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Implications of Transient Receptor Potential Cation Channels in Migraine Pathophysiology 被引量:7
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作者 Mamoru Shibata Chunhua Tang 《Neuroscience Bulletin》 SCIE CAS CSCD 2021年第1期103-116,共14页
Migraine is a common and debilitating headache disorder. Although its pathogenesis remains elusive,abnormal trigeminal and central nervous system activity is likely to play an important role. Transient receptor potent... Migraine is a common and debilitating headache disorder. Although its pathogenesis remains elusive,abnormal trigeminal and central nervous system activity is likely to play an important role. Transient receptor potential(TRP) channels, which transduce noxious stimuli into pain signals, are expressed in trigeminal ganglion neurons and brain regions closely associated with the pathophysiology of migraine. In the trigeminal ganglion,TRP channels co-localize with calcitonin gene-related peptide, a neuropeptide crucially implicated in migraine pathophysiology. Many preclinical and clinical data support the roles of TRP channels in migraine. In particular,activation of TRP cation channel V1 has been shown to regulate calcitonin gene-related peptide release from trigeminal nerves. Intriguingly, several effective antimigraine therapies, including botulinum neurotoxin type A, affect the functions of TRP cation channels. Here, we discuss currently available data regarding the roles of major TRP cation channels in the pathophysiology of migraine and the therapeutic applicability thereof. 展开更多
关键词 MIGRAINE trpv1 TRPM8 TRPA1 trpv4 Calcitonin gene-related peptide Trigeminal ganglion Neurogenic inflammation
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TRPV4基因变异引起先天性骨病遗传学分析
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作者 张文妍 姚子明 +4 位作者 张学军 张耀东 王凌飞 胡旭昀 郝婵娟 《临床儿科杂志》 CAS CSCD 北大核心 2023年第7期530-536,共7页
目的对4例不同严重程度的先天性骨病患儿进行基因诊断以明确其遗传学病因。总结临床特点并进行基因型-表型分析。方法收集4例患儿的临床资料,采集患儿及父母外周血并提取DNA,患儿行全外显子组测序,根据ACMG遗传变异分类标准与指南判断... 目的对4例不同严重程度的先天性骨病患儿进行基因诊断以明确其遗传学病因。总结临床特点并进行基因型-表型分析。方法收集4例患儿的临床资料,采集患儿及父母外周血并提取DNA,患儿行全外显子组测序,根据ACMG遗传变异分类标准与指南判断变异位点致病性,对患儿及父母进行Sanger测序验证。结果4例患儿均携带TRPV4基因杂合变异,其中2个错义变异遗传自患病父母,1个缺失插入变异和1个错义变异为新生变异,分别为c.2077 G>A(p.Val 693 Met),c.1199 G>A(p.Arg 400 Gln),c.1657 delinsACTA(p.Tyr 553 delinsThrAsn),和c.259 G>A(p.Glu 87 Lys),以上位点国内外未见报道。1-3号患儿有不同程度的身材矮小,4例患儿均有先天性脊柱侧弯及其他骨骼系统异常。分别诊断为轻型变形性骨发育不良、3型常染色体显性短躯干、变形性骨发育不良合并类扭伤型侏儒及经典型变形性骨发育不良。携带相同变异的患儿父亲/母亲有轻度的骨骼畸形。结论TRPV4基因不同位点变异引起的先天性骨病表型互有重叠但严重程度差异较大,可根据分子诊断结果进行鉴别诊断及临床干预。 展开更多
关键词 trpv4基因 先天性骨病 基因型-表型 分子诊断
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TRPV4基因突变导致Kozlowski型脊柱干骺端发育不良病一例家系研究 被引量:4
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作者 程健豪 傅文贞 +2 位作者 何进卫 汪纯 章振林 《中华骨质疏松和骨矿盐疾病杂志》 CSCD 北大核心 2018年第2期160-165,共6页
目的 Kozlowski型脊柱干骺端发育不良(Kozlowski type spondylometaphyseal dysplasia,SMDK)是一种罕见的常染色显性遗传病。本文报道了1例SMDK患者家系的临床特征,并进行致病基因突变检测,同时复习相关文献。方法 1例SMDK先证者及其患... 目的 Kozlowski型脊柱干骺端发育不良(Kozlowski type spondylometaphyseal dysplasia,SMDK)是一种罕见的常染色显性遗传病。本文报道了1例SMDK患者家系的临床特征,并进行致病基因突变检测,同时复习相关文献。方法 1例SMDK先证者及其患病母亲及5例健康家庭成员,外周血抽提基因组DNA进行瞬时感受器电位离子通道亚家族蛋白4编码基因(transient receptor potentialcation channel subfamily V member4,TRPV4)16个外显子Sanger测序,并以100名健康志愿者作为基因突变分析的对照。同时对先证者和其母亲进行体格,生化及放射学检查。结果先证者及其母亲临床表现为髋内翻畸形,膝外翻畸形,脊柱侧弯且伴有干骺端的改变。Sanger测序显示TRPV4基因(c.1781G>A)杂合突变,其他家族成员及健康对照者均未发现相同突变。结论本研究发现的TRPV4基因11号外显子错义突变(c.1781G>A)为该家系致病突变。 展开更多
关键词 Kozlowski型脊柱干骺端发育不良 trpv4基因 突变
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变形性发育不良患者TRPV4基因突变一例报告
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作者 罗小庆 杨鹏 +6 位作者 李灿 谢杨丽 杨京 旷梁 陈波 陈林 苏楠 《中华骨质疏松和骨矿盐疾病杂志》 CSCD 北大核心 2022年第6期676-682,共7页
报告1例变形性发育不良(metatropic dysplasia,MD)患者的临床表型和基因突变。先证者为6岁男童,采用查体、X线成像等对其临床表型进行分析;通过Sanger测序,分析患者瞬时感受电位香草酸家族4(transient receptor potential vanilloid 4,T... 报告1例变形性发育不良(metatropic dysplasia,MD)患者的临床表型和基因突变。先证者为6岁男童,采用查体、X线成像等对其临床表型进行分析;通过Sanger测序,分析患者瞬时感受电位香草酸家族4(transient receptor potential vanilloid 4,TRPV4)基因的突变情况。患者身材矮小、头部增大、前额突出、鼻梁低平、方形下巴、脊柱侧弯和后凸、胸骨前突、关节畸形、膝外翻、鸭步步态、骶尾部骨性突起。影像学异常包括椎体扁平、椎间隙增宽,腕骨骨化延迟,骨龄明显落后于正常儿童,跟骨和距骨不规则,四肢长骨干骺端膨大、呈哑铃型,髂骨短、宽且周边不规整、髋臼上切迹、耻骨联合增宽、尾骨延长并向左侧弯。TRPV4基因测序结果显示第14号外显子存在1个c.2318A>C杂合错义突变,导致第773位天冬氨酸突变为丙氨酸(p.D773A)。该突变为新突变,正常人基因中无此突变。 展开更多
关键词 变形性发育不良 trpv4基因 突变
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Isolation, characterization and expression analysis of TRPV4 in half-smooth tongue sole Cynoglossus semilaevis
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作者 SHANG Xiaomei MA Aijun +2 位作者 WANG Xin’an XIA Dandan ZHUANG Jiao 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2020年第1期294-305,共12页
The transient receptor potential vanilloid 4(TRPV4),another Ca^2+entry channel,belongs to the vanilloid subfamily and responds to a number of different physical and chemical stimuli and exists widely in mammals.Howeve... The transient receptor potential vanilloid 4(TRPV4),another Ca^2+entry channel,belongs to the vanilloid subfamily and responds to a number of different physical and chemical stimuli and exists widely in mammals.However,our understanding of the TRPV4 in fish remains poor.Therefore,we studied the TRPV4 gene from Cynoglossus semilaevis,named CsTRPV4 that encodes a putative protein of 870 amino acids common in structure and characteristic of mammalian TRPV4,including the domains of ANK repeats,six TM,TRP domain,and CaMBD.The CsTRPV4 was expressed ubiquitously in examined tissues:higher expression in the heart,spleen,testis,and eye,but lower expression in kidney and liver.Surprisingly,the expression of CsTRPV4 in lateral line was significantly higher than in many other tissues as the CsTRPV4 was expressed significantly in the free neuromasts.In addition,CsTRPV4 in the free neuromast from the larval fish was significantly expressed in the hair cells of the free neuromasts.Therefore,the free neuromasts can act as a mechano-sensor to the mechanical stimulation in molecular level in C.semilaevis,which lays a foundation for further study of the functions of the free neuromasts. 展开更多
关键词 transient receptor potential VANILLOID 4 (trpv4) Cynoglossus SEMILAEVIS gene expression free NEUROMASTS in SITU hybridization
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