Citations for
1MSH1, RYR1
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N, Laforęt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.
Acta Neurol Scand 137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29. 2018
2RYR1
High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study.
Coburger J, Kapapa T, Wirtz CR, Jurkat-Rott K, Klingler W.
J Clin Neurosci 45:209-213. doi: 10.1016/j.jocn.2017.06.029. Epub 2017 Jul 24. 2017
3CCO, RYR1
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
Chen W, Koop A, Liu Y, Guo W, Wei J, Wang R, MacLennan DH, Dirksen RT, Chen SRW.
Biochem J 474(16):2749-2761. doi: 10.1042/BCJ20170282. 2017
4CALM1, RYR1, RYR2, S100A1
S100A1 Protein Does Not Compete with Calmodulin for Ryanodine Receptor Binding but Structurally Alters the Ryanodine ReceptorˇCalmodulin Complex.
Rebbeck RT, Nitu FR, Rohde D, Most P, Bers DM, Thomas DD, Cornea RL.
J Biol Chem 291(30):15896-907. doi: 10.1074/jbc.M115.713107. Epub 2016 May 19. 2016
5RYR1
Structural insights into Ca(2+)-activated long-range allosteric channel gating of RyR1.
Wei R, Wang X, Zhang Y, Mukherjee S, Zhang L, Chen Q, Huang X, Jing S, Liu C, Li S, Wang G, Xu Y, Zhu S, Williams AJ, Sun F, Yin CC.
Cell Res 26(9):977-94. doi: 10.1038/cr.2016.99. Epub 2016 Aug 30. 2016
6RYR1, RYR2, RYR3
The Central domain of RyR1 is the transducer for long-range allosteric gating of channel opening.
Bai XC, Yan Z, Wu J, Li Z, Yan N.
Cell Res 26(9):995-1006. doi: 10.1038/cr.2016.89. Epub 2016 Jul 29. 2016
7RYR1
Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca(2+) release channel.
Filipova D, Walter AM, Gaspar JA, Brunn A, Linde NF, Ardestani MA, Deckert M, Hescheler J, Pfitzer G, Sachinidis A, Papadopoulos S.
Sci Rep 6:20050. doi: 10.1038/srep20050. Erratum in: Sci Rep. 2016 Apr 22;6:24450. 2016
8RYR1
Rectification of muscle and nerve deficits in paralyzed ryanodine receptor type 1 mutant embryos.
Gartz Hanson M, Niswander LA.
Dev Biol 404(2):76-87. doi: 10.1016/j.ydbio.2015.05.018. Epub 2015 May 27. 2015
9RYR1
Channel Gating Dependence on Pore Lining Helix Glycine Residues in Skeletal Muscle Ryanodine Receptor.
Mei Y, Xu L, Mowrey DD, Mendez Giraldez R, Wang Y, Pasek DA, Dokholyan NV, Meissner G.
J Biol Chem 290(28):17535-45. doi: 10.1074/jbc.M115.659672. Epub 2015 May 21. 2015
10ASPH, RYR1
A new cytoplasmic interaction between junctin and ryanodine receptor Ca2+ release channels.
Li L, Mirza S, Richardson SJ, Gallant EM, Thekkedam C, Pace SM, Zorzato F, Liu D, Beard NA, Dulhunty AF.
J Cell Sci 128(5):951-63. doi: 10.1242/jcs.160689. Epub 2015 Jan 20. 2015
11RYR1
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER.
Acta Neuropathol Commun 2:148. doi: 10.1186/s40478-014-0148-0. 2014
12RYR1
Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain.
Lau K, Van Petegem F.
Nat Commun 5:5397. doi: 10.1038/ncomms6397. 2014
13RYR1, RYR2
Two regions of the ryanodine receptor calcium channel are involved in Ca(2+)-dependent inactivation.
Gomez AC, Yamaguchi N.
Biochemistry 53(8):1373-9. doi: 10.1021/bi401586h. Epub 2014 Feb 21. 2014
14MHS1, RYR1
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW, Bina S, Wong CA, Wallace T, Visoiu M, Isackson PJ, Vladutiu GD, Sambuughin N, Muldoon SM.
Anesth Analg 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. Epub 2013 Apr 4. 2013
15CCO, MMDO, RYR1
Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum.
Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG.
Neurology 80(17):1584-1589. Epub 2013 Apr 3. 2013
16FKBP1A, RYR1
N-terminal and Central Segments of the Type 1 Ryanodine Receptor Mediate its Interaction with FK506 Binding Proteins.
Girgenrath T, Mahalingam M, Svensson B, Nitu FR, Cornea RL, Fessenden JD.
J Biol Chem Biol Chem. 2013 Apr 12. [Epub ahead of print] 2013
17RYR1
Structural determination of the phosphorylation domain of the ryanodine receptor.
Sharma P, Ishiyama N, Nair U, Li W, Dong A, Miyake T, Wilson A, Ryan T, MacLennan DH, Kislinger T, Ikura M, Dhe-Paganon S, Gramolini AO.
FEBS J 279(20):3952-64. doi: 10.1111/j.1742-4658.2012.08755.x. Epub 2012 Sep 11. 2012
18FKBP1A, RYR1
Calcium leak through ryanodine receptor is involved in neuronal death induced by mutant huntingtin.
Suzuki M, Nagai Y, Wada K, Koike T.
Biochem Biophys Res Commun 429(1-2):18-23. doi: 10.1016/j.bbrc.2012.10.107. Epub 2012 Nov 3. 2012
19CCO, MMDO, RYR1
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.
Hum Mutat 33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310. 2012
20FKBP1A, RYR1
Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels.
Wen H, Kang S, Song Y, Song Y, Yang HJ, Kim MH, Park S.
Arch Biochem Biophys 517(1):37-42. doi: 10.1016/j.abb.2011.11.004. Epub 2011 Nov 11. 2012
21CCO, MMDO, RYR1
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.
Hum Mutat 33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310. 2012
22CAV3, RYR1
Characterization of the molecular architecture of human caveolin-3 and interaction with the skeletal muscle ryanodine receptor.
Whiteley G, Collins RF, Kitmitto A.
J Biol Chem 287(48):40302-16. doi: 10.1074/jbc.M112.377085. 2012
23RYR1, RYR2, RYR3
Bidirectional coupling between ryanodine receptors and Ca2+ release-activated Ca2+ (CRAC) channel machinery sustains store-operated Ca2+ entry in human T lymphocytes.
Thakur P, Dadsetan S, Fomina AF.
J Biol Chem 287(44):37233-44. doi: 10.1074/jbc.M112.398974. Epub 2012 Sep 4. 2012
24FKBP1A, ITPR1, RYR1, RYR3
Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels.
Wen H, Kang S, Song Y, Song Y, Yang HJ, Kim MH, Park S.
Arch Biochem Biophys 517(1):37-42. doi: 10.1016/j.abb.2011.11.004. Epub 2011 Nov 11. 2012
25MHS1, RYR1
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H.
Neuromuscul Disord 21(6):420-7. Epub 2011 Apr 22. 2011
26RYR1
Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging.
Andersson DC, Betzenhauser MJ, Reiken S, Meli AC, Umanskaya A, Xie W, Shiomi T, Zalk R, Lacampagne A, Marks AR.
Cell Metab 14(2):196-207. doi: 10.1016/j.cmet.2011.05.014. 2011
27RYR1
S100A1 and calmodulin regulation of ryanodine receptor in striated muscle.
Prosser BL, Hernández-Ochoa EO, Schneider MF.
Cell Calcium 50(4):323-31. doi: 10.1016/j.ceca.2011.06.001. Epub 2011 Jul 23. Review. 2011
28CHERP, RYR1
Identification of novel ryanodine receptor 1 (RyR1) protein interaction with calcium homeostasis endoplasmic reticulum protein (CHERP).
Ryan T, Sharma P, Ignatchenko A, MacLennan DH, Kislinger T, Gramolini AO.
J Biol Chem 286(19):17060-8. doi: 10.1074/jbc.M110.197186. Epub 2011 Mar 14. 2011
29RYR1
The elusive role of the SPRY2 domain in RyR1.
Tae H, Wei L, Willemse H, Mirza S, Gallant EM, Board PG, Dirksen RT, Casarotto MG, Dulhunty A.
Channels (Austin) 5(2):148-60. Epub 2011 Mar 1. 2011
30CALM1, RYR1, S100A1
Modulation of sarcoplasmic reticulum Ca2+ release in skeletal muscle expressing ryanodine receptor impaired in regulation by calmodulin and S100A1.
Yamaguchi N, Prosser BL, Ghassemi F, Xu L, Pasek DA, Eu JP, Hernández-Ochoa EO, Cannon BR, Wilder PT, Lovering RM, Weber D, Melzer W, Schneider MF, Meissner G.
Am J Physiol Cell Physiol 300(5):C998-C1012. doi: 10.1152/ajpcell.00370.2010. Epub 2011 Feb 2. 2011
31ATP2A2, RYR1, RYR2, RYR3
Identification of functionally segregated sarcoplasmic reticulum calcium stores in pulmonary arterial smooth muscle.
Clark JH, Kinnear NP, Kalujnaia S, Cramb G, Fleischer S, Jeyakumar LH, Wuytack F, Evans AM.
J Biol Chem 285(18):13542-9. Epub 2010 Feb 21. 2010
32MMDO, RYR1
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.
Hum Mutat 31(7):E1544-50. 2010
33CCO, RYR1
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H.
Ann Neurol 68(5):717-26. doi: 10.1002/ana.22119. 2010
34RYR1
RyR1-mediated Ca2+ leak and Ca2+ entry determine resting intracellular Ca2+ in skeletal myotubes.
Eltit JM, Yang T, Li H, Molinski TF, Pessah IN, Allen PD, Lopez JR.
J Biol Chem 285(18):13781-7. doi: 10.1074/jbc.M110.107300. Epub 2010 Mar 5. 2010
35RYR1
Ryanodine modification of RyR1 retrogradely affects L-type Ca(2+) channel gating in skeletal muscle.
Bannister RA, Beam KG.
J Muscle Res Cell Motil 30(5-6):217-23. doi: 10.1007/s10974-009-9190-0. Epub 2009 Oct 3. 2009
36RYR1
Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling.
Kimura T, Lueck JD, Harvey PJ, Pace SM, Ikemoto N, Casarotto MG, Dirksen RT, Dulhunty AF.
Cell Calcium 45(3):264-74. doi: 10.1016/j.ceca.2008.11.005. Epub 2009 Jan 7. 2009
37MHS1, RYR1
Analysis of RYR1 haplotype profile in patients with malignant hyperthermia.
Carpenter D, Morris A, Robinson RL, Booms P, Iles D, Halsall PJ, Steele D, Hopkins PM, Shaw MA.
Ann Hum Genet 73(1):10-8. doi: 10.1111/j.1469-1809.2008.00482.x. Epub 2008 Oct 15. 2009
38CLIC2, RYR1
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy.
Meng X, Wang G, Viero C, Wang Q, Mi W, Su XD, Wagenknecht T, Williams AJ, Liu Z, Yin CC.
J Mol Biol 387(2):320-34. doi: 10.1016/j.jmb.2009.01.059. Epub 2009 Feb 4. 2009
39CCO, RYR1
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J.
Hum Mutat 29(5):670-8. 2008
40RYR1, SEPN1
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
Jurynec MJ, Xia R, Mackrill JJ, Gunther D, Crawford T, Flanigan KM, Abramson JJ, Howard MT, Grunwald DJ.
Proc Natl Acad Sci U S A 105(34):12485-90. Epub 2008 Aug 19. 2008
41RYR1, TRPC3
TRPC3-interacting triadic proteins in skeletal muscle.
Woo JS, Kim do H, Allen PD, Lee EH.
Biochem J 411(2):399-405.PMID: 18215135 2008
42RYR1, RYR3
Type 1 and type 3 ryanodine receptors are selectively involved in muscarinic antinociception in mice: an antisense study.
Galeotti N, Quattrone A, Vivoli E, Bartolini A, Ghelardini C.
Neuroscience 153(3):814-22. doi: 10.1016/j.neuroscience.2008.01.087. Epub 2008 Mar 7. 2008
43RYR1, CCO
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT.
Hum Mutat 28(1):61-8. 2007
44RYR1
Identification of functional type 1 ryanodine receptors in human dendritic cells.
Uemura Y, Liu TY, Narita Y, Suzuki M, Ohshima S, Mizukami S, Ichihara Y, Kikuchi H, Matsushita S.
Biochem Biophys Res Commun 362(2):510-5. Epub 2007 Aug 13. 2007
45CCO, RYR1
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F.
Neuromuscul Disord 17(4):338-45. Epub 2007 Mar 21. 2007
46CCO, RYR1
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue PM, Paim JF, Navarro MM, Silva HC, Pavanello RC, Gurgel-Giannetti J, Zatz M, Vainzof M.
Muscle Nerve 35(5):670-4. 2007
47RYR1, RYR3
Systemic ablation of RyR3 alters Ca2+ spark signaling in adult skeletal muscle.
Weisleder N, Ferrante C, Hirata Y, Collet C, Chu Y, Cheng H, Takeshima H, Ma J.
Cell Calcium 42(6):548-55. Epub 2007 Apr 6. 2007
48CCO, RYR1
Characterization of recessive RYR1 mutations in core myopathies.
Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S.
Hum Mol Genet 15(18):2791-803. Epub 2006 Aug 29. 2006
49RYR1, MMDO
Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies.
Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F.
Am J Hum Genet 79(5):859-68. Epub 2006 Sep 21. 2006
50RYR1, CCO, MHS1
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
Hum Mutat 27(10):977-89. Review. 2006
51RYR1, CCO
Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
Brain 129(Pt 6):1470-80. Epub 2006 Apr 18. 2006
52FKBP1B, RYR1, RYR2
Enhancing calstabin binding to ryanodine receptors improves cardiac and skeletal muscle function in heart failure.
Wehrens XH, Lehnart SE, Reiken S, van der Nagel R, Morales R, Sun J, Cheng Z, Deng SX, de Windt LJ, Landry DW, Marks AR.
Proc Natl Acad Sci U S A 102(27):9607-12. Epub 2005 Jun 22. 2005
53ATP2A1, ATP2A2, DMPK, RYR1
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S.
Hum Mol Genet 14(15):2189-200. Epub 2005 Jun 22. 2005
54MHS1, MHS5, CACNA1S, RYR1
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Romero N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
Hum Mutat 26(5):413-25. 2005
55RYR1, MMDO
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F.
Neurology 65(12):1930-5. 2005
56RYR1, CCO
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG.
Am J Med Genet 124A(3):248-54. 2004
57RYR1, CCO
Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release.
Du GG, Khanna VK, Guo X, MacLennan DH.
Biochem J 382(Pt 2):557-64. 2004
58CCO, RYR1
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor
Zorzato F, Yamaguchi N, Xu L, Meissner G, Muller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S.
Hum Mol Genet 12(4):379-88. 2003
59CALM1, RYR1, RYR2
Molecular basis of calmodulin binding to cardiac muscle Ca(2+) release channel (ryanodine receptor).
Yamaguchi N, Xu L, Pasek DA, Evans KE, Meissner G.
J Biol Chem 278(26):23480-6. Epub 2003 Apr 21. 2003
60RYR1, MHS1
Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
Muniz VP, Silva HC, Tsanaclis AM, Vainzof M.
J Mol Neurosci 21(1):35-42. 2003
61RYR1, MMDO
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J.
Hum Mol Genet 12(10):1171-8. 2003
62MHS1, RYR1
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
McWilliams S, Nelson T, Sudo R, Zapata-Sudo G, Batti M, Sambuughin N.
Clin Genet 62(1):80-83. 2002
63CCO, MHS1, RYR1
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.
Hum Mutat 20(2):88-97. 2002
64CCO, RYR1
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Ferreiro A, Monnier N, Romero NB, Leroy JP, Bonnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P.
Ann Neurol 51(6):750-9. 2002
65CCO, RYR1
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F.
Neurology 59(2):284-7. 2002
66MHS1, RYR1
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE.
Am J Hum Genet 69(1):204-8. 2001
67CCO, RYR1
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J.
Hum Mol Genet 10(22):2581-92. 2001
68CCO, RYR1
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S.
Hum Mol Genet 10(25):2879-87. 2001
69CCO, MHS1, RYR1
Ryanodine receptor mutations in malignant hyperthermia and central core disease.
McCarthy TV, Quane KA, Lynch PJ.
Hum Mutat 15(5):410-7. 2000
70RYR1
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 9(10):1515-24. 2000
71CCO, RYR1
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 9(18):2599-608. 2000
72RYR1
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH.
Neurology 55(11):1689-96. 2000
73RYR1
Characterization of a calcium-regulation domain of the skeletal-muscle ryanodine receptor.
Hayek SM, Zhu X, Bhat MB, Zhao J, Takeshima H, Valdivia HH, Ma J.
Biochem J 351(Pt 1):57-65. 2000
74RYR1
Luminal loop of the ryanodine receptor: A pore-forming segment?
Balshaw D, et al.
Proc Natl Acad Sci U S A 96(7):3345-7. No abstract available 1999
75CCO, RYR1
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
Lynch PJ, et al.
Proc Natl Acad Sci U S A 96(7):4164-9. 1999
76RYR1
Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes.
Sei Y, et al.
J Biol Chem 274(9):5995-6002. 1999
77MHS1, RYR1
A case of discordance between genotype and phenotype in a malignant hyperthermia family.
Fortunato G, et al.
Eur J Hum Genet 7(4):415-20. 1999
78MHS1, RYR1
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV.
Hum Mutat 11(1):45-50. 1998
79MHS1, RYR1
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia : genotype-phenotype correlation.
Manning BM, et al.
Am J Hum Genet 62 : 599-609. 1998
80MHS1, RYR1
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree : correlation of the IVCT response with the affected and unaffected haplotypes.
Keating KE, et al.
J Med Genet 34 : 291-296. 1997
81MHS1, RYR1
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.
Adeokun AM, et al.
Am J Hum Genet 60 : 833-841. 1997
82RYR1, MHS1
RYR mutation G1021A (GLY341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.
Fagerlund T, et al.
Clin Genet 49 : 186-188. 1996
83RYR1
A complex satellite DNA polymorphism flanking the human ryanodine receptor gene (RYR1).
Wolz W, et al.
Cytogenet Cell Genet 72 : 215-216. 1996
84RYR1, RYR2, RYR3
The human cardiac muscle ryanodine receptor-calcium release channel : identification, primary structure and topological analysis.
Tunwell REA, et al.
Biochem J 318 : 477-487. 1996
85CCO, MHS1, RYR1
Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.
Fagerlund TH, et al.
Clin Genet 50 : 455-458. 1996
86RYR1
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.
Phillips MS, et al.
Genomics 34 : 24-41. 1996
87MHS1, RYR1
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility.
Alestršm A, et al.
Clin Genet 47 : 274-275. 1995
88MHS1, RYR1
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.
Deufel T, et al.
Am J Hum Genet 56 : 1334-1342. 1995
89MHS1, RYR1
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia : implications for diagnosis and heterogeneity studies.
Quane KA, et al.
Hum Mol Genet 3 : 471-476. 1994
90MHS1, RYR1, CCO
Mutation screening of the RYR1 gene in malignant hyperthermia : detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
Quane KA, et al.
Genomics 23 : 236-239. 1994
91RYR1, MHS1
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
Keating KE, et al.
Hum Mol Genet 3 : 1855-1858. 1994
92MHS1, RYR1
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
Phillips MS, et al.
Hum Mol Genet 3 : 2181-2186. 1994
93MHS1, RYR1, CCO
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
Quane KA, et al.
Nat Genet 5 : 51-55. 1993
94RYR1, CCO
A mutation in the human ryanodine receptor gene associated with central core disease.
Zhang Y, et al.
Nat Genet 5 : 46-50. 1993
95RYR1
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
Gillard EF, et al.
Genomics 13 : 1247-1254. 1992
96RYR1
High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families.
Iles DE, et al.
Genomics 14 : 749-754. 1992
97RYR1
Dinucleotide repeat polymorphism at the RYR1 locus (19q13.1).
Couch FJ, et al.
Nucleic Acids Res 19 : 5094. 1991
98RYR1
The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.
MacKenzie AE, et al.
Am J Hum Genet 46 : 1082-1089. 1990
99MHS1, RYR1
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
MacLennan DH, et al.
Nature 343 : 559-561. 1990
100RYR1
Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.
Zorzato F, Fujii J, Otsu K, Phillips M, Green NM, Lai FA, Meissner G, MacLennan DH.
J Biol Chem 265(4):2244-56. 1990
101MHS1, RYR1
Location of the human ryanodine receptor gene with respect to an established human chromosome 19 linkage group.
MacKenzie AE, et al.
Am J Hum Genet 45 : A149. 1989
102RYR1
Cloning and localization of the human calcium release channel (ryanodine receptor) gene to the proximal long arm (cen-q13.2) of human chromosome 19.
MacLennan DH, et al.
Am J Hum Genet 45 : A205. 1989
103RYR1
Molecular cloning and characterization of the ryanodine receptor/junctional channel complex cDNA from skeletal muscle sarcoplasmic reticulum.
Marks AR, et al.
Proc Natl Acad Sci U S A 86 : 8683-8687. 1989
104RYR1
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.
Takeshima H, et al.
Nature 339(6224):439-45. 1989