Publications:

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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: 14693T>C; Ile4898Thr

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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Loss-of-rescue of Ryr1I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP.

Scientific Reports

Germani, Serena S; Marchetti, Alessia Celeste AC; Guidarelli, Andrea A; Cantoni, Orazio O; Sorrentino, Vincenzo V; Zito, Ester E

Publication Date: 2022-11-30

Variant appearance in text: RYR1: I4898T

PubMed Link: 36450915

Variant Present in the following documents:

• Main text
• 41598_2022_Article_25198.pdf

View BVdb publication page

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Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.

Frontiers In Neurology

Chang, Xingzhi X; Wei, Risheng R; Wei, Cuijie C; Liu, Jieyu J; Qin, Lun L; Yan, Hui H; Ma, Yinan Y; Wang, Zhaoxia Z; Xiong, Hui H

Publication Date: 2022

Variant appearance in text: RYR1: 14693T>C

PubMed Link: 35693006

Variant Present in the following documents:

• Main text
• fneur-13-870285.pdf

View BVdb publication page

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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications

Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E

Publication Date: 2022-04-15

Variant appearance in text: RYR1: 14693T>C; Ile4898Thr

PubMed Link: 35428369

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1357.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: 14693T>C; I4898T

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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Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Bmc Pediatrics

Zhang, Yu Y; Yan, Hui H; Liu, Jieyu J; Yan, Huifang H; Ma, Yinan Y; Wei, Cuijie C; Wang, Zhaoxia Z; Xiong, Hui H; Chang, Xingzhi X

Publication Date: 2022-01-26

Variant appearance in text: RYR1: I4898T

PubMed Link: 35081925

Variant Present in the following documents:

• 12887_2021_Article_3024.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: rs118192170

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.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: 14693T>C; rs118192170

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Galleni Leão, Leonardo L; Santos Souza, Lucas L; Nogueira, Letícia L; Pavanello, Rita de Cássia Mingroni RCM; Gurgel-Giannetti, Juliana J; Reed, Umbertina C UC; Oliveira, Acary S B ASB; Cuperman, Thais T; Cotta, Ana A; FPaim, Julia J; Zatz, Mayana M; Vainzof, Mariz M

Publication Date: 2020-12

Variant appearance in text: RYR1: 14693T>C; Ile4898Thr

PubMed Link: 33458582

Variant Present in the following documents:

• Main text
• am-2020-04-274.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: I4898T

PubMed Link: 33255644

Variant Present in the following documents:

• Main text

View BVdb publication page

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In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Acta Neuropathologica Communications

Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2020-11-11

Variant appearance in text: RYR1: I4898T

PubMed Link: 33176865

Variant Present in the following documents:

• Main text
• 40478_2020_Article_1068.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: RYR1: 14693T>C; Ile4898Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 5

View BVdb publication page

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Cellular Stress in the Pathogenesis of Muscular Disorders-From Cause to Consequence.

International Journal Of Molecular Sciences

Mensch, Alexander A; Zierz, Stephan S

Publication Date: 2020-08-13

Variant appearance in text: RYR1: I4898T

PubMed Link: 32823799

Variant Present in the following documents:

• Main text
• ijms-21-05830.pdf

View BVdb publication page

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: RYR1: 14693T>C; I4898T

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes

Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P

Publication Date: 2020-05-11

Variant appearance in text: RYR1: 14693T>C; Ile4898Thr

PubMed Link: 32403337

Variant Present in the following documents:

• genes-11-00539-s001.pdf

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: I4898T

PubMed Link: 32381029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathologica

Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR

Publication Date: 2020-06

Variant appearance in text: RYR1: 14693T>C; Ile4898Thr

PubMed Link: 32236737

Variant Present in the following documents:

• Main text

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: MHS: I4898T

PubMed Link: 31874912

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RYR1: 14693T>C; I4898T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Nemaline myopathies: a current view.

Journal Of Muscle Research And Cell Motility

Sewry, Caroline A CA; Laitila, Jenni M JM; Wallgren-Pettersson, Carina C

Publication Date: 2019-06

Variant appearance in text: RYR1: I4898T

PubMed Link: 31228046

Variant Present in the following documents:

• 10974_2019_Article_9519.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: I4898T

PubMed Link: 31107960

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: Ile4898Thr

PubMed Link: 30499100

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: Ile4898Thr

PubMed Link: 30406384

Variant Present in the following documents:

• Main text
• 13311_2018_Article_677.pdf

View BVdb publication page

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Calcium Signaling in Vertebrate Development and Its Role in Disease.

International Journal Of Molecular Sciences

Paudel, Sudip S; Sindelar, Regan R; Saha, Margaret M

Publication Date: 2018-10-30

Variant appearance in text: RYR1: I4898T

PubMed Link: 30380695

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: 14693T>C; Ile4898Thr

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology

Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG

Publication Date: 2018-11

Variant appearance in text: RYR1: Ile4898Thr

PubMed Link: 30155738

Variant Present in the following documents:

• Main text
• 415_2018_Article_9033.pdf
• 415_2018_9033_MOESM1_ESM.pdf
• 415_2018_9033_MOESM3_ESM.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: 14693T>C

PubMed Link: 29701772

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Journal Of Clinical Neurology (Seoul, Korea)

Jeong, Ha Neul HN; Park, Hyung Jun HJ; Lee, Jung Hwan JH; Shin, Ha Young HY; Kim, Se Hoon SH; Kim, Seung Min SM; Choi, Young Chul YC

Publication Date: 2018-01

Variant appearance in text: RYR1: 14693T>C; I4898T

PubMed Link: 29629541

Variant Present in the following documents:

• Main text
• jcn-14-58.pdf

View BVdb publication page

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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: I4898T

PubMed Link: 28902675

Variant Present in the following documents:

• Main text

View BVdb publication page

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A chemical chaperone improves muscle function in mice with a RyR1 mutation.

Nature Communications

Lee, Chang Seok CS; Hanna, Amy D AD; Wang, Hui H; Dagnino-Acosta, Adan A; Joshi, Aditya D AD; Knoblauch, Mark M; Xia, Yan Y; Georgiou, Dimitra K DK; Xu, Jianjun J; Long, Cheng C; Amano, Hisayuki H; Reynolds, Corey C; Dong, Keke K; Martin, John C JC; Lagor, William R WR; Rodney, George G GG; Sahin, Ergun E; Sewry, Caroline C; Hamilton, Susan L SL

Publication Date: 2017-03-24

Variant appearance in text: RYR1: I4898T

PubMed Link: 28337975

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excitation-Contraction Coupling Alterations in Myopathies.

Journal Of Neuromuscular Diseases

Marty, Isabelle I; Fauré, Julien J

Publication Date: 2016-11-29

Variant appearance in text: RYR1: I4898T

PubMed Link: 27911331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Journal Of Neuromuscular Diseases

Cacheux, Marine M; Blum, Ariane A; Sébastien, Muriel M; Wozny, Anne Sophie AS; Brocard, Julie J; Mamchaoui, Kamel K; Mouly, Vincent V; Roux-Buisson, Nathalie N; Rendu, John J; Monnier, Nicole N; Krivosic, Renée R; Allen, Paul P; Lacour, Arnaud A; Lunardi, Joël J; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2015-11-20

Variant appearance in text: MHS: I4898T

PubMed Link: 27858745

Variant Present in the following documents:

• Main text
• jnd-2-4-jnd150073.pdf

View BVdb publication page

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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: I4898T

PubMed Link: 27855725

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: I4898T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: 14693T>C; rs118192170

PubMed Link: 26398623

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: I4898T

PubMed Link: 26238698

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: I4898T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Brain : A Journal Of Neurology

Ravenscroft, Gianina G; Laing, Nigel G NG; Bönnemann, Carsten G CG

Publication Date: 2015-02

Variant appearance in text: MHS: Ile4898Thr

PubMed Link: 25552303

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: I4898T

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

View BVdb publication page

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MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications

Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V

Publication Date: 2014-09-11

Variant appearance in text: RYR1: I4898T

PubMed Link: 25214167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Triadopathies: an emerging class of skeletal muscle diseases.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Dowling, James J JJ; Lawlor, Michael W MW; Dirksen, Robert T RT

Publication Date: 2014-10

Variant appearance in text: RYR1: I4898T

PubMed Link: 25168790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.

Bmc Research Notes

Cuperman, Thais T; Fernandes, Stephanie A SA; Lourenço, Naila C V NC; Yamamoto, Lydia U LU; Silva, Helga C A HC; Pavanello, Rita C M RC; Yamamoto, Guilherme L GL; Zatz, Mayana M; Oliveira, Acary S B AS; Vainzof, Mariz M

Publication Date: 2014-08-01

Variant appearance in text: RYR1: 14693T>C

PubMed Link: 25084811

Variant Present in the following documents:

• 1756-0500-7-487.pdf

View BVdb publication page

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Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: RYR1: 14693T>C

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 1

View BVdb publication page

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Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Plos One

Lefebvre, Romain R; Legrand, Claude C; Groom, Linda L; Dirksen, Robert T RT; Jacquemond, Vincent V

Publication Date: 2013

Variant appearance in text: MHS: I4898T

PubMed Link: 23308296

Variant Present in the following documents:

• Main text
• pone.0054042.pdf

View BVdb publication page

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Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Neuromuscular Disorders : Nmd

Kraeva, Natalia N; Zvaritch, Elena E; Rossi, Ann E AE; Goonasekera, Sanjeewa A SA; Zaid, Hilal H; Frodis, Wanda W; Kraev, Alexander A; Dirksen, Robert T RT; Maclennan, David H DH; Riazi, Sheila S

Publication Date: 2013-02

Variant appearance in text: RYR1: I4898T

PubMed Link: 23183335

Variant Present in the following documents:

• Main text

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Perspectives on: SGP symposium on mitochondrial physiology and medicine: molecular identities of mitochondrial Ca2+ influx mechanism: updated passwords for accessing mitochondrial Ca2+-linked health and disease.

The Journal Of General Physiology

O-Uchi, Jin J; Pan, Shi S; Sheu, Shey-Shing SS

Publication Date: 2012-06

Variant appearance in text: RYR1: I4898T

PubMed Link: 22641638

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• JGP_201210795.pdf

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Congenital myopathies: an update.

Current Neurology And Neuroscience Reports

Nance, Jessica R JR; Dowling, James J JJ; Gibbs, Elizabeth M EM; Bönnemann, Carsten G CG

Publication Date: 2012-04

Variant appearance in text: RYR1: Ile4898Thr

PubMed Link: 22392505

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Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

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

Yuen, Benjamin B; Boncompagni, Simona S; Feng, Wei W; Yang, Tianzhong T; Lopez, Jose R JR; Matthaei, Klaus I KI; Goth, Samuel R SR; Protasi, Feliciano F; Franzini-Armstrong, Clara C; Allen, Paul D PD; Pessah, Isaac N IN

Publication Date: 2012-03

Variant appearance in text: RYR1: I4898T

PubMed Link: 22131268

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Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.

The Journal Of Physiology

Lefebvre, Romain R; Legrand, Claude C; González-Rodríguez, Estela E; Groom, Linda L; Dirksen, Robert T RT; Jacquemond, Vincent V

Publication Date: 2011-11-15

Variant appearance in text: MHS: I4898T

PubMed Link: 21969454

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Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.

The Journal Of General Physiology

Loy, Ryan E RE; Orynbayev, Murat M; Xu, Le L; Andronache, Zoita Z; Apostol, Simona S; Zvaritch, Elena E; MacLennan, David H DH; Meissner, Gerhard G; Melzer, Werner W; Dirksen, Robert T RT

Publication Date: 2011-01

Variant appearance in text: RYR1: I4898T

PubMed Link: 21149547

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• JGP_201010523.pdf

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Ryanodine receptors: structure, expression, molecular details, and function in calcium release.

Cold Spring Harbor Perspectives In Biology

Lanner, Johanna T JT; Georgiou, Dimitra K DK; Joshi, Aditya D AD; Hamilton, Susan L SL

Publication Date: 2010-11

Variant appearance in text: RYR1: Ile4898Thr

PubMed Link: 20961976

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Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

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

Zvaritch, Elena E; Kraeva, Natasha N; Bombardier, Eric E; McCloy, Robert A RA; Depreux, Frederic F; Holmyard, Douglas D; Kraev, Alexander A; Seidman, Christine E CE; Seidman, J G JG; Tupling, A Russell AR; MacLennan, David H DH

Publication Date: 2009-12-22

Variant appearance in text: RYR1: I4898T

PubMed Link: 19959667

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An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.

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

Zvaritch, Elena E; Depreux, Frederic F; Kraeva, Natasha N; Loy, Ryan E RE; Goonasekera, Sanjeewa A SA; Boncompagni, Simona S; Boncompagi, Simona S; Kraev, Alexander A; Gramolini, Anthony O AO; Dirksen, Robert T RT; Franzini-Armstrong, Clara C; Seidman, Christine E CE; Seidman, J G JG; Maclennan, David H DH

Publication Date: 2007-11-20

Variant appearance in text: RYR1: I4898T

PubMed Link: 18003898

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Central core disease.

Orphanet Journal Of Rare Diseases

Jungbluth, Heinz H

Publication Date: 2007-05-15

Variant appearance in text: RYR1: I4898T

PubMed Link: 17504518

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Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Biophysical Journal

Dirksen, Robert T RT; Avila, Guillermo G

Publication Date: 2004-11

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PubMed Link: 15347586

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Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.

The Journal Of General Physiology

Avila, G G; Dirksen, R T RT

Publication Date: 2001-09

Variant appearance in text: RYR1: I4898T

PubMed Link: 11524458

Variant Present in the following documents:

• 8443.pdf

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