PubMed (GeneRIF) for id: 6261

Year	Number of Results
2001	2
2002	5
2003	4
2004	9
2005	7
2006	8
2007	7
2008	19
2009	18
2010	13
2011	21
2012	17
2013	14
2014	14
2015	17
2016	13
2017	11
2018	14
2019	7
2020	10
2021	11
2022	15
2023	8
2024	4

1

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J. Jackson M, et al. Prenat Diagn. 2024 Apr;44(4):522-526. doi: 10.1002/pd.6553. Epub 2024 Mar 23. Prenat Diagn. 2024. PMID: 38520674

2

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, Treves S, Zorzato F. Benucci S, et al. J Gen Physiol. 2024 Apr 1;156(4):e202313486. doi: 10.1085/jgp.202313486. Epub 2024 Mar 4. J Gen Physiol. 2024. PMID: 38445312

3

Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.

Godbout K, Rousseau J, Tremblay JP. Godbout K, et al. Cells. 2023 Dec 22;13(1):31. doi: 10.3390/cells13010031. Cells. 2023. PMID: 38201236 Free PMC article.

4

Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.

Chirasani VR, Elferdink M, Kral M, Carter JS, Heitmann S, Meissner G, Yamaguchi N. Chirasani VR, et al. J Biol Chem. 2024 Feb;300(2):105606. doi: 10.1016/j.jbc.2023.105606. Epub 2023 Dec 28. J Biol Chem. 2024. PMID: 38159862 Free PMC article.

5

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.

Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T, Treves S, Zorzato F. Noda Y, et al. Neuromuscul Disord. 2023 Dec;33(12):951-963. doi: 10.1016/j.nmd.2023.10.019. Epub 2023 Nov 3. Neuromuscul Disord. 2023. PMID: 37996280 Free article.

6

Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.

Vidal J, Fernandez EA, Wohlwend M, Laurila PP, Lopez-Mejia A, Ochala J, Lobrinus AJ, Kayser B, Lopez-Mejia IC, Place N, Zanou N. Vidal J, et al. J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):2882-2897. doi: 10.1002/jcsm.13349. Epub 2023 Nov 15. J Cachexia Sarcopenia Muscle. 2023. PMID: 37964752 Free PMC article.

7

Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.

Yu KD, Betts MN, Urban GM, Schwartz MLB, Robinson TO, Moyer RJ, Taddonio SW, Vasudevan A, Johns A, Sturm AC, Kelly MA, Williams MS, Poler SM, Buchanan AH. Yu KD, et al. Anesthesiology. 2024 Jan 1;140(1):52-61. doi: 10.1097/ALN.0000000000004786. Anesthesiology. 2024. PMID: 37787745 Free article.

8

Pancreatitis in RYR1-related disorders.

Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H. Famili DT, et al. Neuromuscul Disord. 2023 Oct;33(10):769-775. doi: 10.1016/j.nmd.2023.09.003. Epub 2023 Sep 16. Neuromuscul Disord. 2023. PMID: 37783627 Free article.

9

ERO1α primes the ryanodine receptor to respond to arsenite with concentration dependent Ca²⁺ release sequentially triggering two different mechanisms of ROS formation.

Guidarelli A, Spina A, Buffi G, Blandino G, Fiorani M, Cantoni O. Guidarelli A, et al. Chem Biol Interact. 2023 Sep 25;383:110694. doi: 10.1016/j.cbi.2023.110694. Epub 2023 Sep 1. Chem Biol Interact. 2023. PMID: 37659621 Free article.

10

Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.

Sonne A, Antonovic AK, Melhedegaard E, Akter F, Andersen JL, Jungbluth H, Witting N, Vissing J, Zanoteli E, Fornili A, Ochala J. Sonne A, et al. Acta Physiol (Oxf). 2023 Oct;239(2):e14035. doi: 10.1111/apha.14035. Epub 2023 Aug 21. Acta Physiol (Oxf). 2023. PMID: 37602753 Free PMC article.

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