Literature DB >> 26709912

PharmGKB summary: very important pharmacogene information for RYR1.

Maria L Alvarellos1, Ronald M Krauss, Russell A Wilke, Russ B Altman, Teri E Klein.   

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Year:  2016        PMID: 26709912      PMCID: PMC4738161          DOI: 10.1097/FPC.0000000000000198

Source DB:  PubMed          Journal:  Pharmacogenet Genomics        ISSN: 1744-6872            Impact factor:   2.089


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  78 in total

1.  Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.

Authors:  S L Stewart; K Hogan; H Rosenberg; J E Fletcher
Journal:  Clin Genet       Date:  2001-03       Impact factor: 4.438

Review 2.  Caffeine and excitation-contraction coupling in skeletal muscle: a stimulating story.

Authors:  A Herrmann-Frank; H C Lüttgau; D G Stephenson
Journal:  J Muscle Res Cell Motil       Date:  1999-02       Impact factor: 2.698

Review 3.  Skeletal muscle excitation-contraction coupling: who are the dancing partners?

Authors:  Robyn T Rebbeck; Yamuna Karunasekara; Philip G Board; Nicole A Beard; Marco G Casarotto; Angela F Dulhunty
Journal:  Int J Biochem Cell Biol       Date:  2013-12-24       Impact factor: 5.085

4.  Malignant hyperthermia testing in probands without adverse anesthetic reaction.

Authors:  Matthew A Timmins; Henry Rosenberg; Marilyn Green Larach; Carly Sterling; Natalia Kraeva; Sheila Riazi
Journal:  Anesthesiology       Date:  2015-09       Impact factor: 7.892

5.  Ca2+ uptake and Ca2+ release by skeletal muscle sarcoplasmic reticulum: differing sensitivity to inhalational anesthetics.

Authors:  T E Nelson; T Sweo
Journal:  Anesthesiology       Date:  1988-10       Impact factor: 7.892

Review 6.  Individualized risk for statin-induced myopathy: current knowledge, emerging challenges and potential solutions.

Authors:  QiPing Feng; Russell A Wilke; Tesfaye M Baye
Journal:  Pharmacogenomics       Date:  2012-04       Impact factor: 2.533

7.  Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i.

Authors:  José R López; Nancy Linares; Isaac N Pessah; Paul D Allen
Journal:  Am J Physiol Cell Physiol       Date:  2004-11-10       Impact factor: 4.249

8.  Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene.

Authors:  H Takeshima; M Iino; H Takekura; M Nishi; J Kuno; O Minowa; H Takano; T Noda
Journal:  Nature       Date:  1994-06-16       Impact factor: 49.962

9.  Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP.

Authors:  Paula L Diaz-Sylvester; Maura Porta; Julio A Copello
Journal:  Am J Physiol Cell Physiol       Date:  2008-02-27       Impact factor: 4.249

10.  Dantrolene-induced inhibition of skeletal L-type Ca2+ current requires RyR1 expression.

Authors:  R A Bannister
Journal:  Biomed Res Int       Date:  2012-12-05       Impact factor: 3.411

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  4 in total

Review 1.  Germline genetic variants with implications for disease risk and therapeutic outcomes.

Authors:  Amy L Pasternak; Kristen M Ward; Jasmine A Luzum; Vicki L Ellingrod; Daniel L Hertz
Journal:  Physiol Genomics       Date:  2017-09-08       Impact factor: 3.107

Review 2.  Pharmacogenomic considerations for medications in the perioperative setting.

Authors:  Ellie H Jhun; Jeffrey L Apfelbaum; David M Dickerson; Sajid Shahul; Randall Knoebel; Keith Danahey; Mark J Ratain; Peter H O'Donnell
Journal:  Pharmacogenomics       Date:  2019-07       Impact factor: 2.638

Review 3.  Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine.

Authors:  Deirdre P Campion; Fiona J Dowell
Journal:  Front Vet Sci       Date:  2019-02-11

4.  Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Authors:  Joshua J Todd; Muslima S Razaqyar; Jessica W Witherspoon; Tokunbor A Lawal; Ami Mankodi; Irene C Chrismer; Carolyn Allen; Mary D Meyer; Anna Kuo; Monique S Shelton; Kim Amburgey; Dmitriy Niyazov; Pierre Fequiere; Carsten G Bönnemann; James J Dowling; Katherine G Meilleur
Journal:  Front Neurol       Date:  2018-03-05       Impact factor: 4.003

  4 in total

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