Publications:

Effects of Remimazolam and Propofol on Ca2+ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation.

Biomed Research International

Watanabe, Tomoyuki T; Miyoshi, Hirotsugu H; Noda, Yuko Y; Narasaki, Soshi S; Morio, Atsushi A; Toyota, Yukari Y; Kimura, Hiroshi H; Mukaida, Keiko K; Yasuda, Toshimichi T; Tsutsumi, Yasuo M YM

Publication Date: 2021

Variant appearance in text: RYR1: Ser2345Arg

PubMed Link: 33490280

Variant Present in the following documents:

• Main text
• BMRI2021-8845129.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: RYR1: S2345R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

Biomed Research International

Zullo, Alberto A; Perrotta, Giuseppa G; D'Angelo, Rossana R; Ruggiero, Lucia L; Gravino, Elvira E; Del Vecchio, Luigi L; Santoro, Lucio L; Salvatore, Francesco F; Carsana, Antonella A

Publication Date: 2019

Variant appearance in text: RYR1: 7035C>A

PubMed Link: 31165076

Variant Present in the following documents:

• Main text
• BMRI2019-7638946.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: RYR1: S2345R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: RYR1: S2345R

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page