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Molecular Mechanisms Of Xeroderma Pigmentosum
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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
Book Synopsis Harper's Textbook of Pediatric Dermatology, 2 Volume Set by : Peter H. Hoeger
Download or read book Harper's Textbook of Pediatric Dermatology, 2 Volume Set written by Peter H. Hoeger and published by John Wiley & Sons. This book was released on 2019-12-16 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A consummate classic with a fresh approach to pediatric dermatology Children ́s skin is different. Maturation affects the epidermal barrier, the cutaneous microbiome, adnexal structures, vasculature, and transcutaneous absorption of drugs. The immature skin is more susceptible to pathogens and environmental disruption. Many genetic disorders are either present at birth or manifest early in childhood. Skin diseases thus present differently in children than in adults. Pediatric dermatology has seen significant advances over the last decade, particularly in the field of molecular genetics research, which has furthered our understanding of the pathogenesis of many skin diseases and the development of new approaches to treatment. This fourth edition of the Harper classic provides state-of-the-art information on all aspects of skin disease in children. It covers the diagnosis and treatment of all conditions - both common and rare - with a consistently evidence-based approach. Existing content has been refreshed and fully updated to reflect emerging thinking and to incorporate the latest in research and clinical data - especially at the genetic level. This new fourth edition includes: Greater focus on the genetics behind skin disease, including new genes/genodermatoses, progress in genetic analysis, and stem cell transplants Increased coverage of lasers and other technologies used to treat skin disease More summary tables, learning points, tables of differential diagnosis, and clinical algorithms for diagnosis and management Additional online features, including patient information links and multiple choice questions Harper's Textbook of Pediatric Dermatology delivers crucial clinical insights and up-to-date research information that spans the breadth of the field. As the most comprehensive reference book on this subject available, this revised fourth edition will support and guide the daily practice of both dermatologists and pediatricians across the world.
Book Synopsis Molecular Biology of The Cell by : Bruce Alberts
Download or read book Molecular Biology of The Cell written by Bruce Alberts and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis DNA Damage, DNA Repair and Disease by : Miral Dizdaroglu
Download or read book DNA Damage, DNA Repair and Disease written by Miral Dizdaroglu and published by Royal Society of Chemistry. This book was released on 2020-11-11 with total page 509 pages. Available in PDF, EPUB and Kindle. Book excerpt: The DNA of all organisms is constantly being damaged by endogenous and exogenous sources. Oxygen metabolism generates reactive species that can damage DNA, proteins and other organic compounds in living cells. Exogenous sources include ionizing and ultraviolet radiations, carcinogenic compounds and environmental toxins among others. The discovery of multiple DNA lesions and DNA repair mechanisms showed the involvement of DNA damage and DNA repair in the pathogenesis of many human diseases, most notably cancer. These books provide a comprehensive overview of the interdisciplinary area of DNA damage and DNA repair, and their relevance to disease pathology. Edited by recognised leaders in the field, this two-volume set is an appealing resource to a variety of readers including chemists, chemical biologists, geneticists, cancer researchers and drug discovery scientists.
Book Synopsis Neurocutaneous Disorders by : Martino Ruggieri
Download or read book Neurocutaneous Disorders written by Martino Ruggieri and published by Springer Science & Business Media. This book was released on 2009-10-01 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Book Synopsis Molecular Mechanisms of Ataxia Telangiectasia by : Shamim I. Ahmad
Download or read book Molecular Mechanisms of Ataxia Telangiectasia written by Shamim I. Ahmad and published by CRC Press. This book was released on 2009-06-11 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although the medial survival rate of affected persons is b
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.
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 Biology of Cancer by : Lauren Pecorino
Download or read book Molecular Biology of Cancer written by Lauren Pecorino and published by Oxford University Press. This book was released on 2012-04-26 with total page 365 pages. Available in PDF, EPUB and Kindle. Book excerpt: Demonstrating how the malfunction of normal molecular pathways and components can lead to cancer, this text explores how our understanding of these defective mechanisms can be harnessed to develop new targeted therapeutic agents.
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.
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.
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 Molecular Mechanisms of Basal Cell and Squamous Cell Carcinomas by : Jörg Reichrath
Download or read book Molecular Mechanisms of Basal Cell and Squamous Cell Carcinomas written by Jörg Reichrath and published by Springer Science & Business Media. This book was released on 2007-06-25 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, highly readable overview of our current knowledge of the molecular pathology of basal cell and squamous cell carcinomas. The chapters present the newest findings in epidemiology, photocarcinogenesis, genetics, immunology and molecular pathology of these epithelial skin tumours. The book will interest researchers or clinicians interested in the carcinogenesis and biology of basal cell or squamous cell carcinomas.
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 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.
Book Synopsis International Manual of Oncology Practice by : Ramon Andrade De Mello
Download or read book International Manual of Oncology Practice written by Ramon Andrade De Mello and published by Springer Nature. This book was released on 2019-10-15 with total page 1162 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer is a very aggressive disease and currently it has been considered a challenge to oncologists and cancer patients worldwide. Nowadays, several therapeutic strategies had improved toward last decades. Surgery is many times still the best curative treatment, mainly in early stage disease. However, Radiotherapy and chemotherapy acquired a main role in this scenario. Target therapies were introduced for medical oncology practice and are demonstrating a hallmark of a new era in cancer treatment. More recently, immunotherapy has been considered the novel cornerstone in cancer treatment. The 2nd edition of the International Manual of Oncology Practice (iMOP) emerged after the great success of the iMOP 1st edition as a reference for medical oncologists and medical residents in the field. In this edition, several chapters were revised and its addresses from the molecular issues of cancer sciences to the clinical practice in medical oncology. In addition, multiple choice questions and clinical cases were included in the main chapters in order to improve the reader learning. The book focuses systemic treatments in many areas of medical oncology, such as breast cancer, gastrointestinal, thoracic, urological oncology, head and neck tumors, bone tumors, sarcomas and palliative care. The topics herein discussed will provide the readers a step forward in the medical oncology practice understanding and give facilities for help in cancer patient treatments.
