Annual Review of Pathology-Mechanisms of Disease最新文献_第9页

The Membrane Interactions of Synuclein: Physiology and Pathology. 突触核蛋白的膜相互作用:生理和病理。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2021-01-24 DOI: 10.1146/annurev-pathol-031920-092547

Gautam Runwal, Robert H Edwards

引用次数: 25

Molecular Pathogenesis of Merkel Cell Carcinoma. 默克尔细胞癌的分子发病机制。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2021-01-24 Epub Date: 2020-11-23 DOI: 10.1146/annurev-pathmechdis-012419-032817

James A DeCaprio

引用次数: 42

SWI/SNF Complex Mutations in Gynecologic Cancers: Molecular Mechanisms and Models. 妇科癌症中的SWI/SNF复合突变:分子机制和模型。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012418-012917

Yemin Wang, Lien Hoang, Jennifer X Ji, David G Huntsman

{"title":"SWI/SNF Complex Mutations in Gynecologic Cancers: Molecular Mechanisms and Models.","authors":"Yemin Wang, Lien Hoang, Jennifer X Ji, David G Huntsman","doi":"10.1146/annurev-pathmechdis-012418-012917","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012418-012917","url":null,"abstract":"The SWI/SNF (mating type SWItch/Sucrose NonFermentable) chromatin remodeling complexes interact with histones and transcription factors to modulate chromatin structure and control gene expression. These evolutionarily conserved multisubunit protein complexes are involved in regulating many biological functions, such as differentiation and cell proliferation. Genomic studies have revealed frequent mutations of genes encoding multiple subunits of the SWI/SNF complexes in a wide spectrum of cancer types, including gynecologic cancers. These SWI/SNF mutations occur at different stages of tumor development and are restricted to unique histologic types of gynecologic cancers. Thus, SWI/SNF mutations have to function in the appropriate tissue and cell context to promote gynecologic cancer initiation and progression. In this review, we summarize the current knowledge of SWI/SNF mutations in the development of gynecologic cancers to provide insights into both molecular pathogenesis and possible treatment implications for these diseases.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"15 ","pages":"467-492"},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathmechdis-012418-012917","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37576373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 38

Enabling Precision Oncology Through Precision Diagnostics. 通过精确诊断实现精确肿瘤学。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012418-012735

Noah A Brown, Kojo S J Elenitoba-Johnson

引用次数: 38

Cardiovascular Disease, Aging, and Clonal Hematopoiesis. 心血管疾病、衰老和克隆造血。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032544

M. A. Evans, S. Sano, K. Walsh

{"title":"Cardiovascular Disease, Aging, and Clonal Hematopoiesis.","authors":"M. A. Evans, S. Sano, K. Walsh","doi":"10.1146/annurev-pathmechdis-012419-032544","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032544","url":null,"abstract":"Traditional risk factors are incompletely predictive of cardiovascular disease development, a leading cause of death in the elderly. Recent epidemiological studies have shown that human aging is associated with an increased frequency of somatic mutations in the hematopoietic system, which provide a competitive advantage to a mutant cell, thus allowing for its clonal expansion, a phenomenon known as clonal hematopoiesis. Unexpectedly, these mutations have been associated with a higher incidence of cardiovascular disease, suggesting a previously unrecognized connection between somatic mutations in hematopoietic cells and cardiovascular disease. Here, we provide an up-to-date review of clonal hematopoiesis and its association with aging and cardiovascular disease. We also give a detailed report of the experimental studies that have been instrumental in understanding the relationship between clonal hematopoiesis and cardiovascular disease and have shed light on the mechanisms by which hematopoietic somatic mutations contribute to disease pathology. Expected final online publication date for the Annual Review of Pathology: Mechanisms of Disease, Volume 15 is January 24, 2020. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":""},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathmechdis-012419-032544","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48593781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 83

Microbial Contribution to the Human Metabolome: Implications for Health and Disease. 微生物对人类代谢组的贡献：对健康和疾病的影响。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathol-020117-043559

William W. Van Treuren, Dylan Dodd

{"title":"Microbial Contribution to the Human Metabolome: Implications for Health and Disease.","authors":"William W. Van Treuren, Dylan Dodd","doi":"10.1146/annurev-pathol-020117-043559","DOIUrl":"https://doi.org/10.1146/annurev-pathol-020117-043559","url":null,"abstract":"The human gastrointestinal tract is home to an incredibly dense population of microbes. These microbes employ unique strategies to capture energy in this largely anaerobic environment. In the process of breaking down dietary- and host-derived substrates, the gut microbiota produce a broad range of metabolic products that accumulate to high levels in the gut. Increasingly, studies are revealing that these chemicals impact host biology, either by acting on cells within the gastrointestinal tract or entering circulation and exerting their effects at distal sites within the body. Given the high level of functional diversity in the gut microbiome and the varied diets that we consume, the repertoire of microbiota-derived molecules within our bodies varies dramatically across individuals. Thus, the microbes in our gut and the metabolic end products they produce represent a phenotypic lever that we can potentially control to develop new therapeutics for personalized medicine. Here, we review current understanding of how microbes in the gastrointestinal tract contribute to the molecules within our gut and those that circulate within our bodies. We also highlight examples of how these molecules affect host physiology and discuss potential strategies for controlling their production to promote human health and to treat disease. Expected final online publication date for the Annual Review of Pathology: Mechanisms of Disease, Volume 15 is January 24, 2020. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":""},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathol-020117-043559","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48835256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 105

Development of the Intrahepatic and Extrahepatic Biliary Tract: A Framework for Understanding Congenital Diseases. 肝内和肝外胆道的发展:了解先天性疾病的框架。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 Epub Date: 2019-07-12 DOI: 10.1146/annurev-pathmechdis-012418-013013

Frédéric P Lemaigre

引用次数: 42

Molecular Pathogenesis of Membranous Nephropathy. 膜性肾病的分子发病机制。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathol-020117-043811

P. Ronco, H. Debiec

{"title":"Molecular Pathogenesis of Membranous Nephropathy.","authors":"P. Ronco, H. Debiec","doi":"10.1146/annurev-pathol-020117-043811","DOIUrl":"https://doi.org/10.1146/annurev-pathol-020117-043811","url":null,"abstract":"Membranous nephropathy is a noninflammatory autoimmune disease of the kidney glomerulus, characterized by the formation of immune deposits, complement-mediated proteinuria, and risk of renal failure. Considerable advances in understanding the molecular pathogenesis have occurred with the identification of several antigens [neutral endopeptidase, phospholipase A2 receptor (PLA2R), thrombospondin domain-containing 7A (THSD7A)] in cases arising from the neonatal period to adulthood and the characterization of antibody-binding domains (that is, epitopes). Immunization against PLA2R occurs in 70% to 80% of adult cases. The development of highly specific and sensitive assays of circulating antibodies has induced a paradigm shift in diagnosis and treatment monitoring. In addition, several interacting loci in HLA-DQ, HLA-DR, and PLA2R1, as well as classical human leukocyte antigen (HLA)D alleles have been identified as being risk factors, depending on a patient's ethnicity. Additionally, mechanisms of antibody pathogenicity and pathways of complement activation are now better understood. Further research is mandatory for designing new therapeutic strategies, including the identifying triggering events, the molecular bases of remission and progression, and the Tcell epitopes involved. Expected final online publication date for the Annual Review of Pathology: Mechanisms of Disease, Volume 15 is January 24, 2020. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":""},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathol-020117-043811","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44153471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 56

Mitochondrial Dynamics and Its Involvement in Disease. 线粒体动力学及其在疾病中的作用。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032711

D. Chan

{"title":"Mitochondrial Dynamics and Its Involvement in Disease.","authors":"D. Chan","doi":"10.1146/annurev-pathmechdis-012419-032711","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032711","url":null,"abstract":"The dynamic properties of mitochondria-including their fusion, fission, and degradation-are critical for their optimal function in energy generation. The interplay of fusion and fission confers widespread benefits on mitochondria, including efficient transport, increased homogenization of the mitochondrial population, and efficient oxidative phosphorylation. These benefits arise through control of morphology, content exchange, equitable inheritance of mitochondria, maintenance of high-quality mitochondrial DNA, and segregation of damaged mitochondria for degradation. The key components of the machinery mediating mitochondrial fusion and fission belong to the dynamin family of GTPases that utilize GTP hydrolysis to drive mechanical work on biological membranes. Defects in this machinery cause a range of diseases that especially affect the nervous system. In addition, several common diseases, including neurodegenerative diseases and cancer, strongly affect mitochondrial dynamics. Expected final online publication date for the Annual Review of Pathology: Mechanisms of Disease, Volume 15 is January 24, 2020. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":""},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathmechdis-012419-032711","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47312933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 520

DAMPs, PAMPs, and LAMPs in Immunity and Sterile Inflammation. 免疫和无菌炎症中的DAMP、PAMP和LAMP。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032847

J. Zindel, P. Kubes

{"title":"DAMPs, PAMPs, and LAMPs in Immunity and Sterile Inflammation.","authors":"J. Zindel, P. Kubes","doi":"10.1146/annurev-pathmechdis-012419-032847","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032847","url":null,"abstract":"Recognizing the importance of leukocyte trafficking in inflammation led to some therapeutic breakthroughs. However, many inflammatory pathologies remain without specific therapy. This review discusses leukocytes in the context of sterile inflammation, a process caused by sterile (non-microbial) molecules, comprising damage-associated molecular patterns (DAMPs). DAMPs bind specific receptors to activate inflammation and start a highly optimized sequence of immune cell recruitment of neutrophils and monocytes to initiate effective tissue repair. When DAMPs are cleared, the recruited leukocytes change from a proinflammatory to a reparative program, a switch that is locally supervised by invariant natural killer T cells. In addition, neutrophils exit the inflammatory site and reverse transmigrate back to the bloodstream. Inflammation persists when the program switch or reverse transmigration fails, or when the coordinated leukocyte effort cannot clear the immunostimulatory molecules. The latter causes inappropriate leukocyte activation, a driver of many pathologies associated with poor lifestyle choices. We discuss lifestyle-associated inflammatory diseases and their corresponding immunostimulatory lifestyle-associated molecular patterns (LAMPs) and distinguish them from DAMPs. Expected final online publication date for the Annual Review of Pathology: Mechanisms of Disease, Volume 15 is January 24, 2020. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":""},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathmechdis-012419-032847","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45565779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 350