BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 38583293)

  • 1. Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
    Clayton JS; Vo C; Crane J; Scriba CK; Saker S; Larmonier T; Malfatti E; Romero NB; Ravenscroft G; Laing NG; Taylor RL
    Stem Cell Res; 2024 Jun; 77():103410. PubMed ID: 38583293
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
    Clayton JS; Vo C; Crane J; Scriba CK; Saker S; Larmonier T; Malfatti E; Romero NB; Ravenscroft G; Laing NG; Taylor RL
    Stem Cell Res; 2024 Jun; 77():103411. PubMed ID: 38582058
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV; Quane KA; Lynch PJ
    Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
    Kraeva N; Heytens L; Jungbluth H; Treves S; Voermans N; Kamsteeg E; Ceuterick-de Groote C; Baets J; Riazi S
    Neuromuscul Disord; 2015 Jul; 25(7):567-76. PubMed ID: 25958340
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
    Driver K; Vo C; Scriba CK; Saker S; Larmonier T; Malfatti E; Romero NB; Ravenscroft G; Laing NG; Taylor RL; Clayton JS
    Stem Cell Res; 2023 Dec; 73():103258. PubMed ID: 38029555
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Reduced threshold for store overload-induced Ca
    Chen W; Koop A; Liu Y; Guo W; Wei J; Wang R; MacLennan DH; Dirksen RT; Chen SRW
    Biochem J; 2017 Aug; 474(16):2749-2761. PubMed ID: 28687594
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Mutations in RYR1 in malignant hyperthermia and central core disease.
    Robinson R; Carpenter D; Shaw MA; Halsall J; Hopkins P
    Hum Mutat; 2006 Oct; 27(10):977-89. PubMed ID: 16917943
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
    Murayama T; Kurebayashi N; Ogawa H; Yamazawa T; Oyamada H; Suzuki J; Kanemaru K; Oguchi K; Iino M; Sakurai T
    Hum Mutat; 2016 Nov; 37(11):1231-1241. PubMed ID: 27586648
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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 A; 2004 Jan; 124A(3):248-54. PubMed ID: 14708096
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
    Treves S; Jungbluth H; Muntoni F; Zorzato F
    Curr Opin Pharmacol; 2008 Jun; 8(3):319-26. PubMed ID: 18313359
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
    Lawal TA; Wires ES; Terry NL; Dowling JJ; Todd JJ
    Orphanet J Rare Dis; 2020 May; 15(1):113. PubMed ID: 32381029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 2002 Sep; 32(3):143-51. PubMed ID: 12208234
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 2006 Jun; 129(Pt 6):1470-80. PubMed ID: 16621918
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Malignant hyperthermia and central core disease causative mutations in Swedish patients.
    Broman M; Islander G; Müller CR; Ranklev-Twetman E
    Acta Anaesthesiol Scand; 2007 Jan; 51(1):50-3. PubMed ID: 17081152
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.
    Parker R; Schiemann AH; Langton E; Bulger T; Pollock N; Bjorksten A; Gillies R; Hutchinson D; Roxburgh R; Stowell KM
    J Neuromuscul Dis; 2017; 4(2):147-158. PubMed ID: 28527222
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
    Jungbluth H; Lillis S; Zhou H; Abbs S; Sewry C; Swash M; Muntoni F
    Neuromuscul Disord; 2009 May; 19(5):344-7. PubMed ID: 19303294
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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; 2007 May; 35(5):670-4. PubMed ID: 17226826
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.