Literature DB >> 9450902

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

B M Manning1, K A Quane, P J Lynch, A Urwyler, V Tegazzin, R Krivosic-Horber, K Censier, G Comi, P Adnet, W Wolz, J Lunardi, C R Muller, T V McCarthy.   

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Year:  1998        PMID： 9450902     DOI： 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  8 in total

1.  Effects of peptide C corresponding to the Glu724-Pro760 region of the II-III loop of the DHP (dihydropyridine) receptor alpha1 subunit on the domain- switch-mediated activation of RyR1 (ryanodine receptor 1) Ca2+ channels.

Authors:  Mark L Bannister; Noriaki Ikemoto
Journal:  Biochem J       Date:  2006-02-15       Impact factor: 3.857

2.  Effects of conformational peptide probe DP4 on bidirectional signaling between DHPR and RyR1 calcium channels in voltage-clamped skeletal muscle fibers.

Authors:  Rotimi O Olojo; Erick O Hernández-Ochoa; Noriaki Ikemoto; Martin F Schneider
Journal:  Biophys J       Date:  2011-05-18       Impact factor: 4.033

3.  Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.

Authors:  V Barone; O Massa; E Intravaia; A Bracco; A Di Martino; V Tegazzin; S Cozzolino; V Sorrentino
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

4.  Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

Authors:  B M Manning; K A Quane; H Ording; A Urwyler; V Tegazzin; M Lehane; J O'Halloran; E Hartung; L M Giblin; P J Lynch; P Vaughan; K Censier; D Bendixen; G Comi; L Heytens; K Monsieurs; T Fagerlund; W Wolz; J J Heffron; C R Muller; T V McCarthy
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

5.  Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area.

Authors:  Mark L Bannister; Tomoyo Hamada; Takashi Murayama; Peta J Harvey; Marco G Casarotto; Angela F Dulhunty; Noriaki Ikemoto
Journal:  Biochem J       Date:  2007-01-01       Impact factor: 3.857

6.  Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Authors:  Anna Rubegni; Alessandro Malandrini; Claudia Dosi; Guja Astrea; Jacopo Baldacci; Carla Battisti; Giulia Bertocci; M Alice Donati; M Teresa Dotti; Antonio Federico; Fabio Giannini; Salvatore Grosso; Renzo Guerrini; Sara Lenzi; Maria A Maioli; Federico Melani; Eugenio Mercuri; Michele Sacchini; Simona Salvatore; Gabriele Siciliano; Deborah Tolomeo; Paola Tonin; Nila Volpi; Filippo M Santorelli; Denise Cassandrini
Journal:  Neurol Genet       Date:  2019-08-16

7.  Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Authors:  Werner Klingler; Sebastian Heiderich; Thierry Girard; Elvira Gravino; James Ja Heffron; Stephan Johannsen; Karin Jurkat-Rott; Henrik Rüffert; Frank Schuster; Marc Snoeck; Vincenzo Sorrentino; Vincenzo Tegazzin; Frank Lehmann-Horn
Journal:  Orphanet J Rare Dis       Date:  2014-01-16       Impact factor: 4.123

Review 8.  Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease.

Authors:  Erick O Hernández-Ochoa; Stephen J P Pratt; Richard M Lovering; Martin F Schneider
Journal:  Front Physiol       Date:  2016-01-12       Impact factor: 4.566
  8 in total

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