PMC Articles for MedGen (Select 356151) - PMC

Select item 99129491.

An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations

Carlos A. Ibarra Moreno, Sally Hu, Natalia Kraeva, Frank Schuster, Stephan Johannsen, Henrik Rueffert, Werner Klingler, Luc Heytens, Sheila Riazi

Anesthesiology. Author manuscript; available in PMC 2023 Feb 10.

Published in final edited form as: Anesthesiology. 2019 Nov; 131(5): 983–991. doi: 10.1097/ALN.0000000000002813

PMCID:: PMC9912949

Article PDF–785K

Select item 73674962.

Transient receptor potential cation channels and calcium dyshomeostasis in a mouse model relevant to Malignant Hyperthermia

Jose Rafael Lopez, Vikas Kaura, Phillip Hopkins, Xiaochen Liu, Arkady Uryach, Jose Adams, Paul D Allen

Anesthesiology. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Anesthesiology. 2020 Aug; 133(2): 364–376. doi: 10.1097/ALN.0000000000003387

PMCID:: PMC7367496

Article PDF–1.2M

Select item 70089363.

PharmGKB summary: very important pharmacogene information for CACNA1S

Katrin Sangkuhl, Robert T. Dirksen, Maria L. Alvarellos, Russ B. Altman, Teri E. Klein

Pharmacogenet Genomics. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Pharmacogenet Genomics. 2020 Feb; 30(2): 34–44. doi: 10.1097/FPC.0000000000000393

PMCID:: PMC7008936

Article PDF–379K

Select item 65061404.

Lethal multiple pterygium syndrome

Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Rep. 2019; 12(5): e229045. Published online 2019 May 8. doi: 10.1136/bcr-2018-229045

PMCID:: PMC6506140

Article PDF–852K

Select item 55037045.

Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia

Antonio Michelucci, Cecilia Paolini, Simona Boncompagni, Marta Canato, Carlo Reggiani, Feliciano Protasi

FASEB J. 2017 Aug; 31(8): 3649–3662. Published online 2017 May 2. doi: 10.1096/fj.201601292R

PMCID:: PMC5503704

Article

Select item 50288416.

Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals

Kerstin Hoppe, Guido Hack, Frank Lehmann–Horn, Karin Jurkat–Rott, Scott Wearing, Alberto Zullo, Antonella Carsana, Werner Klingler

Sci Rep. 2016; 6: 33372. Published online 2016 Sep 20. doi: 10.1038/srep33372

PMCID:: PMC5028841

Article PDF–971K

Select item 44727337.

Next Generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness

Dorota Fiszer, Marie-Anne Shaw, Nickla A. Fisher, Ian M. Carr, Pawan K. Gupta, Elizabeth J. Watkins, Daniel Roiz de Sa, Jerry H. Kim, Philip M. Hopkins

Anesthesiology. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: Anesthesiology. 2015 May; 122(5): 1033–1046. doi: 10.1097/ALN.0000000000000610

PMCID:: PMC4472733

Article PDF–676K

Select item 40773548.

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

Stephen G. Gonsalves, David Ng, Jennifer J. Johnston, Jamie K. Teer, NISC Comparative Sequencing Program‖, Peter D. Stenson, David N. Cooper, James C. Mullikin, Leslie G. Biesecker

Anesthesiology. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Anesthesiology. 2013 Nov; 119(5): 1043–1053. doi: 10.1097/ALN.0b013e3182a8a8e7

PMCID:: PMC4077354

Article PDF–1.2M

Select item 36331649.

Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States

Barbara W. Brandom, Saiid Bina, Cynthia A. Wong, Tarina Wallace, Mihaela Visoiu, Paul J. Isackson, Georgirene D. Vladutiu, Nyamkhishig Sambuughin, Sheila M. Muldoon

Anesth Analg. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Anesth Analg. 2013 May; 116(5): 1078–1086. Published online 2013 Apr 4. doi: 10.1213/ANE.0b013e31828a71ff

PMCID:: PMC3633164

Article PDF–345K

Select item 351995710.

JP-45/JSRP1 variants affect skeletal muscle excitation contraction coupling by decreasing the sensitivity of the dihydropyridine receptor

Toshimichi Yasuda, Osvaldo Delbono, Zhong-Min Wang, Maria L. Messi, Thierry Girard, Albert Urwyler, Susan Treves, Francesco Zorzato

Hum Mutat. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 184–190. Published online 2012 Oct 11. doi: 10.1002/humu.22209

PMCID:: PMC3519957

Article PDF–891K

Select item 327465111.

AICAR Prevents Heat Induced Sudden Death in RyR1 Mutant Mice Independent of AMPK Activation

Johanna T. Lanner, Dimitra K. Georgiou, Adan Dagnino-Acosta, Alina Ainbinder, Qing Cheng, Aditya D. Joshi, Zanwen Chen, Viktor Yarotskyy, Joshua M. Oakes, Chang Seok Lee, Tanner O. Monroe, Arturo Santillan, Keke Dong, Laurie Goodyear, Iskander I. Ismailov, George G. Rodney, Robert T. Dirksen, Susan L. Hamilton

Nat Med. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Nat Med. 2012 Feb; 18(2): 244–251. Published online 2012 Jan 8. doi: 10.1038/nm.2598