Publications:

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Molecular Aspects Implicated in Dantrolene Selectivity with Respect to Ryanodine Receptor Isoforms.

International Journal Of Molecular Sciences

Gaburjakova, Jana J; Gaburjakova, Marta M

Publication Date: 2023-03-12

Variant appearance in text: RYR1: R163C

PubMed Link: 36982484

Variant Present in the following documents:

• Main text
• ijms-24-05409.pdf

View BVdb publication page

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Rapid Dantrolene Administration with Body Temperature Monitoring Is Associated with Decreased Mortality in Japanese Malignant Hyperthermia Events.

Biomed Research International

Toyota, Yukari Y; Kondo, Takashi T; Shorin, Daiki D; Sumii, Ayako A; Kido, Kenshiro K; Watanabe, Tomoyuki T; Otsuki, Sachiko S; Kanzaki, Rieko R; Miyoshi, Hirotsugu H; Yasuda, Toshimichi T; Horikawa, Yousuke T YT; Mukaida, Keiko K; Tsutsumi, Yasuo M YM

Publication Date: 2023

Variant appearance in text: RYR1: R163C

PubMed Link: 36874927

Variant Present in the following documents:

• BMRI2023-8340209.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RYR1: 487C>T; Arg163Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation.

Elife

Tammineni, Eshwar R ER; Figueroa, Lourdes L; Manno, Carlo C; Varma, Disha D; Kraeva, Natalia N; Ibarra, Carlos A CA; Klip, Amira A; Riazi, Sheila S; Rios, Eduardo E

Publication Date: 2023-02-01

Variant appearance in text: MHS: arg163cys

PubMed Link: 36724092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Scientific Reports

Summa, Sarinya S; Ittiwut, Chupong C; Kulsirichawaroj, Pimchanok P; Paprad, Tanitnun T; Likasitwattanakul, Surachai S; Sanmaneechai, Oranee O; Boonsimma, Ponghatai P; Suphapeetiporn, Kanya K; Shotelersuk, Vorasuk V

Publication Date: 2023-01-25

Variant appearance in text: RYR1: 487C>T; Arg163Cys

PubMed Link: 36697461

Variant Present in the following documents:

• 41598_2023_28405_MOESM1_ESM.pdf

View BVdb publication page

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Advances in CaV1.1 gating: New insights into permeation and voltage-sensing mechanisms.

Channels (Austin, Tex.)

Bibollet, Hugo H; Kramer, Audra A; Bannister, Roger A RA; Hernández-Ochoa, Erick O EO

Publication Date: 2023-12

Variant appearance in text: RYR1: R163C

PubMed Link: 36642864

Variant Present in the following documents:

• KCHL_17_2167569.pdf

View BVdb publication page

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Clinical Features of Suspected Malignant Hyperthermia in China from 2015 to 2020: A Retrospective Study from China Malignant Hyperthermia Emergency Assistance Group.

Journal Of Multidisciplinary Healthcare

Tan, Lingcan L; Teng, Yi Y; Yu, Hong H; Liu, Chunyuan C; Xiao, Kun K; Yin, Jin J; Zuo, Yunxia Y; Zhu, Tao T; Deng, Xiaoqian X

Publication Date: 2022

Variant appearance in text: RYR1: R163C

PubMed Link: 36601426

Variant Present in the following documents:

• jmdh-15-3005.pdf

View BVdb publication page

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Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.

Frontiers In Physiology

Zhang, Yadan Y; Rabesahala de Meritens, Camille C; Beckmann, Astrid A; Lai, F Anthony FA; Zissimopoulos, Spyros S

Publication Date: 2022

Variant appearance in text: RYR1: R163C

PubMed Link: 36311249

Variant Present in the following documents:

• Main text
• fphys-13-1032132.pdf

View BVdb publication page

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Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.

The Journal Of General Physiology

Tsuboi, Yoshitaka Y; Oyama, Kotaro K; Kobirumaki-Shimozawa, Fuyu F; Murayama, Takashi T; Kurebayashi, Nagomi N; Tachibana, Toshiaki T; Manome, Yoshinobu Y; Kikuchi, Emi E; Noguchi, Satoru S; Inoue, Takayoshi T; Inoue, Yukiko U YU; Nishino, Ichizo I; Mori, Shuichi S; Ishida, Ryosuke R; Kagechika, Hiroyuki H; Suzuki, Madoka M; Fukuda, Norio N; Yamazawa, Toshiko T

Publication Date: 2022-11-07

Variant appearance in text: RYR1: R163C

PubMed Link: 36200983

Variant Present in the following documents:

• Main text
• JGP_202213136.pdf

View BVdb publication page

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Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Oyama, Kotaro K; Zeeb, Vadim V; Yamazawa, Toshiko T; Kurebayashi, Nagomi N; Kobirumaki-Shimozawa, Fuyu F; Murayama, Takashi T; Oyamada, Hideto H; Noguchi, Satoru S; Inoue, Takayoshi T; Inoue, Yukiko U YU; Nishino, Ichizo I; Harada, Yoshie Y; Fukuda, Norio N; Ishiwata, Shin'ichi S; Suzuki, Madoka M

Publication Date: 2022-08-09

Variant appearance in text: RYR1: R163C

PubMed Link: 35925888

Variant Present in the following documents:

• pnas.202201286.pdf

View BVdb publication page

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Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Iyer, Kavita A KA; Hu, Yifan Y; Klose, Thomas T; Murayama, Takashi T; Samsó, Montserrat M

Publication Date: 2022-07-26

Variant appearance in text: RYR1: R163C

PubMed Link: 35867837

Variant Present in the following documents:

• pnas.202122140.pdf

View BVdb publication page

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High-Fat Diet Impairs Muscle Function and Increases the Risk of Environmental Heatstroke in Mice.

International Journal Of Molecular Sciences

Serano, Matteo M; Paolini, Cecilia C; Michelucci, Antonio A; Pietrangelo, Laura L; Guarnier, Flavia A FA; Protasi, Feliciano F

Publication Date: 2022-05-09

Variant appearance in text: MHS: R163C

PubMed Link: 35563676

Variant Present in the following documents:

• Main text
• ijms-23-05286.pdf

View BVdb publication page

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Chronic Elevation of Skeletal Muscle [Ca2+]i Impairs Glucose Uptake. An in Vivo and in Vitro Study.

Frontiers In Physiology

Uryash, Arkady A; Mijares, Alfredo A; Lopez, Carlos E CE; Adams, Jose A JA; Lopez, Jose R JR

Publication Date: 2022

Variant appearance in text: RYR1: R163C

PubMed Link: 35547584

Variant Present in the following documents:

• Main text
• fphys-13-872624.pdf

View BVdb publication page

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Store-Operated Ca2+ Entry in Skeletal Muscle Contributes to the Increase in Body Temperature during Exertional Stress.

International Journal Of Molecular Sciences

Girolami, Barbara B; Serano, Matteo M; Michelucci, Antonio A; Pietrangelo, Laura L; Protasi, Feliciano F

Publication Date: 2022-03-29

Variant appearance in text: RYR1: R163C

PubMed Link: 35409132

Variant Present in the following documents:

• Main text
• ijms-23-03772.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 487C>T; R163C

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Modulation of Ryanodine Receptors Activity Alters the Course of Experimental Autoimmune Encephalomyelitis in Mice.

Frontiers In Physiology

Osipchuk, Natalia C NC; Soulika, Athena M AM; Fomina, Alla F AF

Publication Date: 2021

Variant appearance in text: RYR1: R163C

PubMed Link: 35027891

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: RYR1: 487C>T; Arg163Trp

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.

Nature Communications

Yamazawa, Toshiko T; Kobayashi, Takuya T; Kurebayashi, Nagomi N; Konishi, Masato M; Noguchi, Satoru S; Inoue, Takayoshi T; Inoue, Yukiko U YU; Nishino, Ichizo I; Mori, Shuichi S; Iinuma, Hiroto H; Manaka, Noriaki N; Kagechika, Hiroyuki H; Uryash, Arkady A; Adams, Jose J; Lopez, Jose R JR; Liu, Xiaochen X; Diggle, Christine C; Allen, Paul D PD; Kakizawa, Sho S; Ikeda, Keigo K; Lin, Bangzhong B; Ikemi, Yui Y; Nunomura, Kazuto K; Nakagawa, Shinsaku S; Sakurai, Takashi T; Murayama, Takashi T

Publication Date: 2021-07-13

Variant appearance in text: RYR1: R163C

PubMed Link: 34257294

Variant Present in the following documents:

• Main text

View BVdb publication page

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A muscle fatigue-like contractile decline was recapitulated using skeletal myotubes from Duchenne muscular dystrophy patient-derived iPSCs.

Cell Reports. Medicine

Uchimura, Tomoya T; Asano, Toshifumi T; Nakata, Takao T; Hotta, Akitsu A; Sakurai, Hidetoshi H

Publication Date: 2021-06-15

Variant appearance in text: RYR1: R163C

PubMed Link: 34195678

Variant Present in the following documents:

• main.pdf
• mmc7.pdf

View BVdb publication page

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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine

Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB

Publication Date: 2021-05-11

Variant appearance in text: rs118192161

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG

Publication Date: 2021-07

Variant appearance in text: RYR1: Arg163Cys

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 7
• nihms-1689967.pdf

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: RYR1: 487C>T; rs118192161

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Calsequestrin: a well-known but curious protein in skeletal muscle.

Experimental & Molecular Medicine

Woo, Jin Seok JS; Jeong, Seung Yeon SY; Park, Ji Hee JH; Choi, Jun Hee JH; Lee, Eun Hui EH

Publication Date: 2020-12

Variant appearance in text: RYR1: R163C

PubMed Link: 33288873

Variant Present in the following documents:

• 12276_2020_Article_535.pdf

View BVdb publication page

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Calsequestrin: a well-known but curious protein in skeletal muscle.

Experimental & Molecular Medicine

Woo, Jin Seok JS; Jeong, Seung Yeon SY; Park, Ji Hee JH; Choi, Jun Hee JH; Lee, Eun Hui EH

Publication Date: 2020-12

Variant appearance in text: RYR1: R163C

PubMed Link: 33288873

Variant Present in the following documents:

• 12276_2020_Article_535.pdf

View BVdb publication page

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From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies.

International Journal Of Molecular Sciences

Sztretye, Mónika M; Szabó, László L; Dobrosi, Nóra N; Fodor, János J; Szentesi, Péter P; Almássy, János J; Magyar, Zsuzsanna É ZÉ; Dienes, Beatrix B; Csernoch, László L

Publication Date: 2020-11-25

Variant appearance in text: MHS: R163C

PubMed Link: 33255644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Skeletal Muscle

Lawal, Tokunbor A TA; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Bönnemann, Carsten G CG; Dowling, James J JJ; Hamilton, Susan L SL; Meilleur, Katherine G KG; Dirksen, Robert T RT

Publication Date: 2020-11-16

Variant appearance in text: RYR1: R163C

PubMed Link: 33190635

Variant Present in the following documents:

• Main text
• 13395_2020_Article_243.pdf

View BVdb publication page

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Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM.

Science Advances

Iyer, Kavita A KA; Hu, Yifan Y; Nayak, Ashok R AR; Kurebayashi, Nagomi N; Murayama, Takashi T; Samsó, Montserrat M

Publication Date: 2020-07

Variant appearance in text: RYR1: Arg163Cys

PubMed Link: 32832689

Variant Present in the following documents:

• abb2964.pdf

View BVdb publication page

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Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia.

The Journal Of Biological Chemistry

Chang, Leon L; Liu, Xiaochen X; Diggle, Christine P CP; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA; Allen, Paul D PD

Publication Date: 2020-11-06

Variant appearance in text: RYR1: R163C

PubMed Link: 32826313

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dietary Caffeine Synergizes Adverse Peripheral and Central Responses to Anesthesia in Malignant Hyperthermia Susceptible Mice.

Molecular Pharmacology

Aleman, Monica M; Zhang, Rui R; Feng, Wei W; Qi, Lihong L; Lopez, Jose R JR; Crowe, Chelsea C; Dong, Yao Y; Cherednichenko, Genady G; Pessah, Isaac N IN

Publication Date: 2020-10

Variant appearance in text: RYR1: R163C

PubMed Link: 32764093

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia.

Anesthesiology

Rafael Lopez, Jose J; Kaura, Vikas V; Hopkins, Phillip P; Liu, Xiaochen X; Uryach, Arkady A; Adams, Jose J; Allen, Paul D PD

Publication Date: 2020-08

Variant appearance in text: RYR1: R163C

PubMed Link: 32665491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases

Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ

Publication Date: 2020-05-07

Variant appearance in text: RYR1: Arg163Cys

PubMed Link: 32381029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sex-specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia-susceptible mice.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Rutkowsky, Jennifer M JM; Knotts, Trina A TA; Allen, Paul D PD; Pessah, Isaac N IN; Ramsey, Jon J JJ

Publication Date: 2020-06

Variant appearance in text: RYR1: R163C

PubMed Link: 32367593

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.

Elife

Volpatti, Jonathan R JR; Endo, Yukari Y; Knox, Jessica J; Groom, Linda L; Brennan, Stephanie S; Noche, Ramil R; Zuercher, William J WJ; Roy, Peter P; Dirksen, Robert T RT; Dowling, James J JJ

Publication Date: 2020-03-30

Variant appearance in text: RYR1: R163C

PubMed Link: 32223895

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.

Frontiers In Genetics

Graham, Brittany B; Shaw, Marie-Anne MA; Hope, Ian A IA

Publication Date: 2020

Variant appearance in text: RYR1: R163C

PubMed Link: 32174957

Variant Present in the following documents:

• Main text
• fgene-11-00037.pdf

View BVdb publication page

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Cored in the act: the use of models to understand core myopathies.

Disease Models & Mechanisms

Fusto, Aurora A; Moyle, Louise A LA; Gilbert, Penney M PM; Pegoraro, Elena E

Publication Date: 2019-12-19

Variant appearance in text: RYR1: R163C

PubMed Link: 31874912

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.

The Journal Of General Physiology

Yamazawa, Toshiko T; Ogawa, Haruo H; Murayama, Takashi T; Yamaguchi, Maki M; Oyamada, Hideto H; Suzuki, Junji J; Kurebayashi, Nagomi N; Kanemaru, Kazunori K; Oguchi, Katsuji K; Sakurai, Takashi T; Iino, Masamitsu M

Publication Date: 2020-01-06

Variant appearance in text: RYR1: R163C

PubMed Link: 31841587

Variant Present in the following documents:

• Main text
• JGP_201812235.pdf

View BVdb publication page

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Excessive Accumulation of Ca2 + in Mitochondria of Y522S-RYR1 Knock-in Mice: A Link Between Leak From the Sarcoplasmic Reticulum and Altered Redox State.

Frontiers In Physiology

Canato, Marta M; Capitanio, Paola P; Cancellara, Lina L; Leanza, Luigi L; Raffaello, Anna A; Reane, Denis Vecellio DV; Marcucci, Lorenzo L; Michelucci, Antonio A; Protasi, Feliciano F; Reggiani, Carlo C

Publication Date: 2019

Variant appearance in text: RYR1: R163C

PubMed Link: 31607937

Variant Present in the following documents:

• fphys-10-01142.pdf

View BVdb publication page

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Mouse model of severe recessive RYR1-related myopathy.

Human Molecular Genetics

Brennan, Stephanie S; Garcia-Castañeda, Maricela M; Michelucci, Antonio A; Sabha, Nesrin N; Malik, Sundeep S; Groom, Linda L; Wei LaPierre, Lan L; Dowling, James J JJ; Dirksen, Robert T RT

Publication Date: 2019-09-15

Variant appearance in text: RYR1: R163C

PubMed Link: 31107960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

British Journal Of Anaesthesia

Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA

Publication Date: 2019-05

Variant appearance in text: MHS: R163C

PubMed Link: 30916033

Variant Present in the following documents:

• Main text

View BVdb publication page

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Additional Safety Assessments Needed for Diamide Insecticides.

Toxicological Sciences : An Official Journal Of The Society Of Toxicology

Pessah, Isaac N IN; Truong, Kim K

Publication Date: 2019-03-04

Variant appearance in text: RYR1: R163C

PubMed Link: 30830166

Variant Present in the following documents:

• Main text

View BVdb publication page

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Is malignant hyperthermia associated with hyperglycaemia?

British Journal Of Anaesthesia

Altamirano, F F; Riazi, S S; Ibarra Moreno, C A CA; Kraeva, N N; Uryash, A A; Allen, P D PD; Adams, J A JA; Lopez, J R JR

Publication Date: 2019-01

Variant appearance in text: MHS: R163C

PubMed Link: 30579418

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Clinical Pharmacology And Therapeutics

Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG

Publication Date: 2019-06

Variant appearance in text: RYR1: Arg163Cys

PubMed Link: 30499100

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

Cell Calcium

Michelucci, Antonio A; García-Castañeda, Maricela M; Boncompagni, Simona S; Dirksen, Robert T RT

Publication Date: 2018-12

Variant appearance in text: RYR1: R163C

PubMed Link: 30414508

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Lawal, Tokunbor A TA; Todd, Joshua J JJ; Meilleur, Katherine G KG

Publication Date: 2018-10

Variant appearance in text: RYR1: Arg163Cys

PubMed Link: 30406384

Variant Present in the following documents:

• Main text
• 13311_2018_Article_677.pdf

View BVdb publication page

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Comparison of Chlorantraniliprole and Flubendiamide Activity Toward Wild-Type and Malignant Hyperthermia-Susceptible Ryanodine Receptors and Heat Stress Intolerance.

Toxicological Sciences : An Official Journal Of The Society Of Toxicology

Truong, Kim M KM; Pessah, Isaac N IN

Publication Date: 2019-02-01

Variant appearance in text: MHS: R163C

PubMed Link: 30329129

Variant Present in the following documents:

• Main text

View BVdb publication page

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Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.

British Journal Of Anaesthesia

Lopez, J R JR; Kaura, V V; Diggle, C P CP; Hopkins, P M PM; Allen, P D PD

Publication Date: 2018-10

Variant appearance in text: MHS: R163C

PubMed Link: 30236258

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia

Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM

Publication Date: 2018-10

Variant appearance in text: RYR1: 487C>T; Arg163Cys

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Aerobic Training Prevents Heatstrokes in Calsequestrin-1 Knockout Mice by Reducing Oxidative Stress.

Oxidative Medicine And Cellular Longevity

Guarnier, Flávia Alessandra FA; Michelucci, Antonio A; Serano, Matteo M; Pietrangelo, Laura L; Pecorai, Claudia C; Boncompagni, Simona S; Protasi, Feliciano F

Publication Date: 2018

Variant appearance in text: RYR1: R163C

PubMed Link: 29849896

Variant Present in the following documents:

• OMCL2018-4652480.pdf

View BVdb publication page

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Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.

Human Molecular Genetics

Suman, Matteo M; Sharpe, Jenny A JA; Bentham, Robert B RB; Kotiadis, Vassilios N VN; Menegollo, Michela M; Pignataro, Viviana V; Molgó, Jordi J; Muntoni, Francesco F; Duchen, Michael R MR; Pegoraro, Elena E; Szabadkai, Gyorgy G

Publication Date: 2018-07-01

Variant appearance in text: RYR1: 487C>T

PubMed Link: 29701772

Variant Present in the following documents:

• Main text
• ddy149.pdf

View BVdb publication page

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Voltage modulates halothane-triggered Ca2+ release in malignant hyperthermia-susceptible muscle.

The Journal Of General Physiology

Zullo, Alberto A; Textor, Martin M; Elischer, Philipp P; Mall, Stefan S; Alt, Andreas A; Klingler, Werner W; Melzer, Werner W

Publication Date: 2018-01-02

Variant appearance in text: MHS: R163C

PubMed Link: 29247050

Variant Present in the following documents:

• JGP_201711864.pdf

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Estrogens Protect Calsequestrin-1 Knockout Mice from Lethal Hyperthermic Episodes by Reducing Oxidative Stress in Muscle.

Oxidative Medicine And Cellular Longevity

Michelucci, Antonio A; Boncompagni, Simona S; Canato, Marta M; Reggiani, Carlo C; Protasi, Feliciano F

Publication Date: 2017

Variant appearance in text: RYR1: R163C

PubMed Link: 29062464

Variant Present in the following documents:

• Main text
• OMCL2017-6936897.pdf

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

Anesthesiology

Riazi, Sheila S; Kraeva, Natalia N; Hopkins, Philip M PM

Publication Date: 2018-01

Variant appearance in text: RYR1: R163C

PubMed Link: 28902675

Variant Present in the following documents:

• Main text

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Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Michelucci, Antonio A; Paolini, Cecilia C; Boncompagni, Simona S; Canato, Marta M; Reggiani, Carlo C; Protasi, Feliciano F

Publication Date: 2017-08

Variant appearance in text: MHS: R163C

PubMed Link: 28465322

Variant Present in the following documents:

• Main text

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Review of RyR1 pathway and associated pathomechanisms.

Acta Neuropathologica Communications

Witherspoon, Jessica W JW; Meilleur, Katherine G KG

Publication Date: 2016-11-17

Variant appearance in text: RYR1: R163C

PubMed Link: 27855725

Variant Present in the following documents:

• Main text
• 40478_2016_Article_392.pdf

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Use of HLA peptidomics and whole exome sequencing to identify human immunogenic neo-antigens.

Oncotarget

Kalaora, Shelly S; Barnea, Eilon E; Merhavi-Shoham, Efrat E; Qutob, Nouar N; Teer, Jamie K JK; Shimony, Nilly N; Schachter, Jacob J; Rosenberg, Steven A SA; Besser, Michal J MJ; Admon, Arie A; Samuels, Yardena Y

Publication Date: 2016-02-02

Variant appearance in text: RYR1: 487C>T; R163C

PubMed Link: 26819371

Variant Present in the following documents:

• oncotarget-07-5110-s002.xlsx, sheet 1

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

Frontiers In Physiology

Hernández-Ochoa, Erick O EO; Pratt, Stephen J P SJP; Lovering, Richard M RM; Schneider, Martin F MF

Publication Date: 2015

Variant appearance in text: RYR1: R163C

PubMed Link: 26793121

Variant Present in the following documents:

• fphys-06-00420.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MHS1: R163C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

Journal Of Athletic Training

Poussel, Mathias M; Guerci, Philippe P; Kaminsky, Pierre P; Heymonet, Marie M; Roux-Buisson, Nathalie N; Faure, Julien J; Fronzaroli, Emilien E; Chenuel, Bruno B

Publication Date: 2015-11

Variant appearance in text: RYR1: R163C

PubMed Link: 26565425

Variant Present in the following documents:

• Main text

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: RYR1: 487C>T; rs118192161

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics

Alvarellos, Maria L ML; McDonagh, Ellen M EM; Patel, Sephalie S; McLeod, Howard L HL; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2015-12

Variant appearance in text: MHS: 487C>T; rs118192161

PubMed Link: 26398623

Variant Present in the following documents:

• Main text

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Malignant hyperthermia: a review.

Orphanet Journal Of Rare Diseases

Rosenberg, Henry H; Pollock, Neil N; Schiemann, Anja A; Bulger, Terasa T; Stowell, Kathryn K

Publication Date: 2015-08-04

Variant appearance in text: RYR1: R163C

PubMed Link: 26238698

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RYR1: R163C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Nature

Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N

Publication Date: 2015-01-01

Variant appearance in text: MHS1: R163C

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: RYR1: 487C>T; rs118192161

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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Ca2+ influx via the Na+/Ca2+ exchanger is enhanced in malignant hyperthermia skeletal muscle.

The Journal Of Biological Chemistry

Altamirano, Francisco F; Eltit, José M JM; Robin, Gaëlle G; Linares, Nancy N; Ding, Xudong X; Pessah, Isaac N IN; Allen, Paul D PD; López, José R JR

Publication Date: 2014-07-04

Variant appearance in text: MHS: R163C

PubMed Link: 24847052

Variant Present in the following documents:

• Main text

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Myoplasmic resting Ca2+ regulation by ryanodine receptors is under the control of a novel Ca2+-binding region of the receptor.

The Biochemical Journal

Chen, Yanyi Y; Xue, Shenghui S; Zou, Juan J; Lopez, Jose R JR; Yang, Jenny J JJ; Perez, Claudio F CF

Publication Date: 2014-06-01

Variant appearance in text: RYR1: R163C

PubMed Link: 24635445

Variant Present in the following documents:

• bj4600261.pdf

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