| Name | RYR1 |
|---|---|
| Synonyms | CCO; MHS; MHS 1; MHS1; RYDR; RYR; RYR 1; RYR1… |
| Name | cresol |
|---|---|
| CAS | methylphenol |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 19191333 | Zullo A, Klingler W, De Sarno C, Ferrara M, Fortunato G, Perrotta G, Gravino E, Di Noto R, Lehmann-Horn F, Melzer W, Salvatore F, Carsana A: Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 Apr;30(4):E575-90. |
8(0,0,0,8) | Details |
| 19685112 | Migita T, Mukaida K, Hamada H, Yasuda T, Haraki T, Nishino I, Murakami N, Kawamoto M: Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47. J Anesth. 2009;23(3):341-6. Epub 2009 Aug 14. We therefore conducted a functional analysis of the mutation by altering homeostasis in human embryonic kidney (HEK) 293 cells transfected with the p.R2508C mutation in exon 47 of the ryanodine receptor 1 (RYR1). |
6(0,0,0,6) | Details |
| 11673462 | Girard T, Cavagna D, Padovan E, Spagnoli G, Urwyler A, Zorzato F, Treves S: B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem. 2001 Dec 21;276(51):48077-82. Epub 2001 Oct 22. The underlying feature of MH is a hypersensitivity of the release machinery of the sarcoplasmic reticulum, and in many cases this is a result of point mutations in the skeletal muscle ryanodine receptor release channel (RYR1). |
4(0,0,0,4) | Details |
| 9030597 | Richter M, Schleithoff L, Deufel T, Lehmann-Horn F, Herrmann-Frank A: Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Chem. 1997 Feb 21;272(8):5256-60. In about 50% of cases, malignant hyperthermia susceptibility is linked to the gene encoding the skeletal muscle ryanodine receptor/Ca2+ release channel (RYR1). |
4(0,0,0,4) | Details |
| 12411786 | Sei Y, Brandom BW, Bina S, Hosoi E, Gallagher KL, Wyre HW, Pudimat PA, Holman SJ, Venzon DJ, Daly JW, Muldoon S: Patients with malignant hyperthermia demonstrate an altered control mechanism in B lymphocytes. Anesthesiology. 2002 Nov;97(5):1052-8. Genetic studies have shown that mutations in the type 1 ryanodine receptor (RYR1) are associated with MH susceptibility. |
4(0,0,0,4) | Details |
| 10026226 | Sei Y, Gallagher KL, Basile AS: Skeletal muscle type ryanodine receptor is involved in signaling in human B lymphocytes. J Biol Chem. 1999 Feb 26;274(9):5995-6002. |
3(0,0,0,3) | Details |
| 11673493 | Hosoi E, Nishizaki C, Gallagher KL, Wyre HW, Matsuo Y, Sei Y: Expression of the ryanodine receptor isoforms in immune cells. J Immunol. 2001 Nov 1;167(9):4887-94. In PBMCs, type 1 RYR (RYR1) was expressed in CD19 (+) B lymphocytes, but less frequently in CD3 (+) T lymphocytes and in CD14 (+) monocytes. |
2(0,0,0,2) | Details |
| 15299003 | Ducreux S, Zorzato F, Muller C, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S: Effect of ryanodine receptor mutations on interleukin-6 release and intracellular homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. J Biol Chem. 2004 Oct 15;279(42):43838-46. Epub 2004 Aug 8. In this study we report for the first time the functional properties of human myotubes isolated from patients harboring the native RYR1 I4898T and R4893W mutations linked to central core disease. |
2(0,0,0,2) | Details |
| 12810058 | Wehner M, Rueffert H, Koenig F, Meinecke CD, Olthoff D: The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated release from sarcoplasmic reticulum by 4-chloro- in human myotubes. Cell Calcium. 2003 Aug;34(2):163-8. This disease is associated with malignant hyperthermia susceptibility and has been linked to the gene of skeletal muscle ryanodine receptor RYR1. |
3(0,0,0,3) | Details |
| 12220451 | Wehner M, Rueffert H, Koenig F, Neuhaus J, Olthoff D: Increased sensitivity to 4-chloro- and in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. Clin Genet. 2002 Aug;62(2):135-46. |
2(0,0,0,2) | Details |
| 16372898 | Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Muller CR, Treves S: Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochem J. 2006 Apr 15;395(2):259-66. In the present paper, we show, for the first time, data on the functional effect of two recently identified recessive ryanodine receptor 1 amino acid substitutions, P3527S and V4849I, as well as that of R999H, another substitution that was identified in two siblings that were affected by multi-minicore disease. |
1(0,0,0,1) | Details |
| 15281512 | Weigl LG, Ludwig-Papst C, Kress HG: 4-chloro- cannot detect malignant hyperthermia equivocal cells in an alternative minimally invasive diagnostic test of malignant hyperthermia susceptibility. Anesth Analg. 2004 Jul;99(1):103-7. Regions of the ryanodine receptor 1 harboring most of the described MH mutations were sequenced from MHS and MHEH cells. |
1(0,0,0,1) | Details |
| 11990295 | Treves S, Pouliquin R, Moccagatta L, Zorzato F: Functional properties of EGFP-tagged skeletal muscle calcium-release channel (ryanodine receptor) expressed in COS-7 cells: sensitivity to and 4-chloro- Cell Calcium. 2002 Jan;31(1):1-12. |
1(0,0,0,1) | Details |
| 14641996 | Wehner M, Rueffert H, Koenig F, Olthoff D: release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala. Genet Test. 2003 Fall;7(3):203-11. Numerous mutations associated with MH have been detected in the skeletal muscle type ryanodine receptor gene (RyR1), but so far facilitated release has only been demonstrated for a few of them. |
1(0,0,0,1) | Details |
| 18719443 | Kaufmann A, Kraft B, Michalek-Sauberer A, Weigl LG: Novel ryanodine receptor mutation that may cause malignant hyperthermia. . Anesthesiology. 2008 Sep;109(3):457-64. In the authors' ongoing evaluation of patients undergoing MH testing in Austria, they detected a family with a new variant of the ryanodine receptor 1. |
1(0,0,0,1) | Details |
| 12508299 | Skeie GO, Mygland A, Treves S, Gilhus NE, Aarli JA, Zorzato F: Ryanodine receptor antibodies in myasthenia gravis: epitope mapping and effect on release in vitro. Muscle Nerve. 2003 Jan;27(1):81-9. Patients with myasthenia gravis can have antibodies against skeletal muscle ryanodine receptor (Ry1), the sarcoplasmic reticulum calcium-release channel, which plays a crucial role in excitation-contraction coupling. |
1(0,0,0,1) | Details |