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There are 10957 results for: content related to: Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss

  1. 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

    Clinical Genetics

    Volume 69, Issue 2, February 2006, Pages: 135–144, M Feldman, M Prikis, Y Athanasiou, A Elia, A Pierides and CC Deltas

    Version of Record online : 18 JAN 2006, DOI: 10.1111/j.1399-0004.2006.00559.x

  2. You have full text access to this OnlineOpen article
    A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

    EMBO Molecular Medicine

    Volume 4, Issue 10, October 2012, Pages: 1057–1071, J. Christopher Hennings, Nicolas Picard, Antje K. Huebner, Tobias Stauber, Hannes Maier, Dennis Brown, Thomas J. Jentsch, Rosa Vargas-Poussou, Dominique Eladari and Christian A. Hübner

    Version of Record online : 30 AUG 2012, DOI: 10.1002/emmm.201201527

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    Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 3, May 2016, Pages: 303–311, Laura I. Escobar, Christopher Simian, Cyrielle Treard, Donia Hayek, Carolina Salvador, Norma Guerra, Mario Matos, Mara Medeiros, Sandra Enciso, María Dolores Camargo and Rosa Vargas-Poussou

    Version of Record online : 14 FEB 2016, DOI: 10.1002/mgg3.205

  4. Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2709–2712, Kaisu Nikali, Juan J. Vanegas, Mari-Wyn Burley, Juliana Martinez, Lina M. Lopez, Gabriel Bedoya, Oliver M. Wrong, Sue Povey, Robert J. Unwin and Andres Ruiz-Linares

    Version of Record online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32495

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    Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

    The Journal of Physiology

    Volume 576, Issue 1, October 2006, Pages: 11–21, Philine Wangemann

    Version of Record online : 22 SEP 2006, DOI: 10.1113/jphysiol.2006.112888

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    TRANSPORTERS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S213–S278, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_8.x

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    Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies

    American Journal of Hematology

    Volume 83, Issue 6, June 2008, Pages: 465–471, Sookkasem Khositseth, Apiwan Sirikanaerat, Siri Khoprasert, Sauwalak Opastirakul, Pornchai Kingwatanakul, Wanna Thongnoppakhun and Pa-thai Yenchitsomanus

    Version of Record online : 10 JAN 2008, DOI: 10.1002/ajh.21151

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    V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption

    Journal of Bone and Mineral Research

    Volume 27, Issue 8, August 2012, Pages: 1695–1707, De-Qin Yang, Shengmei Feng, Wei Chen, Haibo Zhao, Christie Paulson and Yi-Ping Li

    Version of Record online : 17 JUL 2012, DOI: 10.1002/jbmr.1623

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    The proton translocation domain of cellular vacuolar ATPase provides a target for the treatment of influenza A virus infections

    British Journal of Pharmacology

    Volume 164, Issue 2, September 2011, Pages: 344–357, Konstantin H Müller, Denis E Kainov, Karim El Bakkouri, Xavier Saelens, Jef K De Brabander, Christian Kittel, Elisabeth Samm and Claude P Muller

    Version of Record online : 22 AUG 2011, DOI: 10.1111/j.1476-5381.2011.01346.x

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    Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertility

    The EMBO Journal

    Volume 25, Issue 17, September 6, 2006, Pages: 4131–4141, Sandra Rodrigo Blomqvist, Hilmar Vidarsson, Olle Söder and Sven Enerbäck

    Version of Record online : 24 AUG 2006, DOI: 10.1038/sj.emboj.7601272

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    Consultants

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Page: S3, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_2.x

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    ENZYMES

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S279–S324, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_9.x

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    ION CHANNELS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S137–S174, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_5.x

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    Adaptor protein complex 2–mediated, clathrin-dependent endocytosis, and related gene activities, are a prominent feature during maturation stage amelogenesis

    Journal of Bone and Mineral Research

    Volume 28, Issue 3, March 2013, Pages: 672–687, Rodrigo S Lacruz, Steven J Brookes, Xin Wen, Jaime M Jimenez, Susanna Vikman, Ping Hu, Shane N White, S Petter Lyngstadaas, Curtis T Okamoto, Charles E Smith and Michael L Paine

    Version of Record online : 15 FEB 2013, DOI: 10.1002/jbmr.1779

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    Guide to Receptors and Channels (GRAC), 5th edition

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S1–S2, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_1.x

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    LIGAND-GATED ION CHANNELS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S115–S135, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_4.x

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    CATALYTIC RECEPTORS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S189–S212, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_7.x

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    G PROTEIN-COUPLED RECEPTORS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S5–S113, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_3.x

  19. You have full text access to this OnlineOpen article
    The Concise Guide to PHARMACOLOGY 2013/14: Transporters

    British Journal of Pharmacology

    Volume 170, Issue 8, December 2013, Pages: 1706–1796, Stephen P.H. Alexander, Helen E. Benson, Elena Faccenda, Adam J. Pawson, Joanna L. Sharman, Michael Spedding, John A. Peters, Anthony J. Harmar and CGTP Collaborators

    Version of Record online : 17 DEC 2013, DOI: 10.1111/bph.12450

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    NUCLEAR RECEPTORS

    British Journal of Pharmacology

    Volume 164, Issue s1, November 2011, Pages: S175–S188, SPH Alexander, A Mathie and JA Peters

    Version of Record online : 1 NOV 2011, DOI: 10.1111/j.1476-5381.2011.01649_6.x