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Molecular Mechanisms Of Xeroderma Pigmentosum
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Book Synopsis Molecular Mechanisms of Xeroderma Pigmentosum by : Shamim I. Ahmad
Download or read book Molecular Mechanisms of Xeroderma Pigmentosum written by Shamim I. Ahmad and published by Springer. This book was released on 2008-07-25 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: To understand the molecular mechanisms of XP, XP mouse models have been used, and mice deficient in XPA, XPC, XPD, XPG, XPF, and XPA/CSB have been produced and analysed. A recent elegant technique of targeting gene replacement in mouse embryonic stem cells has provided researchers with the ability to generate mutant mice defective in any specific gene(s). 32 Animals generated in this way display phenotypes and symptoms of XP patients, and have provided valuable tools to understand how and where the deficiency in DNA repair may lead to tumor formation, and also in studies of developmental biology and the aging process. Mouse studies have recently contributed to our understanding of the role of ink4a-Arf in increasing the risk of melanoma photocarcinogenesis in an XPC mutant background. As with many other genetic defects, the distribution of XP globally is not uniform. In most cases the frequency of mutation of a particular trait depends when and where a specific mutation arose, and the longer ago that is, the greater the frequency of mutant in the population unless some selective pressure prevailed. Another factor responsible for the high incidence of any mutation is consanguinity. One of the last chapters analyzes the world distribution of XP and shows that Japan has the highest incidence of XP and of varying complementation groups. After Japan perhaps Egypt suffers most from this inborn error. Here it is also shown that the most common complementation groups are XPA and XPC followed by XPV. XPB and XPE are least frequent. In a recent publication, however, 16 Japanese patients with XPV have been diagnosed and confirmed both clinically and at the cellular level. There is no evidence that interest in XP is waning, and this book should provide both the expert and novice researcher in the field with an excellent overview of the current status of research and pointers to future research goals.
Book Synopsis Molecular Mechanisms of Xeroderma Pigmentosum by : Shamim Ahmad
Download or read book Molecular Mechanisms of Xeroderma Pigmentosum written by Shamim Ahmad and published by Springer Science & Business Media. This book was released on 2008-11-30 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: Xeroderma pigmentosum (XP), meaning parchment skin and pigmentary dist- bance, is a rare and mostly autosomal recessive genetic disorder that was originally named by two dermatologists, the Austrian Ferdinand Ritter von Hebra and his H- garian son in law Moritz Kaposi in 1874i and 1883. 2 The earliest published record (PubMed) available on the internet is a publication in 1949 by Ulicna Zapletalova under the title, "Contribution to the pathogenesis of xeroderma pigmentosum". It was in the late 1960s when James Cleaver (contributor of Chapter 1 of this book), at the University of California, San Francisco, while working on nucleotide excision repair (NER), read an article in a local newspaper about XP and soon after obtained a skin biopsy from a patient suffering from XP that showed that cells from it were deficient in NER. Thus, his studies led to the discovery that indeed this genetic defect was due to mutations in DNA repair genes that imbalance the NER pathway. . s The discovery paved the way for further exploration of the link between DNA damage, mutagenesis, neoplastic transformation and DNA repair diseases. Since then, 4,088 papers, incl- ing excellent reviews, on XP are listed on the internet (PubMed data, February 2008), and an XP Society has been established in the USA (http://www. xps. org) and an XP Support Group in the United Kingdom (www. xpsupportgroup. org. uk)
Book Synopsis DNA Damage Recognition by : Wolfram Siede
Download or read book DNA Damage Recognition written by Wolfram Siede and published by CRC Press. This book was released on 2005-09-19 with total page 871 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stands as the most comprehensive guide to the subject-covering every essential topic related to DNA damage identification and repair. Covering a wide array of topics from bacteria to human cells, this book summarizes recent developments in DNA damage repair and recognition while providing timely reviews on the molecular mechanisms employe
Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis An Introduction to Human Molecular Genetics by : Jack J. Pasternak
Download or read book An Introduction to Human Molecular Genetics written by Jack J. Pasternak and published by John Wiley & Sons. This book was released on 2005-06-14 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.
Author :Errol C. Friedberg Publisher :American Society for Microbiology Press ISBN 13 :1555813194 Total Pages :2587 pages Book Rating :4.5/5 (558 download)
Book Synopsis DNA Repair and Mutagenesis by : Errol C. Friedberg
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.
Book Synopsis Molecular Mechanisms of Fanconi Anemia by : Shamim Ahmad
Download or read book Molecular Mechanisms of Fanconi Anemia written by Shamim Ahmad and published by Springer Science & Business Media. This book was released on 2007-03-06 with total page 134 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the only comprehensive treatise available on Fanconi Anemia. It gives a detailed analysis from the clinical to the molecular levels of the disorder. It also allows insight into the mechanisms of responses to DNA damage, and the complex interactions of several previously unknown proteins. The book will give research students a platform for further investigation, and act as a source of information regarding experimental design.
Book Synopsis The Genetic Basis of Human Cancer by : Kenneth W. Kinzler
Download or read book The Genetic Basis of Human Cancer written by Kenneth W. Kinzler and published by McGraw Hill Professional. This book was released on 2002 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: -- Current coverage of diagnosis and treatment on a wide spectrum of active cancer research.
Download or read book The Immune Response written by Tak W. Mak and published by Academic Press. This book was released on 2005-11-11 with total page 1217 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Immune Response is a unique reference work covering the basic and clinical principles of immunology in a modern and comprehensive fashion. Written in an engaging conversational style, the book conveys the broad scope and fascinating appeal of immunology. The book is beautifully illustrated with superb figures as well as many full color plates. This extraordinary work will be an invaluable resource for lecturers and graduate students in immunology, as well as a vital reference for research scientists and clinicians studying related areas in the life and medical sciences. - Current and thorough 30 chapter reference reviewed by luminaries in the field - Unique 'single voice' ensures consistency of definitions and concepts - Comprehensive and elegant illustrations bring key concepts to life - Provides historical context to allow fuller understanding of key issues - Introductory chapters 1-4 serve as an 'Immunology Primer' before topics are discussed in more detail
Book Synopsis Molecular Epidemiology by : Paul A. Schulte
Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Author :United States. Public Health Service. Office of the Surgeon General Publisher : ISBN 13 : Total Pages :728 pages Book Rating :4.:/5 (318 download)
Book Synopsis How Tobacco Smoke Causes Disease by : United States. Public Health Service. Office of the Surgeon General
Download or read book How Tobacco Smoke Causes Disease written by United States. Public Health Service. Office of the Surgeon General and published by . This book was released on 2010 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: This report considers the biological and behavioral mechanisms that may underlie the pathogenicity of tobacco smoke. Many Surgeon General's reports have considered research findings on mechanisms in assessing the biological plausibility of associations observed in epidemiologic studies. Mechanisms of disease are important because they may provide plausibility, which is one of the guideline criteria for assessing evidence on causation. This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke. This evidence is relevant to understanding how smoking causes disease, to identifying those who may be particularly susceptible, and to assessing the potential risks of tobacco products.
Book Synopsis Treatment of Skin Disease by : Mark Lebwohl
Download or read book Treatment of Skin Disease written by Mark Lebwohl and published by Saunders. This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Treatment of Skin Disease is your definitive source for managing the complete range of dermatologic conditions you're likely to encounter in practice. This medical reference book boasts an intuitive and easy to use format that covers the full spectrum of options, equipping you with not only standard treatment strategies, but second- and third-line therapies for instances when other alternatives fail"--Publisher's website
Book Synopsis Sunlight, Vitamin D and Skin Cancer by : Jörg Reichrath
Download or read book Sunlight, Vitamin D and Skin Cancer written by Jörg Reichrath and published by Springer Nature. This book was released on 2020-09-11 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third edition is a comprehensive and updated overview of positive and negative effects of UV-exposure, with a focus on Vitamin D and skin cancer. Researchers, oncologists,and students will be provided with the most significant and timely information related to topics such as the epidemiology of skin cancer, the immune system and skin cancer, ultraviolet damage, DNA repair and Vitamin D in Nonmelanoma skin cancer and malignant melanoma. There have been a number of new, scientific findings in this fast moving field that necessitated a thoroughly updated and revised edition including new Vitamin D metabolites and skin cancer, new findings on the beneficial effects of UV and solar UV and skin cancer, adverse effects of sun protection and sunscreens, sun exposure and mortality, and more. The book will summarize essential, up-to-date information for every clinician or scientist interested in how to balance the positive and negative effects of UV‐exposure to minimize the risks of developing vitamin D deficiency and skin cancer.
Book Synopsis Atlas of Genodermatoses by : Ruggero Caputo
Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Book Synopsis Helicases from All Domains of Life by : Renu Tuteja
Download or read book Helicases from All Domains of Life written by Renu Tuteja and published by Academic Press. This book was released on 2018-10-15 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: Helicases are ubiquitous enzymes found throughout evolution. Research in the helicase field has been going on for a long time now but in recent past with the completion of so many genomes, these enzymes have been discovered in a number of organisms. But the available literature is scattered. The huge number of identified DNA and RNA helicases, along with the structural and functional differences among them, make difficult for the interested scholar to grasp a comprehensive view of the field. Helicases from all Domains of Life is the first book to compile information about helicases from many different organisms in one place. Knowledge of the functions and features of helicases across the different kingdoms of life are a valuable source of novel ideas and information The book begins with a chapter on the evolutionary history of helicases followed by three "overview" chapters: one for bacteria/archaea (which are not mentioned), one for plants/algae and one for human helicases The overview chapters are followed by specific chapters on selected helicases of great importance from a biological/applicative point of view
Book Synopsis Primer to the Immune Response by : Tak W. Mak
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
Book Synopsis The Human Genetic Mutant Cell Repository by :
Download or read book The Human Genetic Mutant Cell Repository written by and published by . This book was released on 1977 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt: