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Items: 1 to 20 of 633

1.

Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.

Yang T, Esteve E, Pessah IN, Molinski TF, Allen PD, López JR.

Am J Physiol Cell Physiol. 2007 May;292(5):C1591-8. Epub 2006 Dec 20.

2.

Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT.

Am J Physiol Cell Physiol. 2004 Oct;287(4):C1094-102. Epub 2004 Jun 16.

6.

Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.

Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR.

Anesthesiology. 2006 Dec;105(6):1164-75.

PMID:
17122579
7.

Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor.

Eltit JM, Bannister RA, Moua O, Altamirano F, Hopkins PM, Pessah IN, Molinski TF, López JR, Beam KG, Allen PD.

Proc Natl Acad Sci U S A. 2012 May 15;109(20):7923-8. doi: 10.1073/pnas.1119207109. Epub 2012 Apr 30.

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11.

Expression levels of RyR1 and RyR3 control resting free Ca2+ in skeletal muscle.

Perez CF, López JR, Allen PD.

Am J Physiol Cell Physiol. 2005 Mar;288(3):C640-9. Epub 2004 Nov 17.

12.

A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels.

Bannister RA, Estève E, Eltit JM, Pessah IN, Allen PD, López JR, Beam KG.

J Gen Physiol. 2010 Jun;135(6):629-40. doi: 10.1085/jgp.200910329. Epub 2010 May 17.

13.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

Hum Mutat. 2000;15(5):410-7. Review.

PMID:
10790202
14.

Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak.

Eltit JM, Li H, Ward CW, Molinski T, Pessah IN, Allen PD, Lopez JR.

Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7046-51. doi: 10.1073/pnas.1018380108. Epub 2011 Apr 11.

15.

Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.

Roesl C, Sato K, Schiemann A, Pollock N, Stowell KM.

Cell Calcium. 2014 Sep;56(3):195-201. doi: 10.1016/j.ceca.2014.07.004. Epub 2014 Jul 18.

PMID:
25086907
17.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.

PMID:
11063719
18.

Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Ibarra M CA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.

Anesthesiology. 2006 Jun;104(6):1146-54.

PMID:
16732084
20.

Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.

Brinkmeier H, Krämer J, Krämer R, Iaizzo PA, Baur C, Lehmann-Horn F, Rüdel R.

Br J Anaesth. 1999 Dec;83(6):855-61.

PMID:
10700782

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