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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Author

Listed:
  • Lynn M. Boyden

    (Yale University School of Medicine)

  • Murim Choi

    (Yale University School of Medicine)

  • Keith A. Choate

    (Yale University School of Medicine)

  • Carol J. Nelson-Williams

    (Yale University School of Medicine)

  • Anita Farhi

    (Yale University School of Medicine)

  • Hakan R. Toka

    (Brigham and Women’s Hospital)

  • Irina R. Tikhonova

    (Yale Center for Genome Analysis, Yale University)

  • Robert Bjornson

    (Yale Center for Genome Analysis, Yale University)

  • Shrikant M. Mane

    (Yale Center for Genome Analysis, Yale University)

  • Giacomo Colussi

    (Nephrology Unit, Niguarda-Ca’ Granda Hospital, Milan 20162, Italy)

  • Marcel Lebel

    (Laval University, Québec G1K 7P4, Canada)

  • Richard D. Gordon

    (Endocrine Hypertension Research Centre, University of Queensland School of Medicine, Brisbane QLD 4006, Australia)

  • Ben A. Semmekrot

    (Canisius Wilhelmina Hospital, Nijmegen 6500 GS, Netherlands)

  • Alain Poujol

    (Pays d’Aix Hospital, Aix-en-Provence 13616, France)

  • Matti J. Välimäki

    (Helsinki University Central Hospital, Helsinki 00290, Finland)

  • Maria E. De Ferrari

    (Nephrology Unit, Niguarda-Ca’ Granda Hospital, Milan 20162, Italy)

  • Sami A. Sanjad

    (American University Medical Center, Beirut 1107 2020, Lebanon)

  • Michael Gutkin

    (Hypertension Research Center, University of Medicine and Dentistry of New Jersey)

  • Fiona E. Karet

    (University of Cambridge, Cambridge CB2 1TN, United Kingdom)

  • Joseph R. Tucci

    (Roger Williams Medical Center)

  • Jim R. Stockigt

    (Ewen Downie Metabolic Unit, Alfred Hospital, Melbourne VIC 3004, Australia)

  • Kim M. Keppler-Noreuil

    (University of Iowa Children’s Hospital)

  • Craig C. Porter

    (Medical College of Wisconsin)

  • Sudhir K. Anand

    (David Geffen School of Medicine at UCLA)

  • Margo L. Whiteford

    (Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children)

  • Ira D. Davis

    (Baxter Healthcare Corporation)

  • Stephanie B. Dewar

    (University of Pittsburgh School of Medicine)

  • Alberto Bettinelli

    (Mandic Hospital, Merate 23807, Italy)

  • Jeffrey J. Fadrowski

    (Johns Hopkins School of Medicine)

  • Craig W. Belsha

    (Saint Louis University Health Sciences Center)

  • Tracy E. Hunley

    (Vanderbilt University Medical Center)

  • Raoul D. Nelson

    (University of Utah)

  • Howard Trachtman

    (Cohen Children’s Medical Center of New York)

  • Trevor R. P. Cole

    (West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom)

  • Maury Pinsk

    (University of Alberta, Edmonton T6G 2M7, Canada)

  • Detlef Bockenhauer

    (Renal Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom)

  • Mohan Shenoy

    (Royal Manchester Children’s Hospital, Manchester M27 4HA, United Kingdom)

  • Priya Vaidyanathan

    (Children’s National Medical Center)

  • John W. Foreman

    (Duke University Medical Center)

  • Majid Rasoulpour

    (Connecticut Children’s Medical Center)

  • Farook Thameem

    (University of Texas Health Science Center)

  • Hania Z. Al-Shahrouri

    (University of Texas Health Science Center)

  • Jai Radhakrishnan

    (Columbia University College of Physicians and Surgeons)

  • Ali G. Gharavi

    (Columbia University College of Physicians and Surgeons)

  • Beatrice Goilav

    (Children’s Hospital at Montefiore)

  • Richard P. Lifton

    (Yale University School of Medicine)

Abstract

Exome sequencing identifies mutations in kelch-like 3 and cullin 3 as causes of a syndrome featuring high blood pressure and electrolyte abnormalities.

Suggested Citation

  • Lynn M. Boyden & Murim Choi & Keith A. Choate & Carol J. Nelson-Williams & Anita Farhi & Hakan R. Toka & Irina R. Tikhonova & Robert Bjornson & Shrikant M. Mane & Giacomo Colussi & Marcel Lebel & Rich, 2012. "Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities," Nature, Nature, vol. 482(7383), pages 98-102, February.
    • Handle: RePEc:nat:nature:v:482:y:2012:i:7383:d:10.1038_nature10814
    DOI: 10.1038/nature10814
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    Cited by:

    1. Yongxiang Zhao & Kasturi Roy & Pietro Vidossich & Laura Cancedda & Marco De Vivo & Biff Forbush & Erhu Cao, 2022. "Structural basis for inhibition of the Cation-chloride cotransporter NKCC1 by the diuretic drug bumetanide," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    2. Yongxiang Zhao & Heidi Schubert & Alan Blakely & Biff Forbush & Micholas Dean Smith & Jesse Rinehart & Erhu Cao, 2024. "Structural bases for Na+-Cl− cotransporter inhibition by thiazide diuretic drugs and activation by kinases," Nature Communications, Nature, vol. 15(1), pages 1-13, December.

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