An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities-Reference-Cited by-同舟云学术

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

Published:2016-07-05 Issue:435 Volume:9 Page:
ISSN:1945-0877
Container-title:Science Signaling
language:en
Short-container-title:Sci. Signal.

Author:

Lopez Rubén J.¹,Byrne Susan²,Vukcevic Mirko¹³,Sekulic-Jablanovic Marijana¹,Xu Lifen³,Brink Marijke³,Alamelu Jay⁴,Voermans Nicol⁵,Snoeck Marc⁶,Clement Emma⁷,Muntoni Francesco⁸,Zhou Haiyan⁸,Radunovic Aleksandar⁹,Mohammed Shehla⁷,Wraige Elizabeth²,Zorzato Francesco¹¹⁰,Treves Susan¹¹⁰,Jungbluth Heinz²¹¹¹²

Affiliation:

1. Departments of Biomedicine and Anesthesia, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

2. Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.

3. Department of Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

4. Department of Haematology, Evelina Children’s Hospital, St Thomas’ Hospital, London SE1 7EH, UK.

5. Department of Neurology, Radboud University Medical Centre, Nijmegen, Netherlands.

6. National MH Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, 6532 Nijmegen, Netherlands.

7. Department of Clinical Genetics, Guy’s Hospital, London SE1 7EH, UK.

8. Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.

9. Department of Neurology, The Royal London Hospital, London E1 1BB, UK.

10. Department of Life Sciences, General Pathology Section, University of Ferrara, Via Borsari 46, 44100 Ferrara, Italy.

11. Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King’s College, London SE1 1UL, UK.

12. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London SE5 9RX, UK.

Abstract

Gain-of-function RYR1 mutations cause increased Ca 2+ sparks in vascular smooth muscle cells and prolong bleeding.

Funder

Swiss NSF

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference56 articles.

1. D. L. Kasper Harrison’s Principles of Internal Medicine D. L. Kasper A. Fauci S. L. Hauser D. L. Longo J. L. Jameson J. Loscalzo Eds. (McGraw Hill Education Medical New York ed. 19 2015).

2. Bleeders, bleeding rates, and bleeding score

3. The Prevalence of Bleeding Disorders Among Healthy Pediatric Patients With Abnormal Preprocedural Coagulation Studies

4. Presence of Two Different Genetic Traits in Malignant Hyperthermia Families

5. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

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