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Molecular Mechanisms Of Ataxia Telangiectasia
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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 The Molecular Basis of Ataxia-telangiectasia (A-T) and A-T- Variants and Genotype-phenotype Relationships Associated with ATM Mutations by : Shlomit Gilad
Download or read book The Molecular Basis of Ataxia-telangiectasia (A-T) and A-T- Variants and Genotype-phenotype Relationships Associated with ATM Mutations written by Shlomit Gilad and published by . This book was released on 1998 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 Neurodegeneration by : Anthony Schapira
Download or read book Neurodegeneration written by Anthony Schapira and published by John Wiley & Sons. This book was released on 2017-02-13 with total page 1078 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors
Book Synopsis Ataxia Telangiectasia by : B. A. Bridges
Download or read book Ataxia Telangiectasia written by B. A. Bridges and published by John Wiley & Sons. This book was released on 1982 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Handbook of Ataxia Disorders by : Thomas Klockgether
Download or read book Handbook of Ataxia Disorders written by Thomas Klockgether and published by CRC Press. This book was released on 2000-08-18 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt: This timely reference presents, for the first time, new findings in molecular genetics that are applicable to the epidemiology, pathogenesis, neuropathology, clinical features, and management of ataxia-bridging the gap between scientific and clinical practice. Organized by the distinctive ataxia disorders, their pathogenesis, and management-facilitating quick and efficient diagnoses! Providing complementary sections on the anatomy of the spinocerebellar system, its normal function, and a history of ataxia research and management, the Handbook of Ataxia Disorders clarifies the impact of identifying the molecular causes of ataxia offers in-depth analysis of dominant and recessive and nonhereditary ataxia disorders explores the vital connection between the genotypes and phenotypes of various degenerative ataxia disorders and more! Written by more than 60 international experts and supplemented with over 2600 literature references, photographs, micrographs, drawings, and tables, the Handbook of Ataxia Disorders is an essential and useful reference for clinical neurologists and neuropathologists, neuropediatricians, geneticists, physiatrists, and medical school students in these disciplines.
Book Synopsis Cerebellar Disorders by : Mario Ubaldo Manto
Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.
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 The DNA Damage Response: Implications on Cancer Formation and Treatment by : Kum Kum Khanna
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.
Book Synopsis Molecular Studies on Mechanisms Underlying Genetic Instability and Homologous Recombination in Human Cells from Normal Donors, Ataxia Telangiectasia and Cancer by : Shujuan Xia
Download or read book Molecular Studies on Mechanisms Underlying Genetic Instability and Homologous Recombination in Human Cells from Normal Donors, Ataxia Telangiectasia and Cancer written by Shujuan Xia and published by . This book was released on 1996 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation Publisher :National Academies Press ISBN 13 :0309133343 Total Pages :422 pages Book Rating :4.3/5 (91 download)
Book Synopsis Health Risks from Exposure to Low Levels of Ionizing Radiation by : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation
Download or read book Health Risks from Exposure to Low Levels of Ionizing Radiation written by Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation and published by National Academies Press. This book was released on 2006-03-23 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.
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.
Download or read book Genetic Disorders written by Maria Puiu and published by IntechOpen. This book was released on 2013-01-09 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.
Book Synopsis Oral Cancer Detection by : Prashanth Panta
Download or read book Oral Cancer Detection written by Prashanth Panta and published by Springer. This book was released on 2019-01-04 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph equips clinicians with the knowledge required to detect oral cancer at the earliest possible stage while simultaneously inspiring researchers to work on novel methods of detection. All the methods employed in the oral cancer context are considered, from simple ones like oral screening to more complex emerging optical methods and biomarker identification strategies. Individual chapters focus on conventional oral screening and application of vital stains, optical methods like white light based fluorescence-reflectance imaging, narrow band imaging, direct-oral-microscopy, and more advanced methods like optical coherence tomography, an in-vivo optical biopsy technique, and photo-acoustic imaging that allows visualization of deeper tissue changes. Novel electrical methods like bio-impedance assessment, occult biophysical methods like crystallization test, and the most promising salivary biomarkers and point-of-care opportunities are covered. Helpful information is also provided on essential topics including, oral potentially malignant disorders, biological aspects and molecular mechanisms underlying oral cancer progression, global epidemiology, concept of diagnostic delays, traditional imaging, and classic histopathology and microscopic features. The newer techniques are currently of active research interest, and can soon become powerful chair-side tools with potential to reduce diagnostic delays and improve survival.
Book Synopsis DNA Replication Stress by : Robert M. Brosh Jr.
Download or read book DNA Replication Stress written by Robert M. Brosh Jr. and published by MDPI. This book was released on 2019-08-27 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Special Issue of International Journal of Molecular Sciences (IJMS) is dedicated to the mechanisms mediated at the molecular and cellular levels in response to adverse genomic perturbations and DNA replication stress. The relevant proteins and processes play paramount roles in nucleic acid transactions to maintain genomic stability and cellular homeostasis. A total of 18 articles are presented which encompass a broad range of highly relevant topics in genome biology. These include replication fork dynamics, DNA repair processes, DNA damage signaling and cell cycle control, cancer biology, epigenetics, cellular senescence, neurodegeneration, and aging. As Guest Editor for this IJMS
Book Synopsis Endonuclease-independent LINE-1 Retrotransposition by : Tammy A. Morrish
Download or read book Endonuclease-independent LINE-1 Retrotransposition written by Tammy A. Morrish and published by . This book was released on 2005 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Disorders written by Maria Puiu and published by IntechOpen. This book was released on 2013-01-09 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.
