检索结果 - Siân E. Piret

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  1. 1
    Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

    Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease 由 Jonathan L. Moskowitz, Siân E. Piret, Karl Lhotta, Thomas M. Kitzler, Adam P. Tashman, Erin Velez, Rajesh V. Thakker, Peter Kotanko

    出版 2013
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  2. 2
    Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

    Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress 由 Siân E. Piret, Eric Olinger, Adam J. Reed, M. Andrew Nesbit, Tertius Hough, Liz Bentley, Olivier Devuyst, Roger Cox, Rajesh V. Thakker

    出版 2017
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  3. 3
    Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

    Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients 由 Caroline M. Gorvin, Martijn J. Wilmer, Siân E. Piret, Brian Harding, Lambertus P. van den Heuvel, Oliver Wrong, Parmjit Jat, Jonathan D. Lippiat, Elena Levtchenko, Rajesh V. Thakker

    出版 2013
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  4. 4
    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) 由 Siân E. Piret, Caroline M. Gorvin, Alistair T. Pagnamenta, Sarah Howles, Treena Cranston, Nigel Rust, M. Andrew Nesbit, Ben Glaser, Jenny C. Taylor, Andreas Buchs, Fadil Hannan, Rajesh V. Thakker

    出版 2016
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  5. 5
    Krüppel-like factor 6–mediated loss of BCAA catabolism contributes to kidney injury in mice and humans

    Krüppel-like factor 6–mediated loss of BCAA catabolism contributes to kidney injury in mice and humans 由 Siân E. Piret, Yiqing Guo, Ahmed A. Attallah, Sylvia J. Horne, Amy Zollman, Daniel Owusu, Justina Henein, Viktoriya S. Sidorenko, Mónica P. Revelo, Takashi Hato, Avi Ma’ayan, John Cijiang He, Sandeep K. Mallipattu

    出版 2021
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  6. 6
    Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

    Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy 由 Caroline M. Gorvin, Fadil Hannan, Sarah Howles, Valerie Babinsky, Siân E. Piret, Angela Rogers, Andrew Freidin, Michelle Stewart, Anju Paudyal, Tertius Hough, M. Andrew Nesbit, Sara Wells, Tonia L. Vincent, S.D.M. Brown, Roger Cox, Rajesh V. Thakker

    出版 2017
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  7. 7
    Loss of proximal tubular transcription factor Krüppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation

    Loss of proximal tubular transcription factor Krüppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation 由 Siân E. Piret, Ahmed A. Attallah, Xiangchen Gu, Yiqing Guo, Nehaben A. Gujarati, Justina Henein, Amy Zollman, Takashi Hato, Avi Ma’ayan, Mónica P. Revelo, Kathleen G. Dickman, Chung‐Hsin Chen, Chia‐Tung Shun, Thomas A. Rosenquist, John Cijiang He, Sandeep K. Mallipattu

    出版 2021
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  8. 8
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders 由 Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A.R. Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, P Bignell, Edward Blair, Veronica J. Buckle, Katherine R. Bull, Ondřej Cais, Holger Cario, Helen Chapel, Richard R. Copley, Richard J. Cornall, Jude Craft, Karin Dahan, Emma E. Davenport, Calliope A. Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D. Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V. Gruszczyk, Robert Hastings, Edouard Hatton, Douglas R. Higgs, Adrian V. S. Hill, Chris Holmes, Malcolm F. Howard, Linda Hughes, Peter Humburg, David H. Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C. Knight, Jonathan Krohn, Sarah Lamble, Craig B. Langman, Lorne Lonie, Joshua Luck, Davis J. McCarthy, Simon J. McGowan, Mary Frances McMullin, Kerry A. Miller, Lisa Murray, Andrea H. Németh, M. Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Oturai, Alistair T. Pagnamenta, Smita Y. Patel, Melanie J. Percy, Nayia Petousi, Paolo Piazza, Siân E. Piret, Guadalupe Polanco‐Echeverry, Niko Popitsch, Fiona Powrie, Christopher W. Pugh, Lynn Quek, Peter A. Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A. van Schouwenburg, Anna Schuh, Earl D. Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V. Thakker, Ian Tomlinson, Amy Trebes, Stephen R.F. Twigg, Holm H. Uhlig, Paresh Vyas, Tim J. Vyse, Steven A. Wall, Hugh Watkins, Michael P. Whyte, Lorna Witty

    出版 2015
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