These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 1774074)

  • 1. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
    Gillard EF; Otsu K; Fujii J; Khanna VK; de Leon S; Derdemezi J; Britt BA; Duff CL; Worton RG; MacLennan DH
    Genomics; 1991 Nov; 11(3):751-5. PubMed ID: 1774074
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.
    Hogan K; Couch F; Powers PA; Gregg RG
    Anesth Analg; 1992 Sep; 75(3):441-8. PubMed ID: 1510267
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
    Gillard EF; Otsu K; Fujii J; Duff C; de Leon S; Khanna VK; Britt BA; Worton RG; MacLennan DH
    Genomics; 1992 Aug; 13(4):1247-54. PubMed ID: 1354642
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 2002 Aug; 20(2):88-97. PubMed ID: 12124989
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia.
    Otsu K; Nishida K; Kimura Y; Kuzuya T; Hori M; Kamada T; Tada M
    J Biol Chem; 1994 Apr; 269(13):9413-5. PubMed ID: 7511586
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
    Phillips MS; Khanna VK; De Leon S; Frodis W; Britt BA; MacLennan DH
    Hum Mol Genet; 1994 Dec; 3(12):2181-6. PubMed ID: 7881417
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 12883402
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.
    MacLennan DH; Otsu K; Fujii J; Zorzato F; Phillips MS; O'Brien PJ; Archibald AL; Britt BA; Gillard EF; Worton RG
    Symp Soc Exp Biol; 1992; 46():189-201. PubMed ID: 1341035
    [TBL] [Abstract][Full Text] [Related]  

  • 9. C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response.
    Steinfath M; Singh S; Scholz J; Becker K; Lenzen C; Wappler F; Köchling A; Roewer N; Schulte am Esch J
    J Mol Med (Berl); 1995 Jan; 73(1):35-40. PubMed ID: 7633940
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
    Lynch PJ; Krivosic-Horber R; Reyford H; Monnier N; Quane K; Adnet P; Haudecoeur G; Krivosic I; McCarthy T; Lunardi J
    Anesthesiology; 1997 Mar; 86(3):620-6. PubMed ID: 9066328
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families.
    Otsu K; Khanna VK; Archibald AL; MacLennan DH
    Genomics; 1991 Nov; 11(3):744-50. PubMed ID: 1774073
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
    MacLennan DH; Duff C; Zorzato F; Fujii J; Phillips M; Korneluk RG; Frodis W; Britt BA; Worton RG
    Nature; 1990 Feb; 343(6258):559-61. PubMed ID: 1967823
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
    Fujii J; Otsu K; Zorzato F; de Leon S; Khanna VK; Weiler JE; O'Brien PJ; MacLennan DH
    Science; 1991 Jul; 253(5018):448-51. PubMed ID: 1862346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.
    Tong J; Oyamada H; Demaurex N; Grinstein S; McCarthy TV; MacLennan DH
    J Biol Chem; 1997 Oct; 272(42):26332-9. PubMed ID: 9334205
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 1999 Oct; 8(11):2055-62. PubMed ID: 10484775
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.
    Otsu K; Phillips MS; Khanna VK; de Leon S; MacLennan DH
    Genomics; 1992 Jul; 13(3):835-7. PubMed ID: 1639409
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
    Miyoshi H; Yasuda T; Otsuki S; Kondo T; Haraki T; Mukaida K; Nakamura R; Hamada H; Kawamoto M
    Anesth Analg; 2015 Oct; 121(4):994-1000. PubMed ID: 26381711
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 9(10):1515-24. PubMed ID: 10888602
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.
    Girard T; Treves S; Censier K; Mueller CR; Zorzato F; Urwyler A
    Br J Anaesth; 2002 Oct; 89(4):571-9. PubMed ID: 12393358
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families.
    Kaufmann A; Kraft B; Michalek-Sauberer A; Weindlmayr M; Kress HG; Steinboeck F; Weigl LG
    Anesth Analg; 2012 May; 114(5):1017-25. PubMed ID: 22415532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.