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Items: 1 to 20 of 586

1.

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
3.

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.

4.

Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice.

Feng W, Barrientos GC, Cherednichenko G, Yang T, Padilla IT, Truong K, Allen PD, Lopez JR, Pessah IN.

Mol Pharmacol. 2011 Mar;79(3):420-31. doi: 10.1124/mol.110.067959. Epub 2010 Dec 14.

5.

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.

Wehner M, Rueffert H, Koenig F, Olthoff D.

Neuromuscul Disord. 2004 Jul;14(7):429-37.

PMID:
15210166
7.

Novel ryanodine receptor mutation that may cause malignant hyperthermia.

Kaufmann A, Kraft B, Michalek-Sauberer A, Weigl LG.

Anesthesiology. 2008 Sep;109(3):457-64. doi: 10.1097/ALN.0b013e318182a93b.

PMID:
18719443
8.

Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.

Loke JC, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH.

Anesthesiology. 2003 Aug;99(2):297-302.

PMID:
12883402
9.

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM.

Hum Mol Genet. 2000 Jun 12;9(10):1515-24.

PMID:
10888602
10.

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, Riehl J, Pessah IN, Zhang P, Bhattacharjee MB, Dirksen RT, Hamilton SL.

FASEB J. 2006 Feb;20(2):329-30. Epub 2005 Nov 11.

PMID:
16284304
12.

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

Vukcevic M, Broman M, Islander G, Bodelsson M, Ranklev-Twetman E, Müller CR, Treves S.

Anesth Analg. 2010 Jul;111(1):185-90. doi: 10.1213/ANE.0b013e3181cbd815. Epub 2010 Feb 8.

PMID:
20142353
13.

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.

Ducreux S, Zorzato F, Müller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S.

J Biol Chem. 2004 Oct 15;279(42):43838-46. Epub 2004 Aug 8.

14.

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.

Sato K, Pollock N, Stowell KM.

Anesthesiology. 2010 Jun;112(6):1350-4. doi: 10.1097/ALN.0b013e3181d69283.

PMID:
20461000
15.

Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations.

Fiege M, Wappler F, Weisshorn R, Ulrich Gerbershagen M, Steinfath M, Schulte Am Esch J.

Anesthesiology. 2002 Aug;97(2):345-50.

PMID:
12151923
16.

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.

Migita T, Mukaida K, Hamada H, Yasuda T, Haraki T, Nishino I, Murakami N, Kawamoto M.

J Anesth. 2009;23(3):341-6. doi: 10.1007/s00540-009-0746-3. Epub 2009 Aug 14.

PMID:
19685112
17.

A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.

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

J Gen Physiol. 2010 Jun;135(6):619-28. doi: 10.1085/jgp.200910328. Epub 2010 May 17.

18.
19.

Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).

Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K.

Anesthesiology. 2001 Sep;95(3):716-25.

PMID:
11575546
20.

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