This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibi...
这个基因编码一种在骨骼肌中发现的ryanodine受体。编码蛋白在肌浆网中起钙释放通道的作用,同时也连接肌浆网和横小管该基因突变与恶性高热易感性、中枢性心脏病和伴外眼肌麻痹的小中枢性肌病有关。另外,还描述了编码不同亚型的剪接转录本。[由RefSeq提供,2008年7月] This gene encodes a ryanodine receptor found i...
基因简称(symbol) RYR1 [HGNC] [GeneCards] [NCBI] 基因种类(locus group) protein-coding gene 同源简称(alias symbol) RYR|PPP1R137 基因家族代码(gene_family_id) 287|694 [HGNC] [GenScript] omim代码 180901 entrez码 6261 [Vega] ensembl基因码 ENSG00000196218 [Ensembl] 基因家族(gene ...
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy[J]. Nat Genet, 1999,23(2):208-12. 返回引文位置Google Scholar 百度学术 万方数据 [8] Witherspoon JW , Meilleur KG . Review of RyR1 pathway and associated pathomechanisms[J]. Acta ...
Figure 1: High-resolution melting profile showing the resolved RYR1 genotypes.S MariniL VanzettiV BorelliEn.engormix.com
关键词 R YR 1 基因; 仔猪; 生长; 断奶应激 分类号 S82811 Effects of sow RYR1 gene on piglet early growth J iang Xunp ing 1 , Yang L iguo 1 , L iu Guiqiong 2 , Zhang M u 2 and D ing J iatong 2 ( 1 Co llege of A nimal Science and Techno logy, N anjing A gric U niv...
3 College of Life Science, Fudan University, Shanghai 200433, ChinaKEY WORDS congenital fiber type disproportion; congenital myopathy; ryanodine receptor 1; RYR1 geneABSTRACT Aim To investigate autosomal recessive inherited RYR1 myopathy by reporting a case with congenital fi ber type disproportion (CF...
A 14-year-old male pediatric patient was admitted to the hospital mainly because of neck and back deformity, with limited activity for 7 yr, dysphagia and short of breath for more than 10 months.He was diagnosed with cervical lordosis deformity, RyR1 gene-related myopathy, high possibility of...
With the era of next‐generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1 ‐related congenital myopathies such as central core disease, minicore myopathy with external ophthalm...
摘要 目的:探讨RYR1基因与胃癌发生发展的相关性以及RYR1促进胃癌恶性进展的作用机制。方法:分析TCGA数据库胃癌患者数据,并回顾性选取2010年12月至2012年12月就诊于天津医科大学肿瘤医院的81例胃癌患者的组织样本...展开更多 Objective:To investigate the correlation between RYR1 gene and the development of gastric ...