Molecular Mechanisms Of Xeroderma Pigmentosum

Author : Shamim Ahmad,Fumio Hanaoka
Publisher : Springer Science & Business Media
Page : 191 pages
File Size : 42,5 Mb
Release : 2008-11-30
Category : Science
ISBN : 9780387095998

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Molecular Mechanisms of Xeroderma Pigmentosum by Shamim Ahmad,Fumio Hanaoka Pdf

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)

Author : Wolfram Siede,Paul W. Doetsch
Publisher : CRC Press
Page : 871 pages
File Size : 50,6 Mb
Release : 2005-09-19
Category : Medical
ISBN : 9780849352683

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DNA Damage Recognition by Wolfram Siede,Paul W. Doetsch Pdf

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

Author : Shamim I. Ahmad
Publisher : CRC Press
Page : 132 pages
File Size : 46,9 Mb
Release : 2009-06-11
Category : Science
ISBN : 9781498712712

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Molecular Mechanisms of Ataxia Telangiectasia by Shamim I. Ahmad Pdf

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

Author : Peter H. Hoeger,Veronica Kinsler,Albert C. Yan,Christine Bodemer,Margarita Larralde,David Luk,Vibhu Mendiratta,Diana Purvis
Publisher : John Wiley & Sons
Page : 0 pages
File Size : 53,5 Mb
Release : 2019-12-16
Category : Medical
ISBN : 9781119142195

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Harper's Textbook of Pediatric Dermatology, 2 Volume Set by Peter H. Hoeger,Veronica Kinsler,Albert C. Yan,Christine Bodemer,Margarita Larralde,David Luk,Vibhu Mendiratta,Diana Purvis Pdf

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.

Author : Bruce Alberts
Publisher : Unknown
Page : 0 pages
File Size : 50,6 Mb
Release : 2002
Category : Cytology
ISBN : 0815332181

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Molecular Biology of The Cell by Bruce Alberts Pdf

Author : Miral Dizdaroglu,R Stephen Lloyd
Publisher : Royal Society of Chemistry
Page : 509 pages
File Size : 42,9 Mb
Release : 2020-11-11
Category : Science
ISBN : 9781839162565

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DNA Damage, DNA Repair and Disease by Miral Dizdaroglu,R Stephen Lloyd Pdf

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.

Author : Philip Hanawalt,Richard Burton Setlow
Publisher : Springer
Page : 456 pages
File Size : 52,7 Mb
Release : 1975-10
Category : Science
ISBN : UOM:39015035717407

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Molecular Mechanisms for Repair of DNA by Philip Hanawalt,Richard Burton Setlow Pdf

Author : Chikako Nishigori,Kaoru Sugasawa
Publisher : Springer
Page : 221 pages
File Size : 41,5 Mb
Release : 2018-12-31
Category : Medical
ISBN : 9789811067228

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DNA Repair Disorders by Chikako Nishigori,Kaoru Sugasawa Pdf

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,Graham C. Walker,Wolfram Siede,Richard D. Wood
Publisher : American Society for Microbiology Press
Page : 2587 pages
File Size : 50,6 Mb
Release : 2005-11-22
Category : Science
ISBN : 9781555813192

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DNA Repair and Mutagenesis by Errol C. Friedberg,Graham C. Walker,Wolfram Siede,Richard D. Wood Pdf

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.

Author : Jack J. Pasternak
Publisher : John Wiley & Sons
Page : 656 pages
File Size : 43,6 Mb
Release : 2005-06-14
Category : Science
ISBN : 9780471719175

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An Introduction to Human Molecular Genetics by Jack J. Pasternak Pdf

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 : Shamim I. Ahmad
Publisher : CRC Press
Page : 130 pages
File Size : 45,9 Mb
Release : 2009-07-22
Category : Science
ISBN : 9781498712705

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Molecular Mechanisms of Cockayne Syndrome by Shamim I. Ahmad Pdf

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

Author : Paul A. Schulte,Frederica P. Perera
Publisher : Academic Press
Page : 609 pages
File Size : 41,8 Mb
Release : 2012-12-02
Category : Medical
ISBN : 9780323138574

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Molecular Epidemiology by Paul A. Schulte,Frederica P. Perera Pdf

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 : Jörg Reichrath
Publisher : Springer Science & Business Media
Page : 148 pages
File Size : 51,9 Mb
Release : 2007-06-25
Category : Medical
ISBN : 9780387350981

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Molecular Mechanisms of Basal Cell and Squamous Cell Carcinomas by Jörg Reichrath Pdf

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.

Author : Anonim
Publisher : Unknown
Page : 728 pages
File Size : 45,6 Mb
Release : 2010
Category : Government publications
ISBN : UCSD:31822037817723

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How Tobacco Smoke Causes Disease by Anonim Pdf

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.

Author : Shamim Ahmad,Sandra Kirk
Publisher : Springer Science & Business Media
Page : 134 pages
File Size : 52,6 Mb
Release : 2007-03-06
Category : Science
ISBN : 9780387337760

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Molecular Mechanisms of Fanconi Anemia by Shamim Ahmad,Sandra Kirk Pdf

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.