LIMITED OFFER
Save 50% on book bundles
Immediately download your ebook while waiting for your print delivery. No promo code needed.
Neurofibromatosis Type I
- 1st Edition
- Editors: M. Upadhyaya, Dermot M.F. Cooper
- Language: English
Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders. Affecting 1 in 4000 individuals worldwide. Symptoms include facial and body… Read more
Purchase options
Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders. Affecting 1 in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems.
This book is written for a broad readership ranging from students to professionals. It provides the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counsellors, general practitioners and research students.
The volume attempts to cover clinical aspects of the disease; gene structure, expression and mutation; structural and functional aspects of the encoded protein, neurofibromin; the role of the NF1gene as a tumour suppressor, the emerging genotype-phenotype relationship for NF1, animal models of the disease and future prospects for disease treatment and prevention.
This book is written for a broad readership ranging from students to professionals. It provides the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counsellors, general practitioners and research students.
The volume attempts to cover clinical aspects of the disease; gene structure, expression and mutation; structural and functional aspects of the encoded protein, neurofibromin; the role of the NF1gene as a tumour suppressor, the emerging genotype-phenotype relationship for NF1, animal models of the disease and future prospects for disease treatment and prevention.
Contributors.
Abbreviations.
Preface.
Acknowledgements.
Foreword.
Neurofibromatosis Type 1: Historical Perspective and Introductory Overview, S.M. Huson.
Clinical Aspects of Neurofibromatosis, R.E. Ferner.
Gene Structure and Expression, D.H. Viskochil.
The NF1 Genetic Analysis Consortium, B.R. Korf.
The Mutational Spectrum in Neurofibromatosis 1 and its Underlying Mechanisms, M. Upadhyaya and D.N. Cooper.
Neurofibromatosis 1 GTPase Activating Protein-Related Domain and its Functional Significance.
M.R. Kim, and F. Tamanoi.
Neurofibromin: Distribution, Cell Biology and Role in Neurofibromatosis Type 1, L. Sherman, M.M. Daston, and N. Ratner.
The NF1 Gene as a Tumour Suppressor, L.E. Side and K.M. Shannon.
Somatic Mutations of the NF1 Gene in Type 1 Neurofibromatosis and Cancer, S.A. Rasmussen and M.R. Wallace.
Genotype-Phenotype Relationships in Neurofibromatosis Type 1, D.F. Easton.
Evolutionary Comparisons, A. Bernards.
Animal Models of Neurofibromatosis Type 1, K. Cichowski and T. Facks.
Modelling the Cognitive Impairments Associated with Neurofibromatosis 1, A.J. Silva, P.W. Frankland, J.H. Kogan, E. Friedman, and N.B. Fedorov.
Neurofibromatosis 1: Progress and Future Directions, D.H. Gutmann.
Index.
Abbreviations.
Preface.
Acknowledgements.
Foreword.
Neurofibromatosis Type 1: Historical Perspective and Introductory Overview, S.M. Huson.
Clinical Aspects of Neurofibromatosis, R.E. Ferner.
Gene Structure and Expression, D.H. Viskochil.
The NF1 Genetic Analysis Consortium, B.R. Korf.
The Mutational Spectrum in Neurofibromatosis 1 and its Underlying Mechanisms, M. Upadhyaya and D.N. Cooper.
Neurofibromatosis 1 GTPase Activating Protein-Related Domain and its Functional Significance.
M.R. Kim, and F. Tamanoi.
Neurofibromin: Distribution, Cell Biology and Role in Neurofibromatosis Type 1, L. Sherman, M.M. Daston, and N. Ratner.
The NF1 Gene as a Tumour Suppressor, L.E. Side and K.M. Shannon.
Somatic Mutations of the NF1 Gene in Type 1 Neurofibromatosis and Cancer, S.A. Rasmussen and M.R. Wallace.
Genotype-Phenotype Relationships in Neurofibromatosis Type 1, D.F. Easton.
Evolutionary Comparisons, A. Bernards.
Animal Models of Neurofibromatosis Type 1, K. Cichowski and T. Facks.
Modelling the Cognitive Impairments Associated with Neurofibromatosis 1, A.J. Silva, P.W. Frankland, J.H. Kogan, E. Friedman, and N.B. Fedorov.
Neurofibromatosis 1: Progress and Future Directions, D.H. Gutmann.
Index.
- Language: English
- Edition: 1
- Published:
- Imprint: Academic Press
MU
M. Upadhyaya
Affiliations and expertise
University of Wales College of Medicine, Cardiff, U.K.DC
Dermot M.F. Cooper
Affiliations and expertise
University of Colorado Health Sciences Center, Denver, Colorado, USA