BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 29344738)

  • 1. Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
    Kondo T; Yasuda T; Mukaida K; Otsuki S; Kanzaki R; Miyoshi H; Hamada H; Nishino I; Kawamoto M
    J Anesth; 2018 Apr; 32(2):174-181. PubMed ID: 29344738
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
    Wehner M; Rueffert H; Koenig F; Neuhaus J; Olthoff D
    Clin Genet; 2002 Aug; 62(2):135-46. PubMed ID: 12220451
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 25086907
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala.
    Wehner M; Rueffert H; Koenig F; Olthoff D
    Genet Test; 2003; 7(3):203-11. PubMed ID: 14641996
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 19685112
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
    Haraki T; Yasuda T; Mukaida K; Migita T; Hamada H; Kawamoto M
    Anesth Analg; 2011 Dec; 113(6):1461-7. PubMed ID: 21926372
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes.
    Wehner M; Rueffert H; Koenig F; Meinecke CD; Olthoff D
    Cell Calcium; 2003 Aug; 34(2):163-8. PubMed ID: 12810058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Effects of caffeine, halothane, and 4-chloro-m-cresol on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis.
    Bina S; Cowan G; Karaian J; Muldoon S; Mongan P; Bünger R
    Anesthesiology; 2006 Jan; 104(1):90-100. PubMed ID: 16394695
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations to Gly2370, Gly2373 or Gly2375 in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+-release channel (ryanodine receptor isoform 1).
    Du GG; Oyamada H; Khanna VK; MacLennan DH
    Biochem J; 2001 Nov; 360(Pt 1):97-105. PubMed ID: 11695996
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.
    Yang T; Ta TA; Pessah IN; Allen PD
    J Biol Chem; 2003 Jul; 278(28):25722-30. PubMed ID: 12732639
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Effects of Remimazolam on Intracellular Calcium Dynamics in Myotubes Derived from Patients with Malignant Hyperthermia and Functional Analysis of Type 1 Ryanodine Receptor Gene Variants.
    Miyoshi H; Otsuki S; Mukaida K; Kido K; Sumii A; Ikeda T; Noda Y; Yasuda T; Narasaki S; Kato T; Kamiya S; Horikawa YT; Tsutsumi YM
    Genes (Basel); 2023 Oct; 14(11):. PubMed ID: 38002952
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of human cultured myotubes responses mediated by ryanodine receptor 1.
    Kobayashi M; Mukaida K; Migita T; Hamada H; Kawamoto M; Yuge O
    Anaesth Intensive Care; 2011 Mar; 39(2):252-61. PubMed ID: 21485675
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.
    Johannsen S; Treves S; Müller CR; Mögele S; Schneiderbanger D; Roewer N; Schuster F
    Neuromuscul Disord; 2016 Jan; 26(1):21-5. PubMed ID: 26631338
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 15210166
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.
    Lopez JR; Kaura V; Diggle CP; Hopkins PM; Allen PD
    Br J Anaesth; 2018 Oct; 121(4):953-961. PubMed ID: 30236258
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 9(18):2599-608. PubMed ID: 11063719
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 18719443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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; 279(42):43838-46. PubMed ID: 15299003
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.