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

Boyden, Lynn M.; Choi, Murim; Choate, Keith A.; Nelson-Williams, Carol J.; Farhi, Anita; Toka, Hakan R.; Tikhonova, Irina R.; Bjornson, Robert; Mane, Shrikant M.; Colussi, Giacomo; Lebel, Marcel; Gordon, Richard D.; Semmekrot, Ben A.; Poujol, Alain; Välimäki, Matti J.; De Ferrari, Maria E.; Sanjad, Sami A.; Gutkin, Michael; Karet, Fiona E.; Tucci, Joseph R.; Stockigt, Jim R.; Keppler-Noreuil, Kim M.; Porter, Craig C.; Anand, Sudhir K.; Whiteford, Margo L.; Davis, Ira D.; Dewar, Stephanie B.; Bettinelli, Alberto; Fadrowski, Jeffrey J.; Belsha, Craig W.; Hunley, Tracy E.; Nelson, Raoul D.; Trachtman, Howard; Cole, Trevor R. P.; Pinsk, Maury; Bockenhauer, Detlef; Shenoy, Mohan; Vaidyanathan, Priya; Foreman, John W.; Rasoulpour, Majid; Thameem, Farook; Al-Shahrouri, Hania Z.; Radhakrishnan, Jai; Gharavi, Ali G.; Goilav, Beatrice; Lifton, Richard P.

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

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, Richard D. Gordon, Ben A. Semmekrot, Alain Poujol, Matti J. Välimäki, Maria E. De Ferrari, Sami A. Sanjad, Michael Gutkin, Fiona E. Karet, Joseph R. Tucci, Jim R. Stockigt, Kim M. Keppler-Noreuil, Craig C. Porter, Sudhir K. Anand, Margo L. Whiteford, Ira D. Davis, Stephanie B. Dewar, Alberto Bettinelli, Jeffrey J. Fadrowski, Craig W. Belsha, Tracy E. Hunley, Raoul D. Nelson, Howard Trachtman, Trevor R. P. Cole, Maury Pinsk, Detlef Bockenhauer, Mohan Shenoy, Priya Vaidyanathan, John W. Foreman, Majid Rasoulpour, Farook Thameem, Hania Z. Al-Shahrouri, Jai Radhakrishnan, Ali G. Gharavi, Beatrice Goilav and Richard P. Lifton ()
Additional contact information
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

Nature, 2012, vol. 482, issue 7383, 98-102

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

Date: 2012
References: Add references at CitEc
Citations: View citations in EconPapers (2)

Downloads: (external link)
https://www.nature.com/articles/nature10814 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:482:y:2012:i:7383:d:10.1038_nature10814

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature10814

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().