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.S., Green N.M., Lai F.A., Meissner G., Maclennan D.H.J. Biol. Chem. 265:2244-2256(1990)
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1)
gene in individuals with malignant hyperthermia.Gillard E.F., Otsu K., Fujii J., Duff C.L., de Leon S., Khanna V.K., Britt B.A., Worton R.G., McLennan D.H.Genomics 13:1247-1254(1992)
A mutation in the human ryanodine receptor gene associated with central core disease.Zhang Y., Chen H.S., Khanna V.K., de Leon S., Phillips M.S., Schappert K.T., Britt B.A., Brownell A.K.W., McLennan D.H.Nat. Genet. 5:46-50(1993)
The structural organization of the human skeletal muscle ryanodine receptor (RYR1)
gene.Phillips M.S., Fujii J., Khanna V.K., de Leon S., Yokobata K., de Jong P.J., McLennan D.H.Genomics 34:24-41(1996)
The DNA sequence and biology of human chromosome 19.Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.Nature 428:529-535(2004)
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.Otsu K., Phillips M.S., Khanna V.K., de Leon S., McLennan D.H.Genomics 13:835-837(1992)
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.Gillard E.F., Otsu K., Fujii J., Khanna V.K., de Leon S., Derdemezi J., Britt B.A., Duff C.L., Worton R.G., MacLennan D.H.Genomics 11:751-755(1991)
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.Moroni I., Gonano E.F., Comi G.P., Tegazzin V., Prelle A., Bordoni A., Bresolin N., Scarlato G.J. Neurol. 242:127-133(1995)
Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle.Lynn S., Morgan J.M., Lamb H.K., Meissner G., Gillespie J.I.FEBS Lett. 372:6-12(1995)
Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum.Martin C., Chapman K.E., Seckl J.R., Ashley R.H.Neuroscience 85:205-216(1998)
Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO.Sun J., Xin C., Eu J.P., Stamler J.S., Meissner G.Proc. Natl. Acad. Sci. U.S.A. 98:11158-11162(2001)
S100A1 and calmodulin compete for the same binding site on ryanodine receptor.Wright N.T., Prosser B.L., Varney K.M., Zimmer D.B., Schneider M.F., Weber D.J.J. Biol. Chem. 283:26676-26683(2008)
Remodeling of ryanodine receptor complex causes 'leaky' channels
a molecular mechanism for decreased exercise capacity.Bellinger A.M., Reiken S., Dura M., Murphy P.W., Deng S.X., Landry D.W., Nieman D., Lehnart S.E., Samaru M., LaCampagne A., Marks A.R.Proc. Natl. Acad. Sci. U.S.A. 105:2198-2202(2008)
Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.Proteomics 8:1346-1361(2008)
Ryanodine receptors
structure, expression, molecular details, and function in calcium release.Lanner J.T., Georgiou D.K., Joshi A.D., Hamilton S.L.Cold Spring Harb. Perspect. Biol. 2:E3996-E3996(2010)
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Bohm J., Leshinsky-Silver E., Vassilopoulos S., Le Gras S., Lerman-Sagie T., Ginzberg M., Jost B., Lev D., Laporte J.Acta Neuropathol. 124:575-581(2012)
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Quane K.A., Healy J.M.S., Keating K.E., Manning B.M., Couch F.J., Palmucci L.M., Doriguzzi C., Fagerlund T.H., Berg K., Ording H., Bendixen D., Mortier W., Linz U., Muller C.R., McCarthy T.V.Nat. Genet. 5:51-55(1993)
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 K.A., Keating K.E., Healy J.M.S., Manning B.M., Krivosic-Horber R., Krivosic I., Monnier N., Lunardi J., McCarthy T.V.Genomics 23:236-239(1994)
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia
implications for diagnosis and heterogeneity studies.Quane K.A., Keating K.E., Manning B.M., Healy J.M.S., Monsieurs K., Heffron J.J.A., Lehane M., Heytens L., Krivosic-Horber R., Adnet P., Ellis F.R., Monnier N., Lunardi J., McCarthy T.V.Hum. Mol. Genet. 3:471-476(1994)
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.Keating K.E., Quane K.A., Manning B.M., Lehane M., Hartung E., Censier K., Urwyler A., Klausnitzer M., Muller C.R., Heffron J.J.A., McCarthy T.V.Hum. Mol. Genet. 3:1855-1858(1994)
The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.Phillips M.S., Khanna V.K., de Leon S., Frodis W., Britt B.A., McLennan D.H.Hum. Mol. Genet. 3:2181-2186(1994)
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.Lynch P.J., Krivosic-Horber R., Reyford H., Monnier N., Quane K.A., Adnet P., Haudecoeur G., Krivosic I., McCarthy T.V., Lunardi J.Anesthesiology 86:620-626(1997)
Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.Quane K.A., Ording H., Keating K.E., Manning B.M., Heine R., Bendixen D., Berg K., Krivosic-Horber R., Lehmann-Horn F., Fagerlund T.H., McCarthy T.V.Br. J. Anaesth. 79:332-337(1997)
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 K.E., Giblin L., Lynch P.J., Quane K.A., Lehane M., Heffron J.J.A., McCarthy T.V.J. Med. Genet. 34:291-296(1997)
Identification of novel mutations in the ryanodine-receptor gene (RYR1)
in malignant hyperthermia
genotype-phenotype correlation.Manning B.M., Quane K.A., Ording H., Urwyler A., Tegazzin V., Lehane M., O'Halloran J., Hartung E., Giblin L.M., Lynch P.J., Vaughan P., Censier K., Bendixen D., Comi G.P., Heytens L., Monsieurs K., Fagerlund T.H., Wolz W., Heffron J.J.A., Mueller C.R., McCarthy T.V.Am. J. Hum. Genet. 62:599-609(1998)
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.Manning B.M., Quane K.A., Lynch P.J., Urwyler A., Tegazzin V., Krivosic-Horber R., Censier K., Comi G.P., Adnet P., Wolz W., Lunardi J., Muller C.R., McCarthy T.V.3.3.CO;2-H>Hum. Mutat. 11:45-50(1998)
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families
novel mutations and concordance with the in vitro contracture test.Brandt A., Schleithoff L., Jurkat-Rott K., Klingler W., Baur C., Lehmann-Horn F.Hum. Mol. Genet. 8:2055-2062(1999)
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.Barone V., Massa O., Intravaia E., Bracco A., Di Martino A., Tegazzin V., Cozzolino S., Sorrentino V.J. Med. Genet. 36:115-118(1999)
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca(2+)
release channel function and severe central core disease.Lynch P.J., Tong J., Lehane M., Mallet A., Giblin L., Heffron J.J.A., Vaughan P., Zafra G., MacLennan D.H., McCarthy T.V.Proc. Natl. Acad. Sci. U.S.A. 96:4164-4169(1999)
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.Chamley D., Pollock N.A., Stowell K.M., Brown R.L.Br. J. Anaesth. 84:500-504(2000)
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.Brown R.L., Pollock A.N., Couchman K.G., Hodges M., Hutchinson D.O., Waaka R., Lynch P., McCarthy T.V., Stowell K.M.Hum. Mol. Genet. 9:1515-1524(2000)
Novel mutation in the RYR1 gene (R2454C)
in a patient with malignant hyperthermia.Gencik M., Gencik A., Mortier W., Epplen J.T.3.0.CO;2-A>Hum. Mutat. 15:122-122(2000)
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.Scacheri P.C., Hoffman E.P., Fratkin J.D., Semino-Mora C., Senchak A., Davis M.R., Laing N.G., Vedanarayanan V., Subramony S.H.Neurology 55:1689-1696(2000)
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 T.E.Am. J. Hum. Genet. 69:204-208(2001)
North American malignant hyperthermia population
screening of the ryanodine receptor gene and identification of novel mutations.Sambuughin N., Sei Y., Gallagher K.L., Wyre H.W., Madsen D., Nelson T.E., Fletcher J.E., Rosenberg H., Muldoon S.M.Anesthesiology 95:594-599(2001)
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 N.B., Lerale J., Landrieu P., Nivoche Y., Fardeau M., Lunardi J.Hum. Mol. Genet. 10:2581-2592(2001)
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 L.M., Schneider C., Hauser E., Lehmann-Horn F., Mueller C.R., Treves S.Hum. Mol. Genet. 10:2879-2887(2001)
Identification of a novel mutation in the ryanodine receptor gene (RYR1)
in patients with malignant hyperthermia.Rueffert H., Kraus H., Olthoff D., Deutrich C., Froster U.G.Hum. Mutat. 17:238-238(2001)
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.Sambuughin N., Nelson T.E., Jankovic J., Xin C., Meissner G., Mullakandov M., Ji J., Rosenberg H., Sivakumar K., Goldfarb L.G.Neuromuscul. Disord. 11:530-537(2001)
Mutation screening in the ryanodine receptor 1 gene (RYR1)
in patients susceptible to malignant hyperthermia who show definite IVCT results
identification of three novel mutations.Rueffert H., Olthoff D., Deutrich C., Meinecke C.D., Froster U.G.Acta Anaesthesiol. Scand. 46:692-698(2002)
Presence of two different genetic traits in malignant hyperthermia families
implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.Monnier N., Krivosic-Horber R., Payen J.-F., Kozak-Ribbens G., Nivoche Y., Adnet P., Reyford H., Lunardi J.Anesthesiology 97:1067-1074(2002)
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 N.B., Leroy J.-P., Boennemann C., Haenggeli C.-A., Straub V., Voss W.D., Nivoche Y., Jungbluth H., Lemainque A., Voit T., Lunardi J., Fardeau M., Guicheney P.Ann. Neurol. 51:750-759(2002)
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.Davis M., Brown R., Dickson A., Horton H., James D., Laing N., Marston R., Norgate M., Perlman D., Pollock N., Stowell K.Br. J. Anaesth. 88:508-515(2002)
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia
evidence for a cluster of novel mutations in the C-terminal region.Galli L., Orrico A., Cozzolino S., Pietrini V., Tegazzin V., Sorrentino V.Cell Calcium 32:143-151(2002)
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.McWilliams S., Nelson T., Sudo R.T., Zapata-Sudo G., Batti M., Sambuughin N.Clin. Genet. 62:80-83(2002)
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.Oyamada H., Oguchi K., Saitoh N., Yamazawa T., Hirose K., Kawana Y., Wakatsuki K., Oguchi K., Tagami M., Hanaoka K., Endo M., Iino M.Jpn. J. Pharmacol. 88:159-166(2002)
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.Jungbluth H., Muller C.R., Halliger-Keller B., Brockington M., Brown S.C., Feng L., Chattopadhyay A., Mercuri E., Manzur A.Y., Ferreiro A., Laing N.G., Davis M.R., Roper H.P., Dubowitz V., Bydder G., Sewry C.A., Muntoni F.Neurology 59:284-287(2002)
Detection of a novel ryanodine receptor subtype 1 mutation (R328W)
in a malignant hyperthermia family by sequencing of a leukocyte transcript.Loke J.C.P., Kraev N., Sharma P., Du G., Patel L., Kraev A., MacLennan D.H.Anesthesiology 99:297-302(2003)
Central core disease
clinical, pathological, and genetic features.Quinlivan R.M., Muller C.R., Davis M., Laing N.G., Evans G.A., Dwyer J., Dove J., Roberts A.P., Sewry C.A.Arch. Dis. Child. 88:1051-1055(2003)
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.Romero N.B., Monnier N., Viollet L., Cortey A., Chevallay M., Leroy J.P., Lunardi J., Fardeau M.Brain 126:2341-2349(2003)
Scanning for mutations of the ryanodine receptor (RYR1)
gene by denaturing HPLC
detection of three novel malignant hyperthermia alleles.Tammaro A., Bracco A., Cozzolino S., Esposito M., Di Martino A., Savoia G., Zeuli L., Piluso G., Aurino S., Nigro V.Clin. Chem. 49:761-768(2003)
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., Mueller C.R., Pouliquin P., Muntoni F., Sewry C., Girard T., Treves S.Hum. Mol. Genet. 12:379-388(2003)
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. 12:1171-1178(2003)
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.Davis M.R., Haan E., Jungbluth H., Sewry C., North K., Muntoni F., Kuntzer T., Lamont P., Bankier A., Tomlinson P., Sanchez A., Walsh P., Nagarajan L., Oley C., Colley A., Gedeon A., Quinlivan R., Dixon J., James D., Mueller C.R., Laing N.G.Neuromuscul. Disord. 13:151-157(2003)
Malignant hyperthermia in North America
genetic screening of the three hot spots in the type I ryanodine receptor gene.Sei Y., Sambuughin N.N., Davis E.J., Sachs D., Cuenca P.B., Brandom B.W., Tautz T., Rosenberg H., Nelson T.E., Muldoon S.M.Anesthesiology 101:824-830(2004)
Multiminicore disease in a family susceptible to malignant hyperthermia
histology, in vitro contracture tests, and genetic characterization.Guis S., Figarella-Branger D., Monnier N., Bendahan D., Kozak-Ribbens G., Mattei J.-P., Lunardi J., Cozzone P.J., Pellissier J.-F.Arch. Neurol. 61:106-113(2004)
RYR1 mutations in UK central core disease patients
more than just the C-terminal transmembrane region of the RYR1 gene.Shepherd S., Ellis F., Halsall J., Hopkins P., Robinson R.J. Med. Genet. 41:E33-E33(2004)
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.Marchant C.L., Ellis F.R., Halsall P.J., Hopkins P.M., Robinson R.L.Muscle Nerve 30:114-117(2004)
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 J.-F., Depret T., Maclennan D.H., Lunardi J.Hum. Mutat. 26:413-425(2005)
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 S.A., Straub V., Voit T., Swash M., Ferreiro A., Bydder G., Sewry C.A., Mueller C., Muntoni F.Neurology 65:1930-1935(2005)
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.Gambelli S., Malandrini A., Berti G., Gaudiano C., Zicari E., Brunori P., Perticoni G., Orrico A., Galli L., Sorrentino V., Lunardi J., Federico A., Dotti M.T.Clin. Genet. 71:93-94(2007)
Central core disease due to recessive mutations in RYR1 gene
is it more common than described?Kossugue P.M., Paim J.F., Navarro M.M., Silva H.C., Pavanello R.C.M., Gurgel-Giannetti J., Zatz M., Vainzof M.Muscle Nerve 35:670-674(2007)
Novel RYR1 missense mutation causes core rod myopathy.von der Hagen M., Kress W., Hahn G., Brocke K.S., Mitzscherling P., Huebner A., Muller-Reible C., Stoltenburg-Didinger G., Kaindl A.M.Eur. J. Neurol. 15:E31-E32(2008)
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 J.-J., Morava E., Rossi A., Van der Kooi A., de Visser M., Verschuuren C., Lunardi J.Hum. Mutat. 29:670-678(2008)
Increasing the number of diagnostic mutations in malignant hyperthermia.Levano S., Vukcevic M., Singer M., Matter A., Treves S., Urwyler A., Girard T.Hum. Mutat. 30:590-598(2009)
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., Muller C.R., Treves S.Anesth. Analg. 111:185-190(2010)
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.Clarke N.F., Waddell L.B., Cooper S.T., Perry M., Smith R.L.L., Kornberg A.J., Muntoni F., Lillis S., Straub V., Bushby K., Guglieri M., King M.D., Farrell M.A., Marty I., Lunardi J., Monnier N., North K.N.Hum. Mutat. 31:E1544-E1550(2010)
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.Tammaro A., Di Martino A., Bracco A., Cozzolino S., Savoia G., Andria B., Cannavo A., Spagnuolo M., Piluso G., Aurino S., Nigro V.Clin. Genet. 79:438-447(2011)
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Duarte S.T., Oliveira J., Santos R., Pereira P., Barroso C., Conceicao I., Evangelista T.Muscle Nerve 44:102-108(2011)
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Kim J.H., Jarvik G.P., Browning B.L., Rajagopalan R., Gordon A.S., Rieder M.J., Robertson P.D., Nickerson D.A., Fisher N.A., Hopkins P.M.Anesthesiology 119:1054-1065(2013)
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Brandom B.W., Bina S., Wong C.A., Wallace T., Visoiu M., Isackson P.J., Vladutiu G.D., Sambuughin N., Muldoon S.M.Anesth. Analg. 116:1078-1086(2013)
Novel RYR1 missense mutations in six Chinese patients with central core disease.Gu M., Zhang S., Hu J., Yuan Y., Wang Z., Da Y., Wu S.Neurosci. Lett. 566:32-35(2014)
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