Publications:

---

Insights into the role of intracellular calcium signaling in the neurobiology of neurodevelopmental disorders.

Frontiers In Neuroscience

Klocke, Benjamin B; Krone, Kylie K; Tornes, Jason J; Moore, Carter C; Ott, Hayden H; Pitychoutis, Pothitos M PM

Publication Date: 2023

Variant appearance in text: RYR1: T4826I

PubMed Link: 36875674

Variant Present in the following documents:

• Main text
• fnins-17-1093099.pdf

View BVdb publication page

---

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: 14477C>T; Thr4826Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: RYR1: 14477C>T; Thr4826Ile

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: T4826I

PubMed Link: 36200983

Variant Present in the following documents:

• JGP_202213136.pdf

View BVdb publication page

---

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: T4826I

PubMed Link: 35693006

Variant Present in the following documents:

• fneur-13-870285.pdf

View BVdb publication page

---

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: 14477C>T; T4826I

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium.

Frontiers In Neuroscience

Sethi, Sunjay S; Keil Stietz, Kimberly P KP; Valenzuela, Anthony E AE; Klocke, Carolyn R CR; Silverman, Jill L JL; Puschner, Birgit B; Pessah, Isaac N IN; Lein, Pamela J PJ

Publication Date: 2021

Variant appearance in text: RYR1: T4826I

PubMed Link: 34938155

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse.

Frontiers In Neuroscience

Keil Stietz, Kimberly P KP; Sethi, Sunjay S; Klocke, Carolyn R CR; de Ruyter, Tryssa E TE; Wilson, Machelle D MD; Pessah, Isaac N IN; Lein, Pamela J PJ

Publication Date: 2021

Variant appearance in text: RYR1: T4826I

PubMed Link: 34924936

Variant Present in the following documents:

• Main text
• fnins-15-766802.pdf

View BVdb publication page

---

The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls.

Current Research In Toxicology

Matelski, Lauren L; Keil Stietz, Kimberly P KP; Sethi, Sunjay S; Taylor, Sandra L SL; Van de Water, Judy J; Lein, Pamela J PJ

Publication Date: 2020-06-10

Variant appearance in text: RYR1: T4826I

PubMed Link: 34296199

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Fitness Costs of Chlorantraniliprole Resistance Related to the SeNPF Overexpression in the Spodoptera exigua (Lepidoptera: Noctuidae).

International Journal Of Molecular Sciences

Gong, Changwei C; Yao, Xinge X; Yang, Qunfang Q; Wang, Xuegui X; Zhang, Yuming Y; Wang, Yumeng Y; Shen, Litao L

Publication Date: 2021-05-10

Variant appearance in text: RYR1: T4826I

PubMed Link: 34068540

Variant Present in the following documents:

• ijms-22-05027.pdf

View BVdb publication page

---

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: rs121918595

PubMed Link: 34064668

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 33767344

Variant Present in the following documents:

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

View BVdb publication page

---

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: 14477C>T; rs121918595

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

---

Polychlorinated Biphenyls (PCBs): Risk Factors for Autism Spectrum Disorder?

Toxics

Panesar, Harmanpreet Kaur HK; Kennedy, Conner L CL; Keil Stietz, Kimberly P KP; Lein, Pamela J PJ

Publication Date: 2020-09-17

Variant appearance in text: RYR1: T4826I

PubMed Link: 32957475

Variant Present in the following documents:

• toxics-08-00070.pdf

View BVdb publication page

---

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: T4826I

PubMed Link: 32826313

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 32764093

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 32665491

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 32381029

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Evidence Implicating Non-Dioxin-Like Congeners as the Key Mediators of Polychlorinated Biphenyl (PCB) Developmental Neurotoxicity.

International Journal Of Molecular Sciences

Klocke, Carolyn C; Lein, Pamela J PJ

Publication Date: 2020-02-04

Variant appearance in text: RYR1: T4826I

PubMed Link: 32033061

Variant Present in the following documents:

• ijms-21-01013.pdf

View BVdb publication page

---

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: T4826I

PubMed Link: 31874912

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: RYR1: T4826I

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Developmental exposure to polychlorinated biphenyls (PCBs) in the maternal diet causes host-microbe defects in weanling offspring mice.

Environmental Pollution (Barking, Essex : 1987)

Rude, Kavi M KM; Pusceddu, Matteo M MM; Keogh, Ciara E CE; Sladek, Jessica A JA; Rabasa, Gonzalo G; Miller, Elaine N EN; Sethi, Sunjay S; Keil, Kimberly P KP; Pessah, Isaac N IN; Lein, Pamela J PJ; Gareau, Mélanie G MG

Publication Date: 2019-10

Variant appearance in text: RYR1: T4826I

PubMed Link: 31336350

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 31107960

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 30830166

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Thr4826Ile

PubMed Link: 30499100

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 30329129

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic mutations in Ca2+ signaling alter dendrite morphology and social approach in juvenile mice.

Genes, Brain, And Behavior

Keil, Kimberly P KP; Sethi, Sunjay S; Wilson, Machelle D MD; Silverman, Jill L JL; Pessah, Isaac N IN; Lein, Pamela J PJ

Publication Date: 2019-01

Variant appearance in text: MHS: T4826I

PubMed Link: 30311737

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 30236258

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 14477C>T; Thr4826Ile

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs121918595

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.

European Journal Of Translational Myology

Lavorato, Manuela M; Gupta, Pawan K PK; Hopkins, Philip M PM; Franzini-Armstrong, Clara C

Publication Date: 2016-09-15

Variant appearance in text: RYR1: T4826I

PubMed Link: 28078069

Variant Present in the following documents:

• Main text
• ejtm-2016-4-6105.pdf

View BVdb publication page

---

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: 14477C>T; rs121918595

PubMed Link: 26398623

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 26238698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: T4826I

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

View BVdb publication page

---

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: T4826I

PubMed Link: 24635445

Variant Present in the following documents:

• bj4600261.pdf

View BVdb publication page

---

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.

Thescientificworldjournal

Carsana, Antonella A

Publication Date: 2013

Variant appearance in text: RYR1: T4826I

PubMed Link: 23476141

Variant Present in the following documents:

• Main text
• TSWJ2013-531465.pdf

View BVdb publication page

---

Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.

The Journal Of Biological Chemistry

Barrientos, Genaro C GC; Feng, Wei W; Truong, Kim K; Matthaei, Klaus I KI; Yang, Tianzhong T; Allen, Paul D PD; Lopez, José R JR; Pessah, Isaac N IN

Publication Date: 2012-01-20

Variant appearance in text: RYR1: T4826I

PubMed Link: 22139840

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T4826I

PubMed Link: 22131268

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Malignant hyperthermia.

Orphanet Journal Of Rare Diseases

Rosenberg, Henry H; Davis, Mark M; James, Danielle D; Pollock, Neil N; Stowell, Kathryn K

Publication Date: 2007-04-24

Variant appearance in text: MHS: T4826I

PubMed Link: 17456235

Variant Present in the following documents:

• Main text
• 1750-1172-2-21.pdf

View BVdb publication page

---

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

Variant appearance in text: MHS: T4826I

PubMed Link: 15347586

Variant Present in the following documents:

• Main text

View BVdb publication page

---