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Molecular Mechanisms Of Fanconi Anemia
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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 Synchrotron Radiation in Chemistry and Biology III by : Eckhard Mandelkow
Download or read book Synchrotron Radiation in Chemistry and Biology III written by Eckhard Mandelkow and published by Springer Verlag. This book was released on 1989-01-01 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Molecular Mechanisms in Fanconi's Anemia by : Shamim I. Ahmad, Ph.D.
Download or read book Molecular Mechanisms in Fanconi's Anemia written by Shamim I. Ahmad, Ph.D. and published by Eurekah.Com Incorporated. This book was released on 2003 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
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)
Author :... Schindler-Hoehn Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805582773 Total Pages :243 pages Book Rating :4.8/5 (55 download)
Book Synopsis Fanconi Anemia by : ... Schindler-Hoehn
Download or read book Fanconi Anemia written by ... Schindler-Hoehn and published by Karger Medical and Scientific Publishers. This book was released on 2007-01-01 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure and cellular sensitivity to DNA damaging agents. Following a historical account, exemplary case reports and the current status of FA genes and their mutations, this volume discusses neoplasia in FA as well as current approaches to pre- and postnatal diagnosis. Further topics include revertant mosaicism as a kind of 'natural gene therapy' and hematopoietic stem cell transplantation as the only curative approach in FA. The final chapters investigate evolutionary aspects of the FA genes with special emphasis on the avian genome and the involvement of FA genes in recombinational types of DNA repair. Physicians and researchers in the fields of pediatrics, hematology, cancer, genetics, DNA repair and aging will benefit from understanding this disease, which illustrates the complex network of genomic maintenance systems that protect us from cancer and premature aging.
Book Synopsis DNA Repair in Cancer Therapy by : Mark R. Kelley
Download or read book DNA Repair in Cancer Therapy written by Mark R. Kelley and published by Academic Press. This book was released on 2016-06-07 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA Repair and Cancer Therapy: Molecular Targets and Clinical Applications, Second Edition provides a comprehensive and timely reference that focuses on the translational and clinical use of DNA repair as a target area for the development of diagnostic biomarkers and the enhancement of cancer treatment. Experts on DNA repair proteins from all areas of cancer biology research take readers from bench research to new therapeutic approaches. This book provides a detailed discussion of combination therapies, in other words, how the inhibition of repair pathways can be coupled with chemotherapy, radiation, or DNA damaging drugs. Newer areas in this edition include the role of DNA repair in chemotherapy induced peripheral neuropathy, radiation DNA damage, Fanconi anemia cross-link repair, translesion DNA polymerases, BRCA1-BRCA2 pathway for HR and synthetic lethality, and mechanisms of resistance to clinical PARP inhibitors. Provides a comprehensive overview of the basic and translational research in DNA repair as a cancer therapeutic target Includes timely updates from the earlier edition, including Fanconi Anemia cross-link repair, translesion DNA polymerases, chemotherapy induced peripheral neuropathy, and many other new areas within DNA repair and cancer therapy Saves academic, medical, and pharma researchers time by allowing them to quickly access the very latest details on DNA repair and cancer therapy Assists researchers and research clinicians in understanding the importance of the breakthroughs that are contributing to advances in disease-specific research
Book Synopsis Handbook of Tumor Syndromes by : Dongyou Liu
Download or read book Handbook of Tumor Syndromes written by Dongyou Liu and published by CRC Press. This book was released on 2020-05-08 with total page 1446 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility syndromes). In comparison with sporadic tumors/cancers, tumor syndromes (>300 described so far) tend to occur at a younger age, involve multiple organs and systems, produce multiple (often in a distinct spectrum) and bilateral lesions, form multiple hamartomatous, benign, or precursor lesions; locate in specific site(s), display unique syndromic features, and affect multiple members/generations of a family. This book provides state-of-art and authoritative coverage of nearly 100 tumor syndromes, with chapters presenting overviews of individual tumor syndromes in relation to their biology, epidemiology, pathogenesis, clinical features, diagnosis, treatment, and prognosis. Featuring contributions from oncologists, clinicians, and specialists, the book offers a reliable, comprehensive reference on tumor syndromes for scholars and students of medicine, dentistry, pharmacology, nursing, public health, and other biomedical disciplines. Key Features Reviews the biology, epidemiology, pathogenesis, and clinical features of tumor syndromes Contains up-to-date information on the diagnosis and treatment of tumor syndromes Includes expert coverage from leading oncologists and clinicians Related Titles J. R. McIntosh, Understanding Cancer: An Introduction to the Biology, Medicine, and Societal Implications of This Disease (ISBN 978-0-8153-4535-0) P. S. T. Shanmugam, Understanding Cancer Therapies (ISBN 978-1-1381-9815-9) J. M. Baehring and J. M. Piepmeier, eds., Brain Tumors: Practical Guide to Diagnosis and Treatment (ISBN 978-0-3673-9022-8) D. Liu, Tumors and Cancers: Endocrine Glands – Blood – Marrow – Lymph (ISBN 978-1-4987-2975-8) Dongyou Liu, PhD, has worked at several research and clinical laboratories in Australia and the United States for the past three decades, with a focus on molecular characterization of microbial pathogens and detection of human genetic disorders and tumors/cancers. He is the primary author of more than 50 original research and review articles in various peer-reviewed international journals, the contributor of 197 book chapters, and the editor of more than 10 books.
Book Synopsis Aplastic Anemia by : Hubert Schrezenmeier
Download or read book Aplastic Anemia written by Hubert Schrezenmeier and published by Cambridge University Press. This book was released on 2000 with total page 410 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive and up-to-date clinical reference, with an emphasis on treatment.
Book Synopsis Neonatal Hematology by : Pedro A. de Alarcón
Download or read book Neonatal Hematology written by Pedro A. de Alarcón and published by Cambridge University Press. This book was released on 2021-02-18 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
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 Congenital and Acquired Bone Marrow Failure by : Mahmoud Deeb Aljurf
Download or read book Congenital and Acquired Bone Marrow Failure written by Mahmoud Deeb Aljurf and published by Elsevier. This book was released on 2016-12-23 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital and Acquired Bone Marrow Failure is a comprehensive guide to congenital and acquired bone marrow failure in adult and pediatric patients. Chapters are divided into two sections, acquired aplastic anemia and inherited bone marrow failure syndromes. Content ranges from the basic, to the translational, and from the epidemiology of acquired aplastic anemia and telomere biology, to the management, treatment, and supportive care of pediatric, adult, and geriatric patients. Contributors are world leading experts in the field of bone marrow failure. The book is required reading for residents, fellows, clinicians, and researchers across hematology, oncology, pathology, bone marrow transplantation, pediatrics, and internal medicine. Provides an overview of all congenital and acquired bone marrow failure syndromes Focuses on the molecular pathogenesis, clinical manifestation and diagnosis, laboratory features, and treatment of each disease within the syndromes Features the area of supportive care which is a topic of great interest to infectious disease physicians and those involved in transfusion services
Book Synopsis DNA Replication, Recombination, and Repair by : Fumio Hanaoka
Download or read book DNA Replication, Recombination, and Repair written by Fumio Hanaoka and published by Springer. This book was released on 2016-01-22 with total page 555 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a comprehensive review of the detailed molecular mechanisms of and functional crosstalk among the replication, recombination, and repair of DNA (collectively called the "3Rs") and the related processes, with special consciousness of their biological and clinical consequences. The 3Rs are fundamental molecular mechanisms for organisms to maintain and sometimes intentionally alter genetic information. DNA replication, recombination, and repair, individually, have been important subjects of molecular biology since its emergence, but we have recently become aware that the 3Rs are actually much more intimately related to one another than we used to realize. Furthermore, the 3R research fields have been growing even more interdisciplinary, with better understanding of molecular mechanisms underlying other important processes, such as chromosome structures and functions, cell cycle and checkpoints, transcriptional and epigenetic regulation, and so on. This book comprises 7 parts and 21 chapters: Part 1 (Chapters 1–3), DNA Replication; Part 2 (Chapters 4–6), DNA Recombination; Part 3 (Chapters 7–9), DNA Repair; Part 4 (Chapters 10–13), Genome Instability and Mutagenesis; Part 5 (Chapters 14–15), Chromosome Dynamics and Functions; Part 6 (Chapters 16–18), Cell Cycle and Checkpoints; Part 7 (Chapters 19–21), Interplay with Transcription and Epigenetic Regulation. This volume should attract the great interest of graduate students, postdoctoral fellows, and senior scientists in broad research fields of basic molecular biology, not only the core 3Rs, but also the various related fields (chromosome, cell cycle, transcription, epigenetics, and similar areas). Additionally, researchers in neurological sciences, developmental biology, immunology, evolutionary biology, and many other fields will find this book valuable.
Book Synopsis Pediatric Nephrology by : Ellis D. Avner
Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.
Book Synopsis Telomeres in Health and Disease by :
Download or read book Telomeres in Health and Disease written by and published by Academic Press. This book was released on 2014-06-26 with total page 205 pages. Available in PDF, EPUB and Kindle. Book excerpt: This special volume of Progress in Molecular Biology and Translational Science focuses on telomeres in health and disease. This volume covers a variety of topics with reviews written by experts in the field. Contributions from specialists in telomere diseases Informs and updates on how telomere dysfunction may cause disease in humans
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 2010-11-25 with total page 0 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 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 Ubiquitination Governing DNA Repair by : Effrossyni Boutou
Download or read book Ubiquitination Governing DNA Repair written by Effrossyni Boutou and published by . This book was released on 2018 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
