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Molecular Mechanisms Of Cockayne Syndrome
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Book Synopsis Molecular Mechanisms of Cockayne Syndrome by : Shamim I. Ahmad
Download or read book Molecular Mechanisms of Cockayne Syndrome written by Shamim I. Ahmad and published by CRC Press. This book was released on 2009-07-22 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cockayne syndrome (CS) is a rare autosomal genetic disorder that was first identified almost 62 years ago by Alfred Cockayne and was named after him. The earliest publication record (PubMed) available is a paper by Marie et al in 1958. Since then 815 research papers including excellent reviews have been published (PubMed, December 2008), yet we are
Book Synopsis Molecular Mechanisms of Cockayne Syndrome by :
Download or read book Molecular Mechanisms of Cockayne Syndrome written by and published by . This book was released on 2009 with total page 111 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cockayne syndrome (CS) is a rare autosomal genetic disorder that was first identified almost 62 years ago by Alfred Cockayne and was named after him. The earliest publication record (PubMed) available is a paper by Marie et al in 1958. Since then 815 research papers including excellent reviews have been published (PubMed, December 2008), yet we are a long way from fully understanding the exact molecular mechanisms of this disease. Ironically, like many other inborn genetic defects, CS is still incurable; the mean life expectancy of the patients is 12.5 years. Major milestones in the study of CS.
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 Molecular Mechanisms of Aging by : Konrad Beyreuther
Download or read book Molecular Mechanisms of Aging written by Konrad Beyreuther and published by Springer. This book was released on 1990-07-23 with total page 220 pages. Available in PDF, EPUB and Kindle. Book excerpt: A high-level text on the molecular and genetic aspects of human ageing with reference to cognitive functions and age-related diseases."
Book Synopsis DNA Repair Disorders by : Chikako Nishigori
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.
Book Synopsis Chromatin Signaling and Neurological Disorders by :
Download or read book Chromatin Signaling and Neurological Disorders written by and published by Academic Press. This book was released on 2019-05-24 with total page 378 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromatin Signaling and Neurological Disorders, Volume Seven, explores our current understanding of how chromatin signaling regulates access to genetic information, and how their aberrant regulation can contribute to neurological disorders. Researchers, students and clinicians will not only gain a strong grounding on the relationship between chromatin signaling and neurological disorders, but they'll also discover approaches to better interpret and employ new diagnostic studies and epigenetic-based therapies. A diverse range of chapters from international experts speaks to the basis of chromatin and epigenetic signaling pathways and specific chromatin signaling factors that regulate a range of diseases. In addition to the basic science of chromatin signaling factors, each disease-specific chapter speaks to the translational or clinical significance of recent findings, along with important implications for the development of epigenetics-based therapeutics. Common themes of translational significance are also identified across disease types, as well as the future potential of chromatin signaling research. Examines specific chromatin signaling factors that regulate spinal muscular atrophy, ulbospinal muscular atrophy, amyotrophic lateral sclerosis, Parkinson's disease, Huntington's disease, multiple sclerosis, Angelman syndrome, Rader-Willi syndrome, and more Contains chapter contributions from international experts who speak to the clinical significance of recent findings and the implications for the development of epigenetics-based therapeutics Provides researchers, students and clinicians with approaches to better interpret and employ new diagnostic studies for treating neurological disorders
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
Book Synopsis DNA Repair Mechanisms by : ICN Pharmaceuticals, inc
Download or read book DNA Repair Mechanisms written by ICN Pharmaceuticals, inc and published by . This book was released on 1978 with total page 840 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA Repair Mechanisms is an account of the proceedings at a major international conference on DNA Repair Mechanisms held at Keystone, Colorado on February 1978. The conference discusses through plenary sessions the overall standpoint of DNA repair. The papers presented and other important documents, such as short summaries by the workshop session conveners, comprise this book. The compilation describes the opposing views, those that agree and dispute about certain topic areas. This book, divided into 15 parts, is arranged according to the proceedings in the conference. The plenary sessions are ...
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
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 Inborn Errors of Development by : Charles J. Epstein
Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Book Synopsis Genomic and Precision Medicine by : Geoffrey S. Ginsburg
Download or read book Genomic and Precision Medicine written by Geoffrey S. Ginsburg and published by Academic Press. This book was released on 2022-04-09 with total page 379 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice Covers case studies that highlight the practical use of genomics in the management of patients
Book Synopsis Base Excision Repair Pathway, The: Molecular Mechanisms And Role In Disease Development And Therapeutic Design by : Wilson Iii David M
Download or read book Base Excision Repair Pathway, The: Molecular Mechanisms And Role In Disease Development And Therapeutic Design written by Wilson Iii David M and published by World Scientific. This book was released on 2016-12-08 with total page 824 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as the preeminent text book on the topic of "base excision repair", a key DNA repair pathway that protects cells from most spontaneous forms of DNA damage, including oxidative lesions that arise both in the nuclear and mitochondrial genomes. The book, which includes contributions from many of the world leaders in the field, provides a detailed description of the molecular mechanisms of base excision repair, as well as its emerging relationship to epigenetic regulation, the aging process and human disease, such as cancer susceptibility, immunological defects and neurological disorders. The book will also cover the state-of-the-art technologies being developed to assess base excision repair capacity among individuals in the population, in addition to the strategies being employed to target base excision repair as part of therapeutic paradigms to eradicate disease, namely cancer. This book represents one of the most extensive efforts to date to cover the topic of "base excision repair". It includes chapters by many of the most established investigators in the field, from all over the world.
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 How Tobacco Smoke Causes Disease by :
Download or read book How Tobacco Smoke Causes Disease written by 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 Diseases of DNA Repair by : Shamim Ahmad
Download or read book Diseases of DNA Repair written by Shamim Ahmad and published by Springer Science & Business Media. This book was released on 2011-01-11 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia‐like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.
Download or read book The Ovary written by Peter C. K. Leung and published by Academic Press. This book was released on 2018-09-10 with total page 625 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Ovary, Third Edition, includes more than 60% new material that highlights the clinical aspects of human ovarian functions. It covers advances in the areas of genomics, assisted reproductive technology, and cancer diagnosis and treatment. This updated edition synthesizes new information at the molecular, cellular and organismal levels, while also presenting modern ovarian physiology in a more understandable and comparative context. The book looks at ovarian function from a detailed molecular and cellular level that examines all phases of the ovarian lifecycle that places special emphasis on the pathophysiology of the human ovary, including ovarian carcinogenesis. Represents an unparalleled compilation of chapters that are relevant to contemporary ovarian physiology Provides basic and clinical research on ovarian function, abnormalities, assisted reproductive technology, and cancer Highlights contemporary strategies and treatment paradigms in female factor infertility
