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基因与疾病（英文）
基因与疾病（英文）
基因与疾病（英文）/Journal Genes & DiseasesCSCD
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    Incidental and secondary findings in trio exome sequencing

    Camille CohenEmeline BellangerJeremie MortreuxLaure Raymond...
    152-154页
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    The role of proteasomes in tumorigenesis

    Xiangyi ZhouRuqing XuYue WuLi Zhou...
    155-169页
    查看更多>>摘要：Protein homeostasis is the basis of normal life activities,and the proteasome family plays an extremely important function in this process.The proteasome 20S is a concentric cir-cle structure with two a rings and two β rings overlapped.The proteasome 20S can perform both ATP-dependent and non-ATP-dependent ubiquitination proteasome degradation by bind-ing to various subunits(such as 19S,11S,and 200 PA),which is performed by its active subunitβ1,β2,and β5.The proteasome can degrade misfolded,excess proteins to maintain homeosta-sis.At the same time,it can be utilized by tumors to degrade over-proliferate and unwanted proteins to support their growth.Proteasomes can affect the development of tumors from several aspects including tumor signaling pathways such as NF-κB and p53,cell cycle,immune regulation,and drug resistance.Proteasome-encoding genes have been found to be overex-pressed in a variety of tumors,providing a potential novel target for cancer therapy.In addi-tion,proteasome inhibitors such as bortezomib,carfilzomib,and ixazomib have been put into clinical application as the first-line treatment of multiple myeloma.More and more studies have shown that it also has different therapeutic effects in other tumors such as hepatocellular carcinoma,non-small cell lung cancer,glioblastoma,and neuroblastoma.However,protea-some inhibitors are not much effective due to their tolerance and singleness in other tumors.Therefore,further studies on their mechanisms of action and drug interactions are needed to investigate their therapeutic potential.
      原文链接:
    • NETL
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    • 万方数据

    Diverse functions of SOX9 in liver development and homeostasis and hepatobiliary diseases

    Taiyu ShangTianyi JiangXiaowen CuiYufei Pan...
    170-187页
    查看更多>>摘要：The liver is the central organ for digestion and detoxification and has unique meta-bolic and regenerative capacities.The hepatobiliary system originates from the foregut endo-derm,in which cells undergo multiple events of cell proliferation,migration,and differentiation to form the liver parenchyma and ductal system under the hierarchical regula-tion of transcription factors.Studies on liver development and diseases have revealed that SRY-related high-mobility group box 9(SOX9)plays an important role in liver embryogenesis and the progression of hepatobiliary diseases.SOX9 is not only a master regulator of cell fate determination and tissue morphogenesis,but also regulates various biological features of can-cer,including cancer stemness,invasion,and drug resistance,making SOX9 a potential biomarker for tumor prognosis and progression.This review systematically summarizes the lat-est findings of SOX9 in hepatobiliary development,homeostasis,and disease.We also highlight the value of SOX9 as a novel biomarker and potential target for the clinical treatment of major liver diseases.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    The key mediator of diabetic kidney disease:Potassium channel dysfunction

    Jia GuoChaojie ZhangHui ZhaoYufan Yan...
    188-200页
    查看更多>>摘要：Diabetic kidney disease is a leading cause of end-stage renal disease,making it a global public health concern.The molecular mechanisms underlying diabetic kidney disease have not been elucidated due to its complex pathogenesis.Thus,exploring these mechanisms from new perspectives is the current focus of research concerning diabetic kidney disease.Ion channels are important proteins that maintain the physiological functions of cells and organs.Among ion channels,potassium channels stand out,because they are the most common and important channels on eukaryotic cell surfaces and function as the basis for cell excitability.Certain potassium channel abnormalities have been found to be closely related to diabetic kid-ney disease progression and genetic susceptibility,such as KATP,Kca,Kir,and Kv.In this review,we summarized the roles of different types of potassium channels in the occurrence and devel-opment of diabetic kidney disease to discuss whether the development of DKD is due to potas-sium channel dysfunction and present new ideas for the treatment of DKD.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    Advances in single-cell sequencing technology in microbiome research

    Yinhang WuJing ZhuangYifei SongXinyi Gao...
    201-219页
    查看更多>>摘要：With the rapid development of histological techniques and the widespread applica-tion of single-cell sequencing in eukaryotes,researchers desire to explore individual microbial genotypes and functional expression,which deepens our understanding of microorganisms.In this review,the history of the development of microbial detection technologies was revealed and the difficulties in the application of single-cell sequencing in microorganisms were dissected as well.Moreover,the characteristics of the currently emerging microbial single-cell sequencing(Microbe-seq)technology were summarized,and the prospects of the application of Microbe-seq in microorganisms were distilled based on the current development status.Despite its mature development,the Microbe-seq technology was still in the optimization stage.A retrospective study was conducted,aiming to promote the widespread application of single-cell sequencing in microorganisms and facilitate further improvement in the techno卜ogy.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    The role of lipid metabolism in osteoporosis:Clinical implication and cellular mechanism

    Jing ZhangWenhui HuZhi ZouYuheng Li...
    220-233页
    查看更多>>摘要：In recent years,researchers have become focused on the relationship between lipids and bone metabolism balance.Moreover,many diseases related to lipid metabolism dis-orders,such as nonalcoholic fatty liver disease,atherosclerosis,obesity,and menopause,are associated with osteoporotic phenotypes.It has been clinically observed in humans that these lipid metabolism disorders promote changes in osteoporosis-related indicators bone mineral density and bone mass.Furthermore,similar osteoporotic phenotype changes were observed in high-fat and high-cholesterol-induced animal models.Abnormal lipid metabolism(such as increased oxidized lipids and elevated plasma cholesterol)affects bone microenvironment ho-meostasis via cross-organ communication,promoting differentiation of mesenchymal stem cells to adipocytes,and inhibiting commitment towards osteoblasts.Moreover,disturbances in lipid metabolism affect the bone metabolism balance by promoting the secretion of cyto-kines such as receptor activator of nuclear factor-kappa B ligand by osteoblasts and stimulating the differentiation of osteoclasts.Conclusively,this review addresses the possible link be-tween lipid metabolism disorders and osteoporosis and elucidates the potential modulatory mechanisms and signaling pathways by which lipid metabolism affects bone metabolism bal-ance.We also summarize the possible approaches and prospects of intervening lipid meta-bolism for osteoporosis treatment.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    Twenty years of Gendicine? rAd-p53 cancer gene therapy:The first-in-class human cancer gene therapy in the era of personalized oncology

    Li QiGuiqing LiPeipei LiHongwei Wang...
    234-245页
    查看更多>>摘要：Genetic mutations in TP53 contribute to human malignancies through various means.To date,there have been a variety of therapeutic strategies targeting p53,including gene therapy to restore normal p53 function,mutant p53 rescue,inhibiting the MDM2-p53 interaction,p53-based vaccines,and a number of other approaches.This review focuses on the functions of TP53 and discusses the aberrant roles of mutant p53 in various types of cancer.Recombinant human p53 adenovirus,trademarked as Gendicine,which is the first anti-tumor gene therapy drug,has made tremendous progress in cancer gene therapy.We herein discuss the biological mechanisms by which Gendicine exerts its effects and describe the clinical re-sponses reported in clinical trials.Notably,the clinical studies suggest that the combination of Gendicine with chemotherapy and/or radiotherapy may produce more pronounced efficacy in slowing tumor growth and progression than gene therapy/chemotherapy alone.Finally,we summarize the methods of administration of recombinant human p53 adenovirus for different cancer types to provide a reference for future clinical trials.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    CRISPR,CAR-T,and NK:Current applications and future perspectives

    Mohadeseh KhoshandamHossein SoltaninejadAmir Ali HamidiehSaman Hosseinkhani...
    246-257页
    查看更多>>摘要：Chimeric antigen receptor T(CAR-T)cell therapy represents a breakthrough in personalized cancer treatments.In this regard,synthetic receptors comprised of antigen recognition domains,signaling,and stimulatory domains are used to reprogram T-cells to target tum or cells and destroy them.Despite the success of this approach in refractory B-cell malignancies,the optimal potency of CAR T-cell therapy for many other cancers,particularly solid tumors,has not been validated.Natural killer cells are powerful cytotoxic lymphocytes specialized in recognizing and dispensing the tumor cells in coordination with other anti-tumor immunity cells.Based on these studies,many investigations are focused on the accurate designing of CAR T-cells with clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated protein 9(Cas9)system or other novel gene editing tools that can induce hereditary changes with or without the presence of a double-stranded break into the genome.These methodologies can be specifically focused on negative controllers of T-cells,induce modifications to a particular gene,and produce reproducible,safe,and powerful allogeneic CAR T-cells for on-demand cancer immunotherapy.The improvement of the CRISPR/Cas9 innovation offers an adaptable and proficient gene-editing capability in activating different pathways to help natural killer cells interact with novel CARs to particularly target tumor cells.Novel achievements and future challenges of combining next-generation CRISPR-Cas9 gene editing tools to optimize CAR T-cell and natural killer cell treatment for future clinical trials toward the foundation of modern cancer treatments have been assessed in this review.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    The roles and mechanisms of SREBP1 in cancer development and drug response

    Ying HeShasha QiLu ChenJinyu Zhu...
    258-269页
    查看更多>>摘要：Cancer occurrence and development are closely related to increased lipid produc-tion and glucose consumption.Lipids are the basic component of the cell membrane and play a significant role in cancer cell processes such as cell-to-cell recognition,signal transduction,and energy supply,which are vital for cancer cell rapid proliferation,invasion,and metastasis.Sterol regulatory element-binding transcription factor 1(SREBP1)is a key transcription factor regulating the expression of genes related to cholesterol biosynthesis,lipid homeostasis,and fatty acid synthesis.In addition,SREBP1 and its upstream or downstream target genes are implicated in various metabolic diseases,particularly cancer.However,no review of SREBP1 in cancer biology has yet been published.Herein,we summarized the roles and mechanisms of SREBP1 biological processes in cancer cells,including SREBP1 modification,lipid metabolism and reprogramming,glucose and mitochondrial metabolism,immunity,and tumor microenvi-ronment,epithelial-mesenchymal transition,cell cycle,apoptosis,and ferroptosis.Addition-ally,we discussed the potential role of SREBP1 in cancer prognosis,drug response such as drug sensitivity to chemotherapy and radiotherapy,and the potential drugs targeting SREBP1 and its corresponding pathway,elucidating the potential clinical application based on SREBP1 and its corresponding signal pathway.
      原文链接:
    • NETL
    • NSTL
    • 万方数据

    Insights into the role of RNA m6A modification in the metabolic process and related diseases

    Haiming HuZhibin LiXia XieQiushi Liao...
    270-295页
    查看更多>>摘要：According to the latest consensus,many traditional diseases are considered meta-bolic diseases,such as cancer,type 2 diabetes,obesity,and cardiovascular disease.Currently,metabolic diseases are increasingly prevalent because of the ever-improving living standards and have become the leading threat to human health.Multiple therapy methods have been applied to treat these diseases,which improves the quality of life of many patients,but the overall effect is still unsatisfactory.Therefore,intensive research on the metabolic process and the pathogenesis of metabolic diseases is imperative.N6-methyladenosine(m6A)is an important modification of eukaryotic RNAs.It is a critical regulator of gene expression that is involved in different cellular functions and physiological processes.Many studies have indi-cated that m6A modification regulates the development of many metabolic processes and metabolic diseases.In this review,we summarized recent studies on the role of m6A modifica-tion in different metabolic processes and metabolic diseases.Additionally,we highlighted the potential m6A-targeted therapy for metabolic diseases,expecting to facilitate m6A-targeted strategies in the treatment of metabolic diseases.
      原文链接:
    • NETL
    • NSTL
    • 万方数据