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  • Our Conflict with Transposable Elements and Its Implications for Human Disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Kathleen H Burns

    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

    更新日期:2020-01-26
  • Enabling Precision Oncology Through Precision Diagnostics.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Noah A Brown,Kojo S J Elenitoba-Johnson

    Genomic testing enables clinical management to be tailored to individual cancer patients based on the molecular alterations present within cancer cells. Genomic sequencing results can be applied to detect and classify cancer, predict prognosis, and target therapies. Next-generation sequencing has revolutionized the field of cancer genomics by enabling rapid and cost-effective sequencing of large portions

    更新日期:2020-01-26
  • Genomic and Epigenomic Alterations in Chronic Lymphocytic Leukemia.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Ferran Nadeu,Ander Diaz-Navarro,Julio Delgado,Xose S Puente,Elías Campo

    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

    更新日期:2020-01-26
  • Contributions of Eosinophils to Human Health and Disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Amy D Klion,Steven J Ackerman,Bruce S Bochner

    The human eosinophil has long been thought to favorably influence innate mucosal immunity but at times has also been incriminated in disease pathophysiology. Research into eosinophil biology has uncovered a number of interesting contributions by eosinophils to health and disease. However, it appears that not all eosinophils from all species are created equal. It remains unclear, for example, exactly

    更新日期:2020-01-26
  • Unraveling Disease Pathophysiology with Mathematical Modeling.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Brody H Foy,Bronner P Gonçalves,John M Higgins

    Modeling has enabled fundamental advances in our understanding of the mechanisms of health and disease for centuries, since at least the time of William Harvey almost 500 years ago. Recent technological advances in molecular methods, computation, and imaging generate optimism that mathematical modeling will enable the biomedical research community to accelerate its efforts in unraveling the molecular

    更新日期:2020-01-26
  • The Pathogenesis of Nodding Syndrome.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Tory P Johnson,James Sejvar,Thomas B Nutman,Avindra Nath

    Nodding syndrome is a rare, enigmatic form of pediatric epilepsy that has occurred in an epidemic fashion beginning in the early 2000s in geographically distinct regions of Africa. Despite extensive investigation, the etiology of nodding syndrome remains unclear, although much progress has been made in understanding the pathogenesis of the disease, as well as in treatment and prevention. Nodding syndrome

    更新日期:2020-01-26
  • SWI/SNF Complex Mutations in Gynecologic Cancers: Molecular Mechanisms and Models.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2020-01-24
    Yemin Wang,Lien Hoang,Jennifer X Ji,David G Huntsman

    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

    更新日期:2020-01-26
  • Cardiovascular Disease, Aging, and Clonal Hematopoiesis
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-11-05
    Megan A. Evans, Soichi Sano, Kenneth Walsh

    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

    更新日期:2019-11-05
  • Cardiovascular Disease, Aging, and Clonal Hematopoiesis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-11-05
    Megan A Evans,Soichi Sano,Kenneth Walsh

    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

    更新日期:2019-11-01
  • DAMPs, PAMPs, and LAMPs in Immunity and Sterile Inflammation
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-11-01
    Joel Zindel, Paul Kubes

    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

    更新日期:2019-11-01
  • DAMPs, PAMPs, and LAMPs in Immunity and Sterile Inflammation.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-11-01
    Joel Zindel,Paul Kubes

    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

    更新日期:2019-11-01
  • Legionnaires' Disease: State of the Art Knowledge of Pathogenesis Mechanisms of Legionella.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-10-28
    Sonia Mondino,Silke Schmidt,Monica Rolando,Pedro Escoll,Laura Gomez-Valero,Carmen Buchrieser

    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

    更新日期:2019-11-01
  • New Insights into Malaria Pathogenesis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-10-24
    Christopher A Moxon,Matthew P Gibbins,Dagmara McGuinness,Danny A Milner,Matthias Marti

    Malaria remains a major public health threat in tropical and subtropical regions across the world. Even though less than 1% of malaria infections are fatal, this leads to about 430,000 deaths per year, predominantly in young children in sub-Saharan Africa. Therefore, it is imperative to understand why a subset of infected individuals develop severe syndromes and some of them die and what differentiates

    更新日期:2019-11-01
  • Microbial Contribution to the Human Metabolome: Implications for Health and Disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-10-17
    William Van Treuren,Dylan Dodd

    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

    更新日期:2019-11-01
  • Molecular Pathogenesis of Membranous Nephropathy.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-10-17
    Pierre Ronco,Hanna Debiec

    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

    更新日期:2019-11-01
  • Autophagy Defects in Skeletal Myopathies.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-10-08
    Marta Margeta

    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

    更新日期:2019-11-01
  • Mitochondrial Dynamics and Its Involvement in Disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-10-04
    David C Chan

    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

    更新日期:2019-11-01
  • Human Organoids: Tools for Understanding Biology and Treating Diseases.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-09-24
    Frans Schutgens,Hans Clevers

    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

    更新日期:2019-11-01
  • Diversity, Mechanisms, and Significance of Macrophage Plasticity.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-09-17
    Massimo Locati,Graziella Curtale,Alberto Mantovani

    Macrophages are a diverse set of cells present in all body compartments. This diversity is imprinted by their ontogenetic origin (embryonal versus adult bone marrow-derived cells); the organ context; by their activation or deactivation by various signals in the contexts of microbial invasion, tissue damage, and metabolic derangement; and by polarization of adaptive T cell responses. Classic adaptive

    更新日期:2019-11-01
  • The Origin and Pathogenesis of Endometriosis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-09-03
    Yeh Wang,Kristen Nicholes,Ie-Ming Shih

    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

    更新日期:2019-11-01
  • Liver Progenitors and Adult Cell Plasticity in Hepatic Injury and Repair: Knowns and Unknowns.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-08-09
    Sungjin Ko,Jacquelyn O Russell,Laura M Molina,Satdarshan P Monga

    The liver is a complex organ performing numerous vital physiological functions. For that reason, it possesses immense regenerative potential. The capacity for repair is largely attributable to the ability of its differentiated epithelial cells, hepatocytes and biliary epithelial cells, to proliferate after injury. However, in cases of extreme acute injury or prolonged chronic insult, the liver may

    更新日期:2019-11-01
  • Development of the Intrahepatic and Extrahepatic Biliary Tract: A Framework for Understanding Congenital Diseases.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2019-07-12
    Frédéric P Lemaigre

    The involvement of the biliary tract in the pathophysiology of liver diseases and the increased attention paid to bile ducts in the bioconstruction of liver tissue for regenerative therapy have fueled intense research into the fundamental mechanisms of biliary development. Here, I review the molecular, cellular and tissular mechanisms driving differentiation and morphogenesis of the intrahepatic and

    更新日期:2019-11-01
  • Mechanisms of MicroRNAs in Atherosclerosis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Andreas Schober,Christian Weber

    The maladaptation of endothelial cells to disturbed flow at arterial bifurcations increases permeability for lipoproteins. Additional injury by chemically modified lipoproteins disrupts the continuous repair of maladapted endothelial cells and triggers intimal macrophage accumulation. Macrophages remove modified lipoproteins from the extracellular space until the cholesterol overload leads to macrophage

    更新日期:2019-11-01
  • Hypoxia and Mucosal Inflammation.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Sean P Colgan,Eric L Campbell,Douglas J Kominsky

    Sites of inflammation are defined by significant changes in metabolic activity. Recent studies have suggested that O2 metabolism and hypoxia play a prominent role in inflammation so-called "inflammatory hypoxia," which results from a combination of recruited inflammatory cells (e.g., neutrophils and monocytes), the local proliferation of multiple cell types, and the activation of multiple O2-consuming

    更新日期:2019-11-01
  • Hematopoietic Stem Cell Niche in Health and Disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Jonathan Hoggatt,Youmna Kfoury,David T Scadden

    Regulation of stem cells in adult tissues is a key determinant of how well an organism can respond to the stresses of physiological challenge and disease. This is particularly true of the hematopoietic system, where demands on host defenses can call for an acute increase in cell production. Hematopoietic stem cells receive the regulatory signals for cell production in adult mammals in the bone marrow

    更新日期:2019-11-01
  • Obesity, Inflammation, and Cancer.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Tuo Deng,Christopher J Lyon,Stephen Bergin,Michael A Caligiuri,Willa A Hsueh

    Obesity, a worldwide epidemic, confers increased risk for multiple serious conditions, including cancer, and is increasingly recognized as a growing cause of preventable cancer risk. Chronic inflammation, a well-known mediator of cancer, is a central characteristic of obesity, leading to many of its complications, and obesity-induced inflammation confers additional cancer risk beyond obesity itself

    更新日期:2019-11-01
  • The Role of Surgical Pathology in Guiding Cancer Immunotherapy.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Scott B Lovitch,Scott J Rodig

    The recognition that the immune system can identify and destroy tumor cells has driven a paradigm shift in our understanding of human cancer. Therapies designed to enhance this capacity, including cancer vaccines and coinhibitory receptor blockade, have demonstrated clinical efficacy in treating tumors refractory to conventional therapy. In this review, we discuss how the analysis of the immune microenvironment

    更新日期:2019-11-01
  • Pathogenesis of Myeloproliferative Disorders.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Jyoti Nangalia,Jacob Grinfeld,Anthony R Green

    Myeloproliferative neoplasms (MPNs) are a set of chronic hematopoietic neoplasms with overlapping clinical and molecular features. Recent years have witnessed considerable advances in our understanding of their pathogenetic basis. Due to their protracted clinical course, the evolution to advanced hematological malignancies, and the accessibility of neoplastic tissue, the study of MPNs has provided

    更新日期:2019-11-01
  • Cancer Stem Cells: Basic Concepts and Therapeutic Implications.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-05-20
    Dany Nassar,Cédric Blanpain

    Different mechanisms contribute to intratumor heterogeneity, including genetic mutations, the microenvironment, and the existence of subpopulations of cancer cells with increased renewal capacity and the ability to recapitulate the heterogeneity found in primary tumors, which are referred to as cancer stem cells (CSCs). In this review, we discuss how the concept of CSCs has been defined, what assays

    更新日期:2019-11-01
  • The Roles of MDM2 and MDMX in Cancer.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-30
    Orit Karni-Schmidt,Maria Lokshin,Carol Prives

    For more than 25 years, MDM2 and its homolog MDMX (also known as MDM4) have been shown to exert oncogenic activity. These two proteins are best understood as negative regulators of the p53 tumor suppressor, although they may have additional p53-independent roles. Understanding the dysregulation of MDM2 and MDMX in human cancers and how they function either together or separately in tumorigenesis may

    更新日期:2019-11-01
  • Bronchiectasis: Current Concepts in Pathogenesis, Immunology, and Microbiology.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-17
    Rosemary J Boyton,Daniel M Altmann

    Bronchiectasis is a disorder of persistent lung inflammation and recurrent infection, defined by a common pathological end point: irreversible bronchial dilatation arrived at through diverse etiologies. This suggests an interplay between immunogenetic susceptibility, immune dysregulation, bacterial infection, and lung damage. The damaged epithelium impairs mucus removal and facilitates bacterial infection

    更新日期:2019-11-01
  • Gliomas Genomics and Epigenomics: Arriving at the Start and Knowing It for the First Time.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-17
    Mariella G Filbin,Mario L Suvà

    Gliomas are the most common primary human brain tumors and occur in both adults and children. Over the past few years, systematic large-scale genomic and epigenomic profiling has provided unprecedented insight into their pathogenesis, uncovering alterations in an unanticipated number of genes and regulatory elements. In this review, we discuss recent discoveries about the genomics and epigenomics of

    更新日期:2019-11-01
  • Nonalcoholic Fatty Liver Disease: Pathogenesis and Disease Spectrum.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-17
    Timothy Hardy,Fiona Oakley,Quentin M Anstee,Christopher P Day

    Nonalcoholic fatty liver disease (NAFLD) is the most common cause of liver dysfunction in the Western world and is increasing owing to its close association with obesity and insulin resistance. NAFLD represents a spectrum of liver disease that, in a minority of patients, can lead to progressive nonalcoholic steatohepatitis (NASH), fibrosis, and ultimately hepatocellular carcinoma and liver failure

    更新日期:2019-11-01
  • Mechanisms of Disease of Eosinophilic Esophagitis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-02
    Benjamin P Davis,Marc E Rothenberg

    Eosinophilic esophagitis (EoE) is a recently recognized inflammatory disease of the esophagus with clinical symptoms derived from esophageal dysfunction. The etiology of EoE is now being elucidated, and food hypersensitivity is emerging as the central cornerstone of disease pathogenesis. Herein, we present a thorough picture of the current clinical, pathologic, and molecular understanding of the disease

    更新日期:2019-11-01
  • Pathogenesis of Staphylococcus aureus Bloodstream Infections.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-02
    Lena Thomer,Olaf Schneewind,Dominique Missiakas

    Staphylococcus aureus, a Gram-positive bacterium colonizing nares, skin, and the gastrointestinal tract, frequently invades the skin, soft tissues, and bloodstreams of humans. Even with surgical and antibiotic therapy, bloodstream infections are associated with significant mortality. The secretion of coagulases, proteins that associate with and activate the host hemostatic factor prothrombin, and the

    更新日期:2019-11-01
  • Genetics of Cardiac Developmental Disorders: Cardiomyocyte Proliferation and Growth and Relevance to Heart Failure.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-03-02
    Lisa Wilsbacher,Elizabeth M McNally

    Cardiac developmental disorders represent the most common of human birth defects, and anomalies in cardiomyocyte proliferation drive many of these disorders. This review highlights the molecular mechanisms of prenatal cardiac growth. Trabeculation represents the initial ventricular growth phase and is necessary for embryonic survival. Later in development, the bulk of the ventricular wall derives from

    更新日期:2019-11-01
  • Genetics and Pathogenesis of Inflammatory Bowel Disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    Ta-Chiang Liu,Thaddeus S Stappenbeck

    We are currently in an exciting time when our understanding of genetic underpinnings of inflammatory bowel disease (IBD) has undergone a revolution, based in large part on novel genotyping and sequencing technologies. With >160 susceptible loci identified for IBD, the goal is now to understand at a fundamental level the function of these susceptibility alleles. Determining the clinical relevance of

    更新日期:2019-11-01
  • Mechanisms of Disease: Pemphigus and Bullous Pemphigoid.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    Christoph M Hammers,John R Stanley

    Pemphigus and bullous pemphigoid are autoantibody-mediated blistering skin diseases. In pemphigus, keratinocytes in epidermis and mucous membranes lose cell-cell adhesion, and in pemphigoid, the basal keratinocytes lose adhesion to the basement membrane. Pemphigus lesions are mediated directly by the autoantibodies, whereas the autoantibodies in pemphigoid fix complement and mediate inflammation. In

    更新日期:2019-11-01
  • Origins of Bladder Cancer.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    Bogdan Czerniak,Colin Dinney,David McConkey

    Bladder cancer, one of the most frequently occurring human cancers, develops via two tracks referred to as papillary and nonpapillary that correspond to clinically different forms of the disease. Most bladder cancers are chemically induced, with tobacco smoking being the leading risk factor. Recent advances in bladder cancer research have enhanced our understanding of the origin of this disease from

    更新日期:2019-11-01
  • Dendritic Spine Pathology in Neurodegenerative Diseases.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    Jochen Herms,Mario M Dorostkar

    Substantial progress has been made toward understanding the neuropathology, genetic origins, and epidemiology of neurodegenerative diseases, including Alzheimer's disease; tauopathies, such as frontotemporal dementia; α-synucleinopathies, such as Parkinson's disease or dementia with Lewy bodies; Huntington's disease; and amyotrophic lateral sclerosis with dementia, as well as prion diseases. Recent

    更新日期:2019-11-01
  • Organoids as Models for Neoplastic Transformation.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    James T Neal,Calvin J Kuo

    Cancer models strive to recapitulate the incredible diversity inherent in human tumors. A key challenge in accurate tumor modeling lies in capturing the panoply of homo- and heterotypic cellular interactions within the context of a three-dimensional tissue microenvironment. To address this challenge, researchers have developed organotypic cancer models (organoids) that combine the 3D architecture of

    更新日期:2019-11-01
  • Mechanisms and Consequences of Cancer Genome Instability: Lessons from Genome Sequencing Studies.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    June-Koo Lee,Yoon-La Choi,Mijung Kwon,Peter J Park

    During tumor evolution, cancer cells can accumulate numerous genetic alterations, ranging from single nucleotide mutations to whole-chromosomal changes. Although a great deal of progress has been made in the past decades in characterizing genomic alterations, recent cancer genome sequencing studies have provided a wealth of information on the detailed molecular profiles of such alterations in various

    更新日期:2019-11-01
  • Disorders of Vascular Permeability.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-02-26
    Cindy Park-Windhol,Patricia A D'Amore

    The endothelial barrier maintains vascular and tissue homeostasis and modulates many physiological processes, such as angiogenesis. Vascular barrier integrity can be disrupted by a variety of soluble permeability factors, and changes in barrier function can exacerbate tissue damage during disease progression. Understanding endothelial barrier function is critical for vascular homeostasis. Many of the

    更新日期:2019-11-01
  • Chronic Traumatic Encephalopathy: The Neuropathological Legacy of Traumatic Brain Injury.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2016-01-17
    Jennifer Hay,Victoria E Johnson,Douglas H Smith,William Stewart

    Almost a century ago, the first clinical account of the punch-drunk syndrome emerged, describing chronic neurological and neuropsychiatric sequelae occurring in former boxers. Thereafter, throughout the twentieth century, further reports added to our understanding of the neuropathological consequences of a career in boxing, leading to descriptions of a distinct neurodegenerative pathology, termed dementia

    更新日期:2019-11-01
  • An Odyssey to Viral Pathogenesis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-10-31
    Michael B A Oldstone

    This odyssey is mine from early junior high school, where my dreams for adventure were shaped by Arthur Conan Doyle's Sherlock Holmes, Percival Christopher Wren's Beau Geste, and best of all the remarkable explorers in Paul de Kruif's Microbe Hunters. My birth site was in Manhattan (my mother was a Vogue model and my father worked in retail), and I traveled to college at the University of Alabama,

    更新日期:2019-11-01
  • Protein glycosylation in cancer.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    Sean R Stowell,Tongzhong Ju,Richard D Cummings

    Neoplastic transformation results in a wide variety of cellular alterations that impact the growth, survival, and general behavior of affected tissue. Although genetic alterations underpin the development of neoplastic disease, epigenetic changes can exert an equally significant effect on neoplastic transformation. Among neoplasia-associated epigenetic alterations, changes in cellular glycosylation

    更新日期:2019-11-01
  • Genetics and epigenetics of human retinoblastoma.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    Claudia A Benavente,Michael A Dyer

    Retinoblastoma is a pediatric tumor of the developing retina from which the genetic basis for cancer development was first described. Inactivation of both copies of the RB1 gene is the predominant initiating genetic lesion in retinoblastoma and is rate limiting for tumorigenesis. Recent whole-genome sequencing of retinoblastoma uncovered a tumor that had no coding-region mutations or focal chromosomal

    更新日期:2019-11-01
  • DNA replication stress as a hallmark of cancer.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    Morgane Macheret,Thanos D Halazonetis

    Human cancers share properties referred to as hallmarks, among which sustained proliferation, escape from apoptosis, and genomic instability are the most pervasive. The sustained proliferation hallmark can be explained by mutations in oncogenes and tumor suppressors that regulate cell growth, whereas the escape from apoptosis hallmark can be explained by mutations in the TP53, ATM, or MDM2 genes. A

    更新日期:2019-11-01
  • Diseases of pulmonary surfactant homeostasis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    Jeffrey A Whitsett,Susan E Wert,Timothy E Weaver

    Advances in physiology and biochemistry have provided fundamental insights into the role of pulmonary surfactant in the pathogenesis and treatment of preterm infants with respiratory distress syndrome. Identification of the surfactant proteins, lipid transporters, and transcriptional networks regulating their expression has provided the tools and insights needed to discern the molecular and cellular

    更新日期:2019-11-01
  • Engineered in vitro disease models.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    Kambez H Benam,Stephanie Dauth,Bryan Hassell,Anna Herland,Abhishek Jain,Kyung-Jin Jang,Katia Karalis,Hyun Jung Kim,Luke MacQueen,Roza Mahmoodian,Samira Musah,Yu-suke Torisawa,Andries D van der Meer,Remi Villenave,Moran Yadid,Kevin K Parker,Donald E Ingber

    The ultimate goal of most biomedical research is to gain greater insight into mechanisms of human disease or to develop new and improved therapies or diagnostics. Although great advances have been made in terms of developing disease models in animals, such as transgenic mice, many of these models fail to faithfully recapitulate the human condition. In addition, it is difficult to identify critical

    更新日期:2019-11-01
  • The emerging picture of autism spectrum disorder: genetics and pathology.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    Jason A Chen,Olga Peñagarikano,T Grant Belgard,Vivek Swarup,Daniel H Geschwind

    Autism spectrum disorder (ASD) is defined by impaired social interaction and communication accompanied by stereotyped behaviors and restricted interests. Although ASD is common, its genetic and clinical features are highly heterogeneous. A number of recent breakthroughs have dramatically advanced our understanding of ASD from the standpoint of human genetics and neuropathology. These studies highlight

    更新日期:2019-11-01
  • Pathobiology of transfusion reactions.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2015-01-27
    James C Zimring,Steven L Spitalnik

    Antibody-induced hemolytic transfusion reactions were first described over 300 years ago. Indeed, during its early evolution, transfusion medicine focused almost exclusively on issues in immunohematology to prevent such events. However, despite the best of efforts to avoid them, incompatible transfusions still occur, through both error and an inability to obtain compatible red blood cells for patients

    更新日期:2019-11-01
  • The inflammasomes and autoinflammatory syndromes.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-26
    Lori Broderick,Dominic De Nardo,Bernardo S Franklin,Hal M Hoffman,Eicke Latz

    Inflammation, a vital response of the immune system to infection and damage to tissues, can be initiated by various germline-encoded innate immune-signaling receptors. Among these, the inflammasomes are critical for activation of the potent proinflammatory interleukin-1 cytokine family. Additionally, inflammasomes can trigger and maintain inflammatory responses aimed toward excess nutrients and the

    更新日期:2019-11-01
  • Pathobiology of severe asthma.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-26
    Humberto E Trejo Bittar,Samuel A Yousem,Sally E Wenzel

    Severe asthma (SA) afflicts a heterogeneous group of asthma patients who exhibit poor responses to traditional asthma medications. SA patients likely represent 5-10% of all asthma patients; however, they have a higher economic burden when compared with milder asthmatics. Considerable research has been performed on pathological pathways and structural changes associated with SA. Although limitations

    更新日期:2019-11-01
  • Birth and pathogenesis of rogue respiratory viruses.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-26
    David Safronetz,Heinz Feldmann,Emmie de Wit

    Emerging infectious diseases of zoonotic origin are shaping today's infectious disease field more than ever. In this article, we introduce and review three emerging zoonotic viruses. Novel hantaviruses emerged in the Americas in the mid-1990s as the cause of severe respiratory infections, designated hantavirus pulmonary syndrome, with case fatality rates of around 40%. Nipah virus emerged a few years

    更新日期:2019-11-01
  • The role of endoplasmic reticulum stress in human pathology.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-12
    Scott A Oakes,Feroz R Papa

    Numerous genetic and environmental insults impede the ability of cells to properly fold and posttranslationally modify secretory and transmembrane proteins in the endoplasmic reticulum (ER), leading to a buildup of misfolded proteins in this organelle--a condition called ER stress. ER-stressed cells must rapidly restore protein-folding capacity to match protein-folding demand if they are to survive

    更新日期:2019-11-01
  • Leukocyte chemoattractant receptors in human disease pathogenesis.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-12
    Brian A Zabel,Alena Rott,Eugene C Butcher

    Combinations of leukocyte attractant ligands and cognate heptahelical receptors specify the systemic recruitment of circulating cells by triggering integrin-dependent adhesion to endothelial cells, supporting extravasation, and directing specific intratissue localization via gradient-driven chemotaxis. Chemoattractant receptors also control leukocyte egress from lymphoid organs and peripheral tissues

    更新日期:2019-11-01
  • SWI/SNF chromatin remodeling and human malignancies.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-12
    Julien Masliah-Planchon,Ivan Bièche,Jean-Marc Guinebretière,Franck Bourdeaut,Olivier Delattre

    The SWI/SNF complexes, initially identified in yeast 20 years ago, are a family of multi-subunit complexes that use the energy of adenosine triphosphate (ATP) hydrolysis to remodel nucleosomes. Chromatin remodeling processes mediated by the SWI/SNF complexes are critical to the modulation of gene expression across a variety of cellular processes, including stemness, differentiation, and proliferation

    更新日期:2019-11-01
  • A clearer view of the molecular complexity of clear cell renal cell carcinoma.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-12
    Ian J Frew,Holger Moch

    The von Hippel-Lindau (VHL) tumor suppressor gene is mutated as an early event in almost all cases of clear cell renal cell carcinoma (ccRCC), the most frequent form of kidney cancer. In this review we discuss recent advances in understanding how dysregulation of the many hypoxia-inducible factor α-dependent and -independent functions of the VHL tumor suppressor protein (pVHL) can contribute to tumor

    更新日期:2019-11-01
  • Emerging concepts in Alzheimer's disease.
    Ann. Review Paleopathol. Mech. Disease (IF 13.8333) Pub Date : 2014-11-12
    Harry V Vinters

    Alzheimer's disease/senile dementia of the Alzheimer type (AD/SDAT) is the most common neuropathologic substrate of dementia. It is characterized by synapse loss (predominantly within neocortex) as well as deposition of certain distinctive lesions (the result of protein misfolding) throughout the brain. The latter include senile plaques, composed mainly of an amyloid (Aβ) core and a neuritic component;

    更新日期:2019-11-01
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