These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 22509993)

  • 21. 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]  

  • 22. 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]  

  • 23. A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.
    Anupama PH; Abraham G; Shanmugasundaram L; Anupama SH
    Saudi J Kidney Dis Transpl; 2019; 30(6):1442-1446. PubMed ID: 31929293
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.
    Saito T; Hayashi D; Shibata S; Jogamoto M; Kamoda T
    Eur J Pediatr; 2010 Oct; 169(10):1271-3. PubMed ID: 20221774
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
    Escobar LI; Simian C; Treard C; Hayek D; Salvador C; Guerra N; Matos M; Medeiros M; Enciso S; Camargo MD; Vargas-Poussou R
    Mol Genet Genomic Med; 2016 May; 4(3):303-11. PubMed ID: 27247958
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.
    Gómez-Conde S; García-Castaño A; Aguirre M; Herrero M; Gondra L; García-Pérez N; García-Ledesma P; Martín-Penagos L; Dall'Anese C; Ariceta G; Castaño L; Madariaga L
    Pediatr Nephrol; 2021 Oct; 36(10):3133-3142. PubMed ID: 33881640
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis.
    Zhang Z; Liu KX; He JW; Fu WZ; Yue H; Zhang H; Zhang CQ; Zhang ZL
    Arch Med Res; 2012 May; 43(4):298-304. PubMed ID: 22609520
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
    Sritippayawan S; Sumboonnanonda A; Vasuvattakul S; Keskanokwong T; Sawasdee N; Paemanee A; Thuwajit P; Wilairat P; Nimmannit S; Malasit P; Yenchitsomanus PT
    Am J Kidney Dis; 2004 Jul; 44(1):64-70. PubMed ID: 15211439
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
    Hammi Y; Charfi H; Ferjani M; Sayari T; Mrad R; Gargah T
    Tunis Med; 2023; 101(8-9):704-708. PubMed ID: 38445406
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
    Ruf R; Rensing C; Topaloglu R; Guay-Woodford L; Klein C; Vollmer M; Otto E; Beekmann F; Haller M; Wiedensohler A; Leumann E; Antignac C; Rizzoni G; Filler G; Brandis M; Weber JL; Hildebrandt F
    Pediatr Nephrol; 2003 Feb; 18(2):105-9. PubMed ID: 12579397
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.
    Ay E; Gurses E; Aslan F; Gulhan B; Alniacik A; Duzova A; Bajin MD; Sennaroglu L; Genc GA; Ozaltin F; Topaloglu R
    Audiol Neurootol; 2023; 28(5):350-359. PubMed ID: 37121229
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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
    J Laryngol Otol; 2014 Dec; 128(12):1056-9. PubMed ID: 25498251
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    Clin Nephrol; 2014 Feb; 81(2):142-5. PubMed ID: 22854161
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetic causes and mechanisms of distal renal tubular acidosis.
    Batlle D; Haque SK
    Nephrol Dial Transplant; 2012 Oct; 27(10):3691-704. PubMed ID: 23114896
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
    Tian C; Gagnon LH; Longo-Guess C; Korstanje R; Sheehan SM; Ohlemiller KK; Schrader AD; Lett JM; Johnson KR
    Hum Mol Genet; 2017 Oct; 26(19):3722-3735. PubMed ID: 28934385
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.