Literature DB >> 31851124

PharmGKB summary: very important pharmacogene information for CACNA1S.

Katrin Sangkuhl1, Robert T Dirksen2, Maria L Alvarellos1, Russ B Altman1,3,4,5, Teri E Klein1,5.   

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Year:  2020        PMID： 31851124      PMCID： PMC7008936          DOI： 10.1097/FPC.0000000000000393

Source DB:  PubMed          Journal:  Pharmacogenet Genomics        ISSN： 1744-6872            Impact factor:   2.000


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  95 in total

1.  Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.

Authors:  Antonella Pirone; Johann Schredelseker; Petronel Tuluc; Elvira Gravino; Giuliana Fortunato; Bernhard E Flucher; Antonella Carsana; Francesco Salvatore; Manfred Grabner
Journal:  Am J Physiol Cell Physiol       Date:  2010-09-22       Impact factor: 4.249

2.  Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.

Authors:  S H Kim; U K Kim; J J Chae; D J Kim; H Y Oh; B J Kim; C C Lee
Journal:  Nephrol Dial Transplant       Date:  2001-05       Impact factor: 5.992

3.  Genotype and phenotype analysis of patients with sporadic periodic paralysis.

Authors:  Chih-Chien Sung; Chih-Jen Cheng; Yi-Fen Lo; Mei-Shan Lin; Sung-Sen Yang; Yu-Chuan Hsu; Shih-Hua Lin
Journal:  Am J Med Sci       Date:  2012-04       Impact factor: 2.378

Review 4.  To fire the train: a second malignant-hyperthermia gene.

Authors:  K Hogan
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

5.  Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.

Authors:  Nicole Monnier; Renée Krivosic-Horber; Jean-François Payen; Geneviève Kozak-Ribbens; Yves Nivoche; Pascal Adnet; Hugo Reyford; Joël Lunardi
Journal:  Anesthesiology       Date:  2002-11       Impact factor: 7.892

6.  European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.

Authors:  P M Hopkins; H Rüffert; M M Snoeck; T Girard; K P E Glahn; F R Ellis; C R Müller; A Urwyler
Journal:  Br J Anaesth       Date:  2015-07-18       Impact factor: 9.166

Review 7.  Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Authors:  Sheila Riazi; Natalia Kraeva; Philip M Hopkins
Journal:  Anesthesiology       Date:  2018-01       Impact factor: 7.892

8.  Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.

Authors:  Annie W C Kung; K S Lau; G C Y Fong; Vivian Chan
Journal:  J Clin Endocrinol Metab       Date:  2004-03       Impact factor: 5.958

9.  Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.

Authors:  Bai-Xue Jia; Qi Yang; Sheng-Yun Li; Min Wan; Han Wang; Lin-Yu Huo; Ethan Zhao; Yu-Chuan Ding; Xun-Ming Ji; Xiu-Hai Guo
Journal:  Neurol Res       Date:  2014-09-12       Impact factor: 2.448

10.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822
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  2 in total

1.  Appraisal and development of evidence-based clinical decision support to enable perioperative pharmacogenomic application.

Authors:  Brittany A Borden; Ellie H Jhun; Keith Danahey; Emily Schierer; Jeffrey L Apfelbaum; Magdalena Anitescu; Randall Knoebel; Sajid Shahul; Tien M Truong; Mark J Ratain; Peter H O'Donnell
Journal:  Pharmacogenomics J       Date:  2021-08-10       Impact factor: 3.245

Review 2.  Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders-a scoping review.

Authors:  Luuk R van den Bersselaar; Madelief Gubbels; Sheila Riazi; Luc Heytens; Heinz Jungbluth; Nicol C Voermans; Marc M J Snoeck
Journal:  Can J Anaesth       Date:  2022-03-23       Impact factor: 6.713
  2 in total

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