这篇综述是对致心律失常性右心室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)在病因学、临床表现和诊断的更新。ARVC是一种常染色体显性遗传疾病,其典型症状为心悸、心源性晕厥和室性心律失常所致的心脏骤停。诊断...这篇综述是对致心律失常性右心室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)在病因学、临床表现和诊断的更新。ARVC是一种常染色体显性遗传疾病,其典型症状为心悸、心源性晕厥和室性心律失常所致的心脏骤停。诊断的主要标准和次要标准基于2010年专家组修订的标准,从6个不同方面对检查结果进行评估。影像学在ARVC诊断中很重要,包括超声心动学和心脏MRI。心电图和信号平均心电图用来分析除极和复极的异常。室性心律失常被认为是诊断ARVC的一个主要标准。2010年专家组修订的标准(Task Force Criteria revised,TFC)也包括了ARVC家族史和相关突变的检查。展开更多
The Yes-associated protein(YAP)is a downstream effector of the Hippo pathway and acts as a key transcription co-factor to regulate cell migration,proliferation,and survival.The Hippo pathway is evolutionarily conserve...The Yes-associated protein(YAP)is a downstream effector of the Hippo pathway and acts as a key transcription co-factor to regulate cell migration,proliferation,and survival.The Hippo pathway is evolutionarily conserved and controls tissue growth and organ size.Dysregulation and heterogeneity of this pathway are found in cancers,including oral squamous cell carcinoma(OSCC),leading to overexpression of YAP and its regulated proliferation machinery.The activity of YAP is associated with its nuclear expression and is negatively regulated by the Hippo kinase-mediated phosphorylation resulting in an induction of its cytoplasmic translocation.This review focuses on the role of YAP in OSCC in the context of cancer metastatic potential and highlights the latestfindings about the heterogeneity of YAP expression and its nuclear transcription activity in oral cancer cell lines.The review also discusses the potential target of YAP in oral cancer therapy and the recentfinding of the unprecedented role of the desmosomal cadherin desmoglein-3(DSG3)in regulating Hippo-YAP signaling.展开更多
Sudden unexplained death(SUD)remains a puzzle in forensic medicine.Desmoglein‑2(DSG2)has been linked to arrhythmogenic right ventricular cardiomyopathy which may cause life‑threatening ventricular arrhythmias and sudd...Sudden unexplained death(SUD)remains a puzzle in forensic medicine.Desmoglein‑2(DSG2)has been linked to arrhythmogenic right ventricular cardiomyopathy which may cause life‑threatening ventricular arrhythmias and sudden death.Fatal arrhythmias resulting in sudden death also occur in the absence of morphologic cardiac abnormalities at autopsy.We hypothesized that DSG2 mutations may be responsible for certain Chinese SUD cases.We sequenced all 15 exons of DSG2 in DNA extracted from postmortem heart tissues of 25 Chinese patients dying from SUD.The primers were designed using the Primer Express 3.0 software.Direct sequencing for both sense and antisense strands was performed with a BigDye Terminator DNA sequencing kit on a 3130 Xl Genetic Analyzer.Mutation damage prediction was made using Mutation Taster,PolyPhen,and SIFT software.In 2 of 25 cases of Chinese SUD samples,two DSG2 heterozygous mutations(p.P927 L and p.T1070M)were identified,and one is probably damaging.We concluded that DSG2 mutations may be related to the occurrence of part of SUD cases in the Chinese Han population.展开更多
文摘这篇综述是对致心律失常性右心室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)在病因学、临床表现和诊断的更新。ARVC是一种常染色体显性遗传疾病,其典型症状为心悸、心源性晕厥和室性心律失常所致的心脏骤停。诊断的主要标准和次要标准基于2010年专家组修订的标准,从6个不同方面对检查结果进行评估。影像学在ARVC诊断中很重要,包括超声心动学和心脏MRI。心电图和信号平均心电图用来分析除极和复极的异常。室性心律失常被认为是诊断ARVC的一个主要标准。2010年专家组修订的标准(Task Force Criteria revised,TFC)也包括了ARVC家族史和相关突变的检查。
基金founded by Elfarouq Foundation(a small charity).
文摘The Yes-associated protein(YAP)is a downstream effector of the Hippo pathway and acts as a key transcription co-factor to regulate cell migration,proliferation,and survival.The Hippo pathway is evolutionarily conserved and controls tissue growth and organ size.Dysregulation and heterogeneity of this pathway are found in cancers,including oral squamous cell carcinoma(OSCC),leading to overexpression of YAP and its regulated proliferation machinery.The activity of YAP is associated with its nuclear expression and is negatively regulated by the Hippo kinase-mediated phosphorylation resulting in an induction of its cytoplasmic translocation.This review focuses on the role of YAP in OSCC in the context of cancer metastatic potential and highlights the latestfindings about the heterogeneity of YAP expression and its nuclear transcription activity in oral cancer cell lines.The review also discusses the potential target of YAP in oral cancer therapy and the recentfinding of the unprecedented role of the desmosomal cadherin desmoglein-3(DSG3)in regulating Hippo-YAP signaling.
基金This study was funded by the National Natural Science Foundation of China(NSFC fund:81501630)the Opening Project of Shanghai Key Laboratory of Crime Scene Evidence(No.2016XCWZK20)+1 种基金This study was funded by the National Natural Science Foundation of China(NSFC fund:81501630)the Opening Project of Shanghai Key Laboratory of Crime Scene Evidence(No.2016XCWZK20).
文摘Sudden unexplained death(SUD)remains a puzzle in forensic medicine.Desmoglein‑2(DSG2)has been linked to arrhythmogenic right ventricular cardiomyopathy which may cause life‑threatening ventricular arrhythmias and sudden death.Fatal arrhythmias resulting in sudden death also occur in the absence of morphologic cardiac abnormalities at autopsy.We hypothesized that DSG2 mutations may be responsible for certain Chinese SUD cases.We sequenced all 15 exons of DSG2 in DNA extracted from postmortem heart tissues of 25 Chinese patients dying from SUD.The primers were designed using the Primer Express 3.0 software.Direct sequencing for both sense and antisense strands was performed with a BigDye Terminator DNA sequencing kit on a 3130 Xl Genetic Analyzer.Mutation damage prediction was made using Mutation Taster,PolyPhen,and SIFT software.In 2 of 25 cases of Chinese SUD samples,two DSG2 heterozygous mutations(p.P927 L and p.T1070M)were identified,and one is probably damaging.We concluded that DSG2 mutations may be related to the occurrence of part of SUD cases in the Chinese Han population.
