Annual Review of Pathology-Mechanisms of Disease最新文献_第6页

Pathogenesis of Zika Virus Infection. 寨卡病毒感染的发病机制。

IF 28.4 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2023-01-24 Epub Date: 2022-09-23 DOI: 10.1146/annurev-pathmechdis-031521-034739

Maria I Giraldo, Maria Gonzalez-Orozco, Ricardo Rajsbaum

引用次数: 0

Genetics and Pathogenesis of Parkinson's Syndrome. 帕金森综合症的遗传和发病机制。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2023-01-24 Epub Date: 2022-09-13 DOI: 10.1146/annurev-pathmechdis-031521-034145

Hui Ye, Laurie A Robak, Meigen Yu, Matthew Cykowski, Joshua M Shulman

{"title":"Genetics and Pathogenesis of Parkinson's Syndrome.","authors":"Hui Ye, Laurie A Robak, Meigen Yu, Matthew Cykowski, Joshua M Shulman","doi":"10.1146/annurev-pathmechdis-031521-034145","DOIUrl":"10.1146/annurev-pathmechdis-031521-034145","url":null,"abstract":"Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous, resisting distillation to a single, cohesive disorder. Instead, each affected individual develops a virtually unique form of Parkinson's syndrome. Clinical manifestations consist of variable motor and nonmotor features, and myriad overlaps are recognized with other neurodegenerative conditions. Although most commonly characterized by alpha-synuclein protein pathology throughout the central and peripheral nervous systems, the distribution varies and other pathologies commonly modify PD or trigger similar manifestations. Nearly all PD is genetically influenced. More than 100 genes or genetic loci have been identified, and most cases likely arise from interactions among many common and rare genetic variants. Despite its complex architecture, insights from experimental genetic dissection coalesce to reveal unifying biological themes, including synaptic, lysosomal, mitochondrial, andimmune-mediated mechanisms of pathogenesis. This emerging understanding of Parkinson's syndrome, coupled with advances in biomarkers and targeted therapies, presages successful precision medicine strategies.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"18 ","pages":"95-121"},"PeriodicalIF":36.2,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9703828","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: 0

The Development and Consequences of Red Blood Cell Alloimmunization. 红细胞同种异体免疫的发展及其后果。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2023-01-24 DOI: 10.1146/annurev-pathol-042320-110411

Connie M Arthur, Sean R Stowell

{"title":"The Development and Consequences of Red Blood Cell Alloimmunization.","authors":"Connie M Arthur, Sean R Stowell","doi":"10.1146/annurev-pathol-042320-110411","DOIUrl":"https://doi.org/10.1146/annurev-pathol-042320-110411","url":null,"abstract":"While red blood cell (RBC) transfusion is the most common medical intervention in hospitalized patients, as with any therapeutic, it is not without risk. Allogeneic RBC exposure can result in recipient alloimmunization, which can limit the availability of compatible RBCs for future transfusions and increase the risk of transfusion complications. Despite these challenges and the discovery of RBC alloantigens more than a century ago, relatively little has historically been known regarding the immune factors that regulate RBC alloantibody formation. Through recent epidemiological approaches, in vitro-based translational studies, and newly developed preclinical models, the processes that govern RBC alloimmunization have emerged as more complex and intriguing than previously appreciated. Although common alloimmunization mechanisms exist, distinct immune pathways can be engaged, depending on the target alloantigen involved. Despite this complexity, key themes are beginning to emerge that may provide promising approaches to not only actively prevent but also possibly alleviate the most severe complications of RBC alloimmunization.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"18 ","pages":"537-564"},"PeriodicalIF":36.2,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9971372","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: 13

Recent Advances in Understanding of Pathogenesis of Alcohol-Associated Liver Disease. 了解酒精相关肝病发病机制的最新进展。

IF 28.4 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2023-01-24 Epub Date: 2022-10-21 DOI: 10.1146/annurev-pathmechdis-031521-030435

Xiaoqin Wu, Xiude Fan, Tatsunori Miyata, Adam Kim, Christina K Cajigas-Du Ross, Semanti Ray, Emily Huang, Moyinoluwa Taiwo, Rakesh Arya, Jianguo Wu, Laura E Nagy

{"title":"Recent Advances in Understanding of Pathogenesis of Alcohol-Associated Liver Disease.","authors":"Xiaoqin Wu, Xiude Fan, Tatsunori Miyata, Adam Kim, Christina K Cajigas-Du Ross, Semanti Ray, Emily Huang, Moyinoluwa Taiwo, Rakesh Arya, Jianguo Wu, Laura E Nagy","doi":"10.1146/annurev-pathmechdis-031521-030435","DOIUrl":"10.1146/annurev-pathmechdis-031521-030435","url":null,"abstract":"Alcohol-associated liver disease (ALD) is one of the major diseases arising from chronic alcohol consumption and is one of the most common causes of liver-related morbidity and mortality. ALD includes asymptomatic liver steatosis, fibrosis, cirrhosis, and alcohol-associated hepatitis and its complications. The progression of ALD involves complex cell-cell and organ-organ interactions. We focus on the impact of alcohol on dysregulation of homeostatic mechanisms and regulation of injury and repair in the liver. In particular, we discuss recent advances in understanding the disruption of balance between programmed cell death and prosurvival pathways, such as autophagy and membrane trafficking, in the pathogenesis of ALD. We also summarize current understanding of innate immune responses, liver sinusoidal endothelial cell dysfunction and hepatic stellate cell activation, and gut-liver and adipose-liver cross talk in response to ethanol. In addition,we describe the current potential therapeutic targets and clinical trials aimed at alleviating hepatocyte injury, reducing inflammatory responses, and targeting gut microbiota, for the treatment of ALD.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"18 ","pages":"411-438"},"PeriodicalIF":28.4,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9208152","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: 0

Common Variable Immunodeficiency: More Pathways than Roads to Rome. 共同变量免疫缺陷:通往罗马的路比通往罗马的路多。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2023-01-24 DOI: 10.1146/annurev-pathmechdis-031521-024229

Xiao P Peng, Andrés Caballero-Oteyza, Bodo Grimbacher

{"title":"Common Variable Immunodeficiency: More Pathways than Roads to Rome.","authors":"Xiao P Peng, Andrés Caballero-Oteyza, Bodo Grimbacher","doi":"10.1146/annurev-pathmechdis-031521-024229","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-031521-024229","url":null,"abstract":"Fifty years have elapsed since the term common variable immunodeficiency (CVID) was introduced to accommodate the many and varied antibody deficiencies being identified in patients with suspected inborn errors of immunity (IEIs). Since then, how the term is understood and applied for diagnosis and management has undergone many revisions, though controversy persists on how exactly to define and classify CVID. Many monogenic disorders have been added under its aegis, while investigations into polygenic, epigenetic, and somatic contributions to CVID susceptibility have gained momentum. Expansion of the overall IEI landscape has increasingly revealed genotypic and phenotypic overlap between CVID and various other immunological conditions, while increasingly routine genotyping of CVID patients continues to identify an incredible diversity of pathophysiological mechanisms affecting even single genes. Though many questions remain to be answered, the lessons we have already learned from CVID biology have greatly informed our understanding of adaptive, but also innate, immunity.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"18 ","pages":"283-310"},"PeriodicalIF":36.2,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9250263","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: 11

Desmosomal Cadherins in Health and Disease. 健康与疾病中的桥粒体钙粘蛋白。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2022-01-24 DOI: 10.1146/annurev-pathol-042320-092912

Marihan Hegazy, Abbey L Perl, Sophia A Svoboda, Kathleen J Green

{"title":"Desmosomal Cadherins in Health and Disease.","authors":"Marihan Hegazy, Abbey L Perl, Sophia A Svoboda, Kathleen J Green","doi":"10.1146/annurev-pathol-042320-092912","DOIUrl":"https://doi.org/10.1146/annurev-pathol-042320-092912","url":null,"abstract":"Desmosomal cadherins are a recent evolutionary innovation that make up the adhesive core of highly specialized intercellular junctions called desmosomes. Desmosomal cadherins, which are grouped into desmogleins and desmocollins, are related to the classical cadherins, but their cytoplasmic domains are tailored for anchoring intermediate filaments instead of actin to sites of cell-cell adhesion. The resulting junctions are critical for resisting mechanical stress in tissues such as the skin and heart. Desmosomal cadherins also act as signaling hubs that promote differentiation and facilitate morphogenesis, creating more complex and effective tissue barriers in vertebrate tissues. Interference with desmosomal cadherin adhesive and supra-adhesive functions leads to a variety of autoimmune, hereditary, toxin-mediated, and malignant diseases. We review our current understanding of how desmosomal cadherins contribute to human health and disease, highlight gaps in our knowledge about their regulation and function, and introduce promising new directions toward combatting desmosome-related diseases.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"17 ","pages":"47-72"},"PeriodicalIF":36.2,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8792335/pdf/nihms-1761925.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9159533","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: 28

Extrachromosomal DNA: An Emerging Hallmark in Human Cancer. 染色体外DNA:人类癌症的新标志。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2022-01-24 DOI: 10.1146/annurev-pathmechdis-051821-114223

Sihan Wu, Vineet Bafna, Howard Y Chang, Paul S Mischel

引用次数: 37

Precision Medicine in Low- and Middle-Income Countries. 低收入和中等收入国家的精准医疗。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2022-01-24 DOI: 10.1146/annurev-pathol-042320-034052

Jerald P Radich, Edward Briercheck, Daniel T Chiu, Manoj P Menon, Olga Sala Torra, Cecilia C S Yeung, Edus H Warren

引用次数: 7

Molecular Pathology of Laminopathies. 椎板病的分子病理学。

IF 36.2 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2022-01-24 DOI: 10.1146/annurev-pathol-042220-034240

Ji-Yeon Shin, Howard J Worman

{"title":"Molecular Pathology of Laminopathies.","authors":"Ji-Yeon Shin, Howard J Worman","doi":"10.1146/annurev-pathol-042220-034240","DOIUrl":"https://doi.org/10.1146/annurev-pathol-042220-034240","url":null,"abstract":"The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. Laminopathies are diseases caused by mutations in genes encoding protein components of the lamina and these other nuclear envelope substructures. Mutations in the single gene encoding lamin A and C, which are expressed in most differentiated somatic cells, cause diseases affecting striated muscle, adipose tissue, peripheral nerve, and multiple systems with features of accelerated aging. Mutations in genes encoding other nuclear envelope proteins also cause an array of diseases that selectively affect different tissues or organs. In some instances, the molecular and cellular consequences of laminopathy-causing mutations are known. However, even when these are understood, mechanisms explaining specific tissue or organ pathology remain enigmatic. Current mechanistic hypotheses focus on how alterations in the nuclear envelope may affect gene expression, including via the regulation of signaling pathways, or cellular mechanics, including responses to mechanical stress.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"17 ","pages":"159-180"},"PeriodicalIF":36.2,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8881990/pdf/nihms-1780906.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10599349","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: 41

Innate Immunity and Cancer Pathophysiology. 先天免疫与癌症病理生理学

IF 28.4 1区医学

Annual Review of Pathology-Mechanisms of Disease Pub Date : 2022-01-24 Epub Date: 2021-11-17 DOI: 10.1146/annurev-pathmechdis-032221-115501

Laura Maiorino, Juliane Daßler-Plenker, Lijuan Sun, Mikala Egeblad

{"title":"Innate Immunity and Cancer Pathophysiology.","authors":"Laura Maiorino, Juliane Daßler-Plenker, Lijuan Sun, Mikala Egeblad","doi":"10.1146/annurev-pathmechdis-032221-115501","DOIUrl":"10.1146/annurev-pathmechdis-032221-115501","url":null,"abstract":"Chronic inflammation increases the risk of several cancers, including gastric, colon, and hepatic cancers. Conversely, tumors, similar to tissue injury, trigger an inflammatory response coordinated by the innate immune system. Cellular and molecular mediators of inflammation modulate tumor growth directly and by influencing the adaptive immune response. Depending on the balance of immune cell types and signals within the tumor microenvironment, inflammation can support or restrain the tumor. Adding to the complexity, research from the past two decades has revealed that innate immune cells are highly heterogeneous and plastic, with variable phenotypes depending on tumor type, stage, and treatment. The field is now on the cusp of being able to harness this wealth of data to (a) classify tumors on the basis of their immune makeup, with implications for prognosis, treatment choice, and clinical outcome, and (b) design therapeutic strategies that activate antitumor immune responses by targeting innate immune cells.","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"17 ","pages":"425-457"},"PeriodicalIF":28.4,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9012188/pdf/nihms-1771797.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10662651","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: 0