| The genomic and clinical landscape of fetal akinesia. | The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. | 02/6/2021 |
| RYR3 variants are associated with risk of and age of onset for hypertension, diabetes, and Alzheimer disease. | Polymorphisms Within RYR3 Gene Are Associated With Risk and Age at Onset of Hypertension, Diabetes, and Alzheimer's Disease.
Gong S, Su BB, Tovar H, Mao C, Gonzalez V, Liu Y, Lu Y, Wang KS, Xu C. | 01/4/2020 |
| The Ryr Ca2+ release channel is central to cytoplasmic Ca2+ signalling in skeletal muscle, the heart, and many other tissues, playing a vital role in muscular contraction. | Altered ryanodine receptor gene expression in Hirschsprung's disease.
O' Donnell AM, Nakamura H, Puri P. | 12/14/2019 |
| Mutations in RYR3 Gene is associated with Gender Dysphoria. | Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.
Yang F, Zhu XH, Zhang Q, Sun NX, Ji YX, Ma JZ, Xiao B, Ding HX, Sun SH, Li W., Free PMC Article | 04/20/2019 |
| a genome-wide linkage scan and regional association fine-mapping identified variants in the RYR3 gene as a quantitative trail locus for plasma adiponectin levels in Chinese population | Genome-wide linkage analysis and regional fine mapping identified variants in the RYR3 gene as a novel quantitative trait locus for circulating adiponectin in Chinese population.
Chang YC, Chiu YF, He CT, Sheu WH, Lin MW, Seto TB, Assimes T, Jou YS, Su L, Lee WJ, Lee PC, Tsai SH, Chuang LM., Free PMC Article | 02/25/2017 |
| Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR). | Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.
Santulli G, Marks AR. | 07/16/2016 |
| Data show that the common variant single-nucleotide polymorphism rs2229116 of the ryanodine receptor 3 gene (RYR3) was significantly associated with carotid intima-media thickness (cIMT). | Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individuals.
Zhi D, Shendre A, Scherzer R, Irvin MR, Perry RT, Levy S, Arnett DK, Grunfeld C, Shrestha S., Free PMC Article | 04/2/2016 |
| SNPs within the RYR3 region were associated with subclinical atherosclerosis among HIV-infected women. Allelic heterogeneity observed across the three races suggests that the contribution of the RYR3 gene to CCA cIMT is complex. | RYR3 gene variants in subclinical atherosclerosis among HIV-infected women in the Women's Interagency HIV Study (WIHS).
Shendre A, Irvin MR, Aouizerat BE, Wiener HW, Vazquez AI, Anastos K, Lazar J, Liu C, Karim R, Limdi NA, Cohen MH, Golub ET, Zhi D, Kaplan RC, Shrestha S., Free PMC Article | 12/20/2014 |
| rs877087 and rs2229116 of RYR3 gene are associated with atherosclerosis severity in Japanese. | Association of the RYR3 gene polymorphisms with atherosclerosis in elderly Japanese population.
Zhao C, Ikeda S, Arai T, Naka-Mieno M, Sato N, Muramatsu M, Sawabe M., Free PMC Article | 10/4/2014 |
| a genetic interaction between the RYR3 and CACNA1C genes explained variance in amyloid deposition above and beyond other major known risk factors for late-onset Alzheimer's disease | Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.
Koran ME, Hohman TJ, Thornton-Wells TA., Free PMC Article | 03/1/2014 |
| The findings reported here for the case-only analysis of the antihypertensive pharmacogenetic effect of RYR3 among 3058 CHD cases . | RYR3 gene polymorphisms and cardiovascular disease outcomes in the context of antihypertensive treatment.
Lynch AI, Irvin MR, Boerwinkle E, Davis BR, Vaughan LK, Ford CE, Aissani B, Eckfeldt JH, Arnett DK, Shrestha S., Free PMC Article | 02/22/2014 |
| the rectified RyR3 channel in open conformation may be regulated in situ by two cytosolic activating Ca(2+) sites | RyR3 in situ regulation by Ca(2+) and quercetin and the RyR3-mediated Ca(2+) release flux in intact Jurkat cells.
Baran I, Ganea C. | 01/25/2014 |
| The current study suggests that the functional variant (rs1044129) in the miR-367 binding site of RYR3 may be a potential marker for prognosis in patients following curative surgery for colorectal cancer | Functional polymorphism in the MicroRNA-367 binding site as a prognostic factor for colonic cancer.
Chae YS, Kim JG, Kang BW, Lee SJ, Lee YJ, Park JS, Choi GS, Lee WK, Jeon HS. | 04/13/2013 |
| RyR1, RyR2, and RyR3 transcripts were detected in human T cells, RyR1/2 transcript levels increased, whereas those of RyR3 decreased after T cell activation. | Bidirectional coupling between ryanodine receptors and Ca2+ release-activated Ca2+ (CRAC) channel machinery sustains store-operated Ca2+ entry in human T lymphocytes.
Thakur P, Dadsetan S, Fomina AF., Free PMC Article | 01/12/2013 |
| RYR3 gene polymorphisms are associated with common carotid intima-media thickness in HIV-infected white males. | Replication of RYR3 gene polymorphism association with cIMT among HIV-infected whites.
Shrestha S, Yan Q, Joseph G, Arnett DK, Martinson JJ, Kingsley LA., Free PMC Article | 12/22/2012 |
| Alterations in RyR3 expression at early disease stages may reflect the onset of pathologic mechanisms leading to later neurodegeneration. | Altered ryanodine receptor expression in mild cognitive impairment and Alzheimer's disease.
Bruno AM, Huang JY, Bennett DA, Marr RA, Hastings ML, Stutzmann GE., Free PMC Article | 11/24/2012 |
| The study provides biochemical evidence of the interaction between FKBP12 and RYR1, RYR3 and IP3R. | Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels.
Wen H, Kang S, Song Y, Song Y, Yang HJ, Kim MH, Park S. | 02/18/2012 |
| RyR expressed in epidermal keratinocytes is associated with both differentiation of keratinocytes and epidermal barrier homeostasis. | Ryanodine receptors are expressed in epidermal keratinocytes and associated with keratinocyte differentiation and epidermal permeability barrier homeostasis.
Denda S, Kumamoto J, Takei K, Tsutsumi M, Aoki H, Denda M. | 02/11/2012 |
| A putative binding site for microRNA-367 exists in the 3'UTR of RYR3, and a genetic variant, rs1044129 A-->G, is present in this binding region. | Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification.
Zhang L, Liu Y, Song F, Zheng H, Hu L, Lu H, Liu P, Hao X, Zhang W, Chen K., Free PMC Article | 11/26/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesHuman variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. A genome-wide association study of carotid atherosclerosis in HIV-infected men.
Shrestha S, Irvin MR, Taylor KD, Wiener HW, Pajewski NM, Haritunians T, Delaney JA, Schambelan M, Polak JF, Arnett DK, Chen YD, Grunfeld C. | 01/20/2010 |
| Upregulation of the expression of ryanodine receptor 3 is suggestive of an intracellular calcium leak. | Association between statin-associated myopathy and skeletal muscle damage.
Mohaupt MG, Karas RH, Babiychuk EB, Sanchez-Freire V, Monastyrskaya K, Iyer L, Hoppeler H, Breil F, Draeger A., Free PMC Article | 01/21/2010 |
| We genotyped 14 tag SNPs in 166 Japanese patients with autism and 375 controls. | No association between the ryanodine receptor 3 gene and autism in a Japanese population.
Tochigi M, Kato C, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T, Tochigi M, Kato C, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesL-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
Yokoyama K, Urashima M, Ohkido I, Kono T, Yoshida T, Muramatsu M, Niu T, Hosoya T. Microsatellite scan identifies new candidate genes for susceptibility to alcoholic chronic pancreatitis in Japanese patients.
Kitahara K, Kawa S, Katsuyama Y, Umemura T, Ozaki Y, Takayama M, Arakura N, Ota M. No association between the ryanodine receptor 3 gene and autism in a Japanese population.
Tochigi M, Kato C, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T, Tochigi M, Kato C, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T. | 07/13/2008 |
| essential in the sustained Ca(2+) response in T cells | Knock-down of the type 3 ryanodine receptor impairs sustained Ca2+ signaling via the T cell receptor/CD3 complex.
Schwarzmann N, Kunerth S, Weber K, Mayr GW, Guse AH. | 01/21/2010 |