Implications for lncRNAs in the central nervous system:Transcriptional dysregulation is a key contributor to the pathogenesis of a wide range of diseases and long non-coding RNAs(lncRNAs)are highly expressed in the ne...Implications for lncRNAs in the central nervous system:Transcriptional dysregulation is a key contributor to the pathogenesis of a wide range of diseases and long non-coding RNAs(lncRNAs)are highly expressed in the nervous system.Indeed,amongst the over 50,000 lncRNAs expressed in the human genome,more than 40%are specifically expressed in the brain where their roles in brain development,neuron functions,maintenance.展开更多
The adipose tissue is a crucial energy reservoir that can undergo significant changes during aging,impacting the pathogenesis of metabolic disorders,including obesity.1 Obesity affects individuals of all ages,with dif...The adipose tissue is a crucial energy reservoir that can undergo significant changes during aging,impacting the pathogenesis of metabolic disorders,including obesity.1 Obesity affects individuals of all ages,with different implications for each stage of life.It is thought to be a state of accelerated aging,prompting the introduction of the term"adipaging",for which obesity and aging share key biological hallmarks strictly related to a dysfunctional adipose tissue.展开更多
Chemotherapy is one of the major treatments of malignant carcinomas.However,its efficiency is affected by both intrinsic and acquired resistance to anticancer drugs.The cellular mechanisms of drug resistance include t...Chemotherapy is one of the major treatments of malignant carcinomas.However,its efficiency is affected by both intrinsic and acquired resistance to anticancer drugs.The cellular mechanisms of drug resistance include the overexpression of energy-dependent transporters that eject anticancer drugs from cells such as p-glycoprotein and multidrug resistance related protein(MRP),the mutation of drug targets,the activation of DNA repair pathways,the defects in cellular death pathways and so on.The genetic and epigenetic changes of these genes can lead to cancer drug resistance.Among these mechanisms,microRNAs(miRNAs)which are critical and essential for many important processes such as development,differentiation,and even carcinogenesis have been reported to regulate the chemosen-sitivity of tumor cells.In this paper we briefly review the relationship between miRNA and cancer drug resistance.展开更多
The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome.These variants include copy number variations(CNVs...The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome.These variants include copy number variations(CNVs),inversions,insertions,deletions and other complex rearrangements of DNA sequences.This paper briefly reviews the commonly used technologies to discover both genomic structural variants and their potential influences.Particularly,we highlight the array-based,PCR-based and sequencing-based assays,including array-based comparative genomic hybridization(aCGH),representational oligonucleotide microarray analysis(ROMA),multiplex amplifiable probe hybridization(MAPH),multiplex ligation-dependent probe amplification(MLPA),paired-end mapping(PEM),and next-generation DNA sequencing technologies.Furthermore,we discuss the limitations and challenges of current assays and give advices on how to make the database of genomic variations more reliable.展开更多
Aicardi-Goutieres syndrome(AGS)is a systemic inflammatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probably central to pathogenesis...Aicardi-Goutieres syndrome(AGS)is a systemic inflammatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probably central to pathogenesis.^(1) ADAR1,one of the genes mutated in AGS(AGS6),encodes for an enzyme that belongs to the ADAR family(ADAR1,ADAR2,and ADAR3)that catalyzes the conversion of adenosine to inosine within double-stranded RNAs(dsRNAs)(RNA editing A-to-1).展开更多
基金partially funded by Fondazione Regionale per la Ricerca Biomedica(TRANS-ALS2015-0023)Fondazione“Romeo and Enrica Invernizzi”(to SC and CC)。
文摘Implications for lncRNAs in the central nervous system:Transcriptional dysregulation is a key contributor to the pathogenesis of a wide range of diseases and long non-coding RNAs(lncRNAs)are highly expressed in the nervous system.Indeed,amongst the over 50,000 lncRNAs expressed in the human genome,more than 40%are specifically expressed in the brain where their roles in brain development,neuron functions,maintenance.
文摘The adipose tissue is a crucial energy reservoir that can undergo significant changes during aging,impacting the pathogenesis of metabolic disorders,including obesity.1 Obesity affects individuals of all ages,with different implications for each stage of life.It is thought to be a state of accelerated aging,prompting the introduction of the term"adipaging",for which obesity and aging share key biological hallmarks strictly related to a dysfunctional adipose tissue.
基金Supperted by the National High Technology Research and Development Program of China(Grant No.2006AA020704)
文摘Chemotherapy is one of the major treatments of malignant carcinomas.However,its efficiency is affected by both intrinsic and acquired resistance to anticancer drugs.The cellular mechanisms of drug resistance include the overexpression of energy-dependent transporters that eject anticancer drugs from cells such as p-glycoprotein and multidrug resistance related protein(MRP),the mutation of drug targets,the activation of DNA repair pathways,the defects in cellular death pathways and so on.The genetic and epigenetic changes of these genes can lead to cancer drug resistance.Among these mechanisms,microRNAs(miRNAs)which are critical and essential for many important processes such as development,differentiation,and even carcinogenesis have been reported to regulate the chemosen-sitivity of tumor cells.In this paper we briefly review the relationship between miRNA and cancer drug resistance.
基金Supported by the National High Technology Research and Development Program of China(Grant No.2006AA020704)
文摘The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome.These variants include copy number variations(CNVs),inversions,insertions,deletions and other complex rearrangements of DNA sequences.This paper briefly reviews the commonly used technologies to discover both genomic structural variants and their potential influences.Particularly,we highlight the array-based,PCR-based and sequencing-based assays,including array-based comparative genomic hybridization(aCGH),representational oligonucleotide microarray analysis(ROMA),multiplex amplifiable probe hybridization(MAPH),multiplex ligation-dependent probe amplification(MLPA),paired-end mapping(PEM),and next-generation DNA sequencing technologies.Furthermore,we discuss the limitations and challenges of current assays and give advices on how to make the database of genomic variations more reliable.
基金supported by the grants from United Leukodystrophy Foundation(to Alessandro Michienzi)partially supported by the Italian Ministry of Health(No.GR-2019-12368701 to Davide Tonduti and Cristina Cereda).
文摘Aicardi-Goutieres syndrome(AGS)is a systemic inflammatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probably central to pathogenesis.^(1) ADAR1,one of the genes mutated in AGS(AGS6),encodes for an enzyme that belongs to the ADAR family(ADAR1,ADAR2,and ADAR3)that catalyzes the conversion of adenosine to inosine within double-stranded RNAs(dsRNAs)(RNA editing A-to-1).
