Download or read book DNA Damage Responses in Nijmegen Breakage Syndrome written by Vikky Yamazaki and published by . This book was released on 1999 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Primary Immunodeficiency Diseases written by Hans D. Ochs and published by . This book was released on 2007 with total page 745 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders--disorders featuring an increased susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune systam could be understood at a molecular level. This new edition can proudly document the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.
Download or read book DNA Repair Deficiency Disorders Advances in Research and Treatment 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 27 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA Repair-Deficiency Disorders—Advances in Research and Treatment: 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DNA Repair-Deficiency Disorders in a compact format. The editors have built DNA Repair-Deficiency Disorders—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about DNA Repair-Deficiency Disorders in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of DNA Repair-Deficiency Disorders—Advances in Research and Treatment: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Download or read book The Role of Ataxia Telangiectasia mutated and Nijmegen Breakage Syndrome Protein 1 in the Accumlation of UVC induced DNA Replication dependent Double Strand Breaks written by Brian R. Johnson and published by . This book was released on 2002 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Maintaining the integrity of any genome is a critical function that requires proteins involved in DNA replication, damage recognition and repair. Particularly deleterious to chromosomal integrity are agents such as ionizing radiation (IR) that cause DNA double strand breaks (DSBs) directly. It has also been suggested that UV-induced DNA damage contributes to the formation of DSBs in dividing cells. UV light does not break DNA directly; it is possible that replication fork arrest at UV-induced lesions leads to the formation of DSBs. Here we examine whether UVC causes DSBs, the role of DNA replication in the formation of breaks, and signal transduction pathways involved in UV-induced DNA damage and repair responses. Both ataxia telangiectasia-mutated (ATM) and a downstream target of ATM, Nijmegen breakage syndrome protein or nibrin (NBS1) play major roles in sensing and responding to DNA damage caused by DSBs mediated through IR. Here we show that A-T cells (cells lacking ATM) accumulated more UVC-induced DSBs. These data suggest that ATM is required for signaling the repair of DSBs generated by replication of UV-damaged templates. By contrast, NBS cells (cells lacking NBS1) showed fewer DSBs, suggesting that NBS1 may be required to induce the initial DSB. The NBS1 protein was bound more tightly in the nucleus after treatment with UVC. The nuclear retention of NBS1 protein was seen as early as 4 h after UVC. We also found that the nuclear retention of NBS1 was increased after UVC radiation in a time-dependent manner. The increased retention of NBS1 after UVC suggests its possible activation after UVC and that this treatment stimulates the association with the NBS1/MRE11/RAD50 DSB repair complex. Our data from the PFGE analysis and neutral comet assay may suggest the NBS1 protein may participate in the generation of the DSBs produced after replication of UV-damaged templates. Taken together, our results suggest that ATM and NBS1 are involved in response to UVC-induced DSBs.
Download or read book Cyclin Dependent Kinase 5 Cdk5 written by Nancy Y. Ip and published by Springer Science & Business Media. This book was released on 2009-02-28 with total page 326 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cyclin Dependent Kinase 5 provides a comprehensive and up-to-date collection of reviews on the discovery, signaling mechanisms and functions of Cdk5, as well as the potential implication of Cdk5 in the treatment of neurodegenerative diseases. Since the identification of this unique member of the Cdk family, Cdk5 has emerged as one of the most important signal transduction mediators in the development, maintenance and fine-tuning of neuronal functions and networking. Further studies have revealed that Cdk5 is also associated with the regulation of neuronal survival during both developmental stages and in neurodegenerative diseases. These observations indicate that precise control of Cdk5 is essential for the regulation of neuronal survival. The pivotal role Cdk5 appears to play in both the regulation of neuronal survival and synaptic functions thus raises the interesting possibility that Cdk5 inhibitors may serve as therapeutic treatment for a number of neurodegenerative diseases.
Download or read book DNA Repair and Mutagenesis written by Errol C. Friedberg and published by American Society for Microbiology Press. This book was released on 2005-11-22 with total page 2587 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for all scientists researching cellular responses to DNA damage. • Introduces important new material reflective of the major changes and developments that have occurred in the field over the last decade. • Discussed the field within a strong historical framework, and all aspects of biological responses to DNA damage are detailed. • Provides information on covering sources and consequences of DNA damage; correcting altered bases in DNA: DNA repair; DNA damage tolerance and mutagenesis; regulatory responses to DNA damage in eukaryotes; and disease states associated with defective biological responses to DNA damage.
Download or read book DNA Repair Disorders written by Chikako Nishigori and published by Springer. This book was released on 2018-12-31 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.
Download or read book The DNA Damage Response Implications on Cancer Formation and Treatment written by Kum Kum Khanna and published by Springer Science & Business Media. This book was released on 2009-09-18 with total page 450 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ?eld of cellular responses to DNA damage has attained widespread recognition and interest in recent years commensurate with its fundamental role in the ma- tenance of genomic stability. These responses, which are essential to preventing cellular death or malignant transformation, are organized into a sophisticated s- tem designated the “DNA damage response”. This system operates in all living organisms to maintain genomic stability in the face of constant attacks on the DNA from a variety of endogenous by-products of normal metabolism, as well as exogenous agents such as radiation and toxic chemicals in the environment. The response repairs DNA damage via an intricate cellular signal transduction network that coordinates with various processes such as regulation of DNA replication, tr- scriptional responses, and temporary cell cycle arrest to allow the repair to take place. Defects in this system result in severe genetic disorders involving tissue degeneration, sensitivity to speci?c damaging agents, immunode?ciency, genomic instability, cancer predisposition and premature aging. The ?nding that many of the crucial players involved in DNA damage response are structurally and functionally conserved in different species spurred discoveries of new players through similar analyses in yeast and mammals. We now understand the chain of events that leads to instantaneous activation of the massive cellular responses to DNA lesions. This book summarizes several new concepts in this rapidly evolving ?eld, and the advances in our understanding of the complex network of processes that respond to DNA damage.
Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.
Download or read book Analysis of the Human MRE11 Complex in the Cellular Response to DNA Double Strand Breaks written by Richard Scott Maser and published by . This book was released on 2001 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Primer to the Immune Response written by Tak W. Mak and published by Newnes. This book was released on 2013-12-23 with total page 703 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written in the same engaging conversational style as the acclaimed first edition, Primer to The Immune Response, 2nd Edition is a fully updated and invaluable resource for college and university students in life sciences, medicine and other health professions who need a concise but comprehensive introduction to immunology. The authors bring clarity and readability to their audience, offering a complete survey of the most fundamental concepts in basic and clinical immunology while conveying the subject’s fascinating appeal. The content of this new edition has been completely updated to include current information on all aspects of basic and clinical immunology. The superbly drawn figures are now in full color, complemented by full color plates throughout the book. The text is further enhanced by the inclusion of numerous tables, special topic boxes and brief notes that provide interesting insights. At the end of each chapter, a self-test quiz allows students to monitor their mastery of major concepts, while a set of conceptual questions prompts them to extrapolate further and extend their critical thinking. Moreover, as part of the Academic Cell line of textbooks, Primer to The Immune Response, 2nd Edition contains research passages that shine a spotlight on current experimental work reported in Cell Press articles. These articles also form the basis of case studies that are found in the associated online study guide and are designed to reinforce clinical connections. Complete yet concise coverage of the basic and clinical principles of immunology Engaging conversational writing style that is to the point and very readable Over 200 clear, elegant color illustrations Comprehensive glossary and list of abbreviations
Download or read book Protein Phosphorylation in Human Health written by Cai Huang and published by BoD – Books on Demand. This book was released on 2012-09-06 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: 15 chapters on protein phosphorylation and human health written by expert scientists. Covers most important research hot points, such as Akt, AMPK and mTOR. Bridges the basic protein phosphorylation pathways with human health and diseases. Detailed and comprehensive text with excellent figure illustration.
Download or read book Neurodevelopment and Neurodevelopmental Disorder written by and published by BoD – Books on Demand. This book was released on 2019-11-27 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowadays, neurodevelopmental disorders comprise a large proportion of mental health diagnoses. These disorders, according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, include intellectual disabilities, communication disorders, autism spectrum disorders, attention deficit hyperactivity disorders, specific learning disorders, and motor disorders. Current research is pointing in the direction of schizophrenia, bipolar disorders, and other disorders being included in the category of neurodevelopmental disorders as well. There is a great deal of overlap among these disorders and they are best understood in a dimensional fashion. This book sets out the future of psychiatry in relation to these disorders and what is basically a new understanding of psychiatry in recent decades. Chapters cover topics such as early recognition of schizophrenia, epilepsy, and the genetics of ataxia telangiectasia. Also included is an examination of the complex issue of systems biology and neurodevelopment.
Download or read book DDX11 Helicase in Warsaw Breakage Syndrome DNA Damage Response and Sister Chromatid Cohesion written by and published by . This book was released on 2020 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Primary Immunodeficiency Disorders written by Amos Etzioni and published by Academic Press. This book was released on 2014-09-13 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: Primary Immunodeficiency Disorders: A Historic and Scientific Perspective provides a complete historical context that is crucial for students and researchers concerned with primary immunodeficiency. When researchers have a poor understanding of the way we arrived where we are in research, they can miss important points about a disease, or miss out on how to approach new diseases. This historical knowledge of research can assist greatly by showing how it was done in the past, demonstrating the successes and failures, so that it can be done better in the future. This book provides an understanding of the process going from clinical problem to lab and back to the clinic, based on historical experiences. Its chapters proceed from the discovery of the T and B cell lineages through the first BMT for immunodeficiency disorder; lab investigation and gene therapy for PID; the discovery of the gene for AT and its function; understanding cytokine defects; and many other stops along the way. Facilitates communication among physicians and other investigators concerned with immunological and inflammatory diseases Summarizes for the first time all the known facts from 60 years of primary immunodeficiency research, and teaches how an important field in medicine was established Provides stimulating discussions on developing new medical therapiesHighlights the importance of studying humans to understand mechanisms of disease that affect humans
Download or read book Essentials of Cancer Genomic Computational Approaches and Precision Medicine written by Nosheen Masood and published by Springer Nature. This book was released on 2020-03-20 with total page 499 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book concisely describes the role of omics in precision medicine for cancer therapies. It outlines our current understanding of cancer genomics, shares insights into the process of oncogenesis, and discusses emerging technologies and clinical applications of cancer genomics in prognosis and precision-medicine treatment strategies. It then elaborates on recent advances concerning transcriptomics and translational genomics in cancer diagnosis, clinical applications, and personalized medicine in oncology. Importantly, it also explains the importance of high-performance analytics, predictive modeling, and system biology in cancer research. Lastly, the book discusses current and potential future applications of pharmacogenomics in clinical cancer therapy and cancer drug development.
Download or read book Stress Signaling in Plants Genomics and Proteomics Perspective Volume 2 written by Maryam Sarwat and published by Springer. This book was released on 2016-12-28 with total page 355 pages. Available in PDF, EPUB and Kindle. Book excerpt: This two-volume set takes an in-depth look at stress signaling in plants from a uniquely genomic and proteomic perspective and offers a comprehensive treatise that covers all of the signaling pathways and mechanisms that have been researched so far. Currently, plant diseases, extreme weather caused by climate change, drought and an increase in metals in soil are amongst the major limiting factors of crop production worldwide. They devastate not only the food supply but also the economy of a nation. With global food scarcity in mind, there is an urgent need to develop crop plants with increased stress tolerance so as to meet the global food demands and to preserve the quality of our planet. In order to do this, it is necessary to understand how plants react and adapt to stress from the genomic and proteomic perspective. Plants adapt to stress conditions by activating cascades of molecular mechanisms, which result in alterations in gene expression and synthesis of protective proteins. From the perception of the stimulus to the transduction of the signal, followed by an appropriate cellular response, the plants employ a complex network of primary and secondary messenger molecules. Cells exercise a large number of noticeably distinct signaling pathways to regulate their activity. In order to contend with different environmental adversities, plants have developed a series of mechanisms at the physiological, cellular and molecular levels that respond to stress. Each chapter in this volume provides an in-depth explanation of what we currently know of a particular aspect of stress signaling and where we are heading. Together with the highly successful first volume, Stress Signaling in Plants: Genomics and Proteomics Perspective, Volume 2 covers an important aspect of plant biology for both students and seasoned researchers.
