Annual Review of Pathology-Mechanisms of Disease最新文献_第10页

Autophagy Defects in Skeletal Myopathies. 骨骼肌疾病中的自噬缺陷。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032618

M. Margeta

{"title":"Autophagy Defects in Skeletal Myopathies.","authors":"M. Margeta","doi":"10.1146/annurev-pathmechdis-012419-032618","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032618","url":null,"abstract":"Autophagy is an evolutionarily conserved catabolic process that targets different types of cytoplasmic cargo (such as bulk cytoplasm, damaged cellular organelles, and misfolded protein aggregates) for lysosomal degradation. Autophagy is activated in response to biological stress and also plays a critical role in the maintenance of normal cellular homeostasis; the latter function is particularly important for the integrity of postmitotic, metabolically active tissues, such as skeletal muscle. Through impairment of muscle homeostasis, autophagy dysfunction contributes to the pathogenesis of many different skeletal myopathies; the observed autophagy defects differ from disease to disease but have been shown to involve all steps of the autophagic cascade (from induction to lysosomal cargo degradation) and to impair both bulk and selective autophagy. To highlight the molecular and cellular mechanisms that are shared among different myopathies with deficient autophagy, these disorders are discussed based on the nature of the underlying autophagic defect rather than etiology or clinical presentation. 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-012419-032618","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45127623","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: 35

Legionnaires' Disease: State of the Art Knowledge of Pathogenesis Mechanisms of Legionella. 军团病:军团菌发病机制的最新研究进展。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032742

S. Mondino, S. Schmidt, M. Rolando, Pedro Escoll, L. Gomez-Valero, C. Buchrieser

{"title":"Legionnaires' Disease: State of the Art Knowledge of Pathogenesis Mechanisms of Legionella.","authors":"S. Mondino, S. Schmidt, M. Rolando, Pedro Escoll, L. Gomez-Valero, C. Buchrieser","doi":"10.1146/annurev-pathmechdis-012419-032742","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032742","url":null,"abstract":"Legionella species are environmental gram-negative bacteria able to cause a severe form of pneumonia in humans known as Legionnaires' disease. Since the identification of Legionella pneumophila in 1977, four decades of research on Legionella biology and Legionnaires' disease have brought important insights into the biology of the bacteria and the molecular mechanisms that these intracellular pathogens use to cause disease in humans. Nowadays, Legionella species constitute a remarkable model of bacterial adaptation, with a genus genome shaped by their close coevolution with amoebae and an ability to exploit many hosts and signaling pathways through the secretion of a myriad of effector proteins, many of which have a eukaryotic origin. This review aims to discuss current knowledge of Legionella infection mechanisms and future research directions to be taken that might answer the many remaining open questions. This research will without a doubt be a terrific scientific journey worth taking. 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":"1 1","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-012419-032742","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42856423","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: 133

Genomic and Epigenomic Alterations in Chronic Lymphocytic Leukemia. 慢性淋巴细胞白血病的基因组和表观基因组改变。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032810

Ferran Nadeu, Ander Diaz-Navarro, Julio Delgado, Xose S Puente, Elías Campo

{"title":"Genomic and Epigenomic Alterations in Chronic Lymphocytic Leukemia.","authors":"Ferran Nadeu, Ander Diaz-Navarro, Julio Delgado, Xose S Puente, Elías Campo","doi":"10.1146/annurev-pathmechdis-012419-032810","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032810","url":null,"abstract":"Chronic lymphocytic leukemia is a common disease in Western countries and has heterogeneous clinical behavior. The relevance of the genetic basis of the disease has come to the forefront recently, with genome-wide studies that have provided a comprehensive view of structural variants, somatic mutations, and different layers of epigenetic changes. The mutational landscape is characterized by relatively common copy number alterations, a few mutated genes occurring in 10-15% of cases, and a large number of genes mutated in a small number of cases. The epigenomic profile has revealed a marked reprogramming of regulatory regions in tumor cells compared with normal B cells. All of these alterations are differentially distributed in clinical and biological subsets of the disease, indicating that they may underlie the heterogeneous evolution of the disease. These global studies are revealing the molecular complexity of chronic lymphocytic leukemia and provide new perspectives that have helped to understand its pathogenic mechanisms and improve the clinical management of patients.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"15 ","pages":"149-177"},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathmechdis-012419-032810","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37576372","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: 13

New Insights into Malaria Pathogenesis. 疟疾发病机制的新认识。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032640

C. Moxon, M. Gibbins, D. McGuinness, D. Milner, M. Marti

引用次数: 82

Contributions of Eosinophils to Human Health and Disease. 嗜酸性粒细胞对人类健康和疾病的贡献

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032756

Amy D Klion, Steven J Ackerman, Bruce S Bochner

引用次数: 0

Unraveling Disease Pathophysiology with Mathematical Modeling. 用数学模型揭示疾病病理生理学。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032557

Brody H Foy, Bronner P Gonçalves, John M Higgins

引用次数: 4

The Pathogenesis of Nodding Syndrome. 点头综合征的发病机制。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032748

Tory P Johnson, James Sejvar, Thomas B Nutman, Avindra Nath

引用次数: 15

Our Conflict with Transposable Elements and Its Implications for Human Disease. 我们与转座因子的冲突及其对人类疾病的影响。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032633

Kathleen H Burns

{"title":"Our Conflict with Transposable Elements and Its Implications for Human Disease.","authors":"Kathleen H Burns","doi":"10.1146/annurev-pathmechdis-012419-032633","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032633","url":null,"abstract":"Our genome is a historic record of successive invasions of mobile genetic elements. Like other eukaryotes, we have evolved mechanisms to limit their propagation and minimize the functional impact of new insertions. Although these mechanisms are vitally important, they are imperfect, and a handful of retroelement families remain active in modern humans. This review introduces the intrinsic functions of transposons, the tactics employed in their restraint, and the relevance of this conflict to human pathology. The most straightforward examples of disease-causing transposable elements are germline insertions that disrupt a gene and result in a monogenic disease allele. More enigmatic are the abnormal patterns of transposable element expression in disease states. Changes in transposon regulation and cellular responses to their expression have implicated these sequences in diseases as diverse as cancer, autoimmunity, and neurodegeneration. Distinguishing their epiphenomenal from their pathogenic effects may provide wholly new perspectives on our understanding of disease.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"15 ","pages":"51-70"},"PeriodicalIF":36.2,"publicationDate":"2020-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-pathmechdis-012419-032633","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37576369","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: 66

Human Organoids: Tools for Understanding Biology and Treating Diseases. 人类类器官：理解生物学和治疗疾病的工具。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032611

Frans Schutgens, H. Clevers

{"title":"Human Organoids: Tools for Understanding Biology and Treating Diseases.","authors":"Frans Schutgens, H. Clevers","doi":"10.1146/annurev-pathmechdis-012419-032611","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032611","url":null,"abstract":"Organoids are in vitro-cultured three-dimensional structures that recapitulate key aspects of in vivo organs. They can be established from pluripotent stem cells and from adult stem cells, the latter being the subject of this review. Organoids derived from adult stem cells exploit the tissue regeneration process that is driven by these cells, and they can be established directly from the healthy or diseased epithelium of many organs. Organoids are amenable to any experimental approach that has been developed for cell lines. Applications in experimental biology involve the modeling of tissue physiology and disease, including malignant, hereditary, and infectious diseases. Biobanks of patient-derived tumor organoids are used in drug development research, and they hold promise for developing personalized and regenerative medicine. In this review, we discuss the applications of adult stem cell-derived organoids in the laboratory and the clinic. 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-012419-032611","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44038809","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: 249

The Origin and Pathogenesis of Endometriosis. 子宫内膜异位症的起源和发病机制。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2020-01-24 DOI: 10.1146/annurev-pathmechdis-012419-032654

Yeh Wang, K. Nicholes, I. Shih

{"title":"The Origin and Pathogenesis of Endometriosis.","authors":"Yeh Wang, K. Nicholes, I. Shih","doi":"10.1146/annurev-pathmechdis-012419-032654","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-012419-032654","url":null,"abstract":"Recent molecular genetic findings on endometriosis and normal endometrium suggest a modified model in which circulating epithelial progenitor or stem cells intended to regenerate uterine endometrium after menstruation may become overreactive and trapped outside the uterus. These trapped epithelium-committed progenitor cells form nascent glands through clonal expansion and recruit polyclonal stromal cells, leading to the establishment of deep infiltrating endometriosis. Once formed, the ectopic tissue becomes subject to immune surveillance, resulting in chronic inflammation. The inflammatory response orchestrated by nuclear factor-κB signaling is exacerbated by aberrations in the estrogen receptor-β and progesterone receptor pathways, which are also affected by local inflammation, forming a dysregulated inflammation-hormonal loop. Glandular epithelium within endometriotic tissue harbors cancer-associated mutations that are frequently detected in endometriosis-related ovarian cancers. In this review, we summarize recent advances that have illuminated the origin and pathogenesis of endometriosis and have provided new avenues for research that promise to improve the early diagnosis and management of endometriosis. 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-012419-032654","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48221413","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: 182