed ID: 20622307
[TBL] [Abstract][Full Text] [Related]
13. Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.
Carboni I; Andreucci E; Caruso MR; Ciccone R; Zuffardi O; Genuardi M; Pela I; Giglio S
Nephrol Dial Transplant; 2009 Sep; 24(9):2734-8. PubMed ID: 19364879
[TBL] [Abstract][Full Text] [Related]
14. 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; 2002 Nov; 39(11):796-803. PubMed ID: 12414817
[TBL] [Abstract][Full Text] [Related]
15. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Sethi SK; Singh N; Gil H; Bagga A
Indian Pediatr; 2009 May; 46(5):425-7. PubMed ID: 19478356
[TBL] [Abstract][Full Text] [Related]
16. 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; 2006 Feb; 69(2):135-44. PubMed ID: 16433694
[TBL] [Abstract][Full Text] [Related]
17. 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
Nephrol Dial Transplant; 2013 Aug; 28(8):2123-30. PubMed ID: 23729491
[TBL] [Abstract][Full Text] [Related]
18. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
Joshua B; Kaplan DM; Raveh E; Lotan D; Anikster Y
J Laryngol Otol; 2008 Feb; 122(2):193-8. PubMed ID: 17669226
[TBL] [Abstract][Full Text] [Related]
19. Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park E; Cho MH; Hyun HS; Shin JI; Lee JH; Park YS; Choi HJ; Kang HG; Cheong HI
Kidney Blood Press Res; 2018; 43(2):513-521. PubMed ID: 29627839
[TBL] [Abstract][Full Text] [Related]
20. 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
Nat Genet; 2000 Sep; 26(1):71-5. PubMed ID: 10973252
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
