The Molecular Biology Of Neurofibromatosis Type 1
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The Molecular Biology Of Neurofibromatosis Type 1
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Author : Meena Upadhyaya
language : en
Publisher: Biota Publishing
Release Date : 2014-02-01
The Molecular Biology Of Neurofibromatosis Type 1 written by Meena Upadhyaya and has been published by Biota Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-02-01 with Science categories.
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.
Neurofibromatosis Type 1
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Author : Meena Upadhyaya
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-01-29
Neurofibromatosis Type 1 written by Meena Upadhyaya and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-01-29 with Medical categories.
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Neurofibromatosis Type 1
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Author : Richard G. Morgan
language : en
Publisher: Nova Science Publishers
Release Date : 2021
Neurofibromatosis Type 1 written by Richard G. Morgan and has been published by Nova Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with Neurofibromatosis categories.
"This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterized by changes in skin coloring and the growth of tumors along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal stromal tumors and reviews the clinicopathologic features of these tumors and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukemia, a rare hematological malignancy of the pediatric population, and its association with NF1 and distinguishing features in this context. Chapter Four reviews molecular approaches for the diagnosis of NF1, from single-gene testing to next-generation sequencing of gene panels, with a focus on the issues of sensitivity and variant interpretations. Finally, Chapter Five focuses attention on focal cortical dysplasia that has been identified in the population of NF1 patients that have had coexistent hippocampal sclerosis"--
Neurofibromatosis Type 1
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Author : Meena Upadhyaya
language : en
Publisher: Garland Science
Release Date : 1998
Neurofibromatosis Type 1 written by Meena Upadhyaya and has been published by Garland Science this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998 with Medical categories.
Neurofibromatosis type 1 is a common inherited neurogenetic disorder affecting one in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation, and abnormalities of the cardiovascular, renal and endocrine systems. Beginning with an overview of what is known about the disease, this text goes on to provide information on developments and clinical implications.
Neurofibromatoses
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Author : Dieter Kaufmann
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2008
Neurofibromatoses written by Dieter Kaufmann and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Medical categories.
The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with.This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists.
Neurofibromatosis
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Author : Jan Marshall Friedman
language : en
Publisher:
Release Date : 1999
Neurofibromatosis written by Jan Marshall Friedman and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999 with Neurofibromatosis categories.
"Now in its third edition, Neurofibromatosis has been extensively rewritten by a group of leading neurofibromatosis (NF) researchers. It summarizes the current state of knowledge and details significant advances in the basic science and clinical care of patients with NF1 and NF2. Areas of particular emphasis include aspects of natural history, variability, pathology, molecular biology, and cellular biology that give a deeper understanding of the mechanisms responsible for these diseases. The book is a definitive, comprehensive review of the history, heterogeneity, pathogenesis, genetics, and management of NF1 and NF2"--Publisher description.
Molecular Genetics Of Type 1 Neurofibromatosis
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Author : Rina Wu
language : en
Publisher:
Release Date : 1996-10-01
Molecular Genetics Of Type 1 Neurofibromatosis written by Rina Wu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1996-10-01 with Neurofibromatosis categories.
Neurofibromatosis
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Author : Vincent M. Riccardi
language : en
Publisher:
Release Date : 1986
Neurofibromatosis written by Vincent M. Riccardi and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1986 with Medical categories.
A comprehensive review of the clinical and genetic aspects of a disease that affects over one million people worldwide, based on the cumulative experience of the longest continuously functioning program of its kind (Riccardi directs The Neurofibromatosis Institute, Pasadena, California--his vantage point is that of an accumulated 3,700 patient-years of direct observation and follow-up of patients with NF, and a total of 22,900 patient-years, counting from the time of birth until either death or January 1991). Thoroughly revised and updated (first edition, 1986) to include the latest advances in molecular biology and methods of treatment, and contains a glossary and extensive bibliography (well over 1,000 citations). Annotation copyrighted by Book News, Inc., Portland, OR
Peripheral Nerve Disorders
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Author : Rosalie E. Ferner
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-08-17
Peripheral Nerve Disorders written by Rosalie E. Ferner and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-08-17 with Medical categories.
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls cell growth and proliferation by regulating the proto-oncogene Ras and cyclic adenosine monophosphate (AMP). Advances in molecular biology and mouse models of disease have enhanced our understanding of the pathogenesis of NF1 complications and facilitated targeted therapy. Progress has been made in developing robust clinical and radiological outcome measures and clinical trials are underway for children with learning difficulties and for individuals with symptomatic plexiform neurofibromas.
Atlas Of Inherited Retinal Diseases
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Author : Stephen H. Tsang
language : en
Publisher: Springer
Release Date : 2018-12-21
Atlas Of Inherited Retinal Diseases written by Stephen H. Tsang and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-12-21 with Medical categories.
This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.