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Title Neurofibromatosis Type 1 : molecular and cellular biology / Meena Upadhyaya, David N. Cooper, editors
Published Berlin ; New York : Springer, [2012]
©2012
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Description 1 online resource
Contents von Recklinghausen Disease: 130 Years / Vincent M. Riccardi -- Clinical Diagnosis and Atypical Forms of NF1 / Sirkku Peltonen, Minna Pöyhönen -- Management and Treatment of "Complex Neurofibromatosis 1" / Rosalie E. Ferner, Susan M. Huson -- Mortality in Neurofibromatosis 1 / Gareth R. Evans -- The Cognitive Profile of NF1 Children: Therapeutic Implications / Natalie A. Pride, Kathryn N. North -- Clinical Expression of NF1 in Monozygotic Twins / Elizabeth K. Schorry, Emily Sites -- Value of Whole Body MRI in Patients with NF1 / Victor-Felix Mautner -- Quality of Life in NF1 / Patricia Birch, J.M. Friedman -- NF1 Gene: Promoter, 5' UTR, and 3' UTR / Hua Li, Margaret R. Wallace -- The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype-Phenotype Correlations / David N. Cooper, Meena Upadhyaya -- Splicing Mechanisms and Mutations in the NF1 Gene / Marco Baralle, Diana Baralle -- NF1 Germline and Somatic Mosaicism / Ludwine Messiaen, Jing Xie
Deep Intronic NF1 Mutations and Possible Therapeutic Interventions / Conxi Lázaro, Juana Fernández-Rodríguez, Eduard Serra -- NF1 Microdeletions and Their Underlying Mutational Mechanisms / Hildegard Kehrer-Sawatzki, David N. Cooper -- The Somatic Mutational Spectrum of the NF1 Gene / Meena Upadhyaya, Nadia Chuzhanova, David N. Cooper -- Relationship Between NF1 and Constitutive Mismatch Repair Deficiency / Katharina Wimmer -- Insights into NF1 from Evolution / Britta Bartelt-Kirbach, Dieter Kaufmann -- Modifier Genes in NF1 / Eric Pasmant, Dominique Vidaud, Pierre Wolkenstein -- Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models / Georgette N. Jones, Karlyne M. Reilly -- Neurofibromin: Protein Domains and Functional Characteristics / Klaus Scheffzek, Stefan Welti -- Molecular Basis of Bone Abnormalities in NF1 / David A. Stevenson, Florent Elefteriou -- NF1-Associated Optic Glioma / Anne C. Solga, David H. Gutmann -- Molecular Basis of Cardiovascular Abnormalities in NF1 / Brian K. Stansfield, David A. Ingram, Simon J. Conway
Molecular Basis of Glomus Tumours / Hilde Brems, Eric Legius, Douglas R. Stewart -- Pheochromocytoma and NF1 / Birke Bausch, Hartmut P.H. Neumann -- Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development / Juha Peltonen, Eeva-Mari Jouhilahti, Sirkku Peltonen -- Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors / Meena Upadhyaya, David N. Cooper -- Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1 / Anat Stemmer-Rachamimov, G. Petur Nielsen -- Malignant Peripheral Nerve Sheath Tumors: Prognostic and Diagnostic Markers and Therapeutic Targets / Holly Meany, Brigitte C. Widemann, Nancy Ratner -- NF1 Mutations in Hematologic Cancers / Tiffany Chang, Kevin Shannon -- Legius Syndrome: Diagnosis and Pathology / Hilde Brems, Ludwine Messiaen, Eric Legius -- The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation / William E. Tidyman, Katherine A. Rauen -- Advances in NF1 Animal Models and Lessons Learned / Ophélia Maertens, Karen Cichowski
Drosophila: An Invertebrate Model of NF1 / James A. Walker, Jean Y. Gouzi, André Bernards -- Zebrafish Model for NF1 / Arun Padmanabhan, Jonathan A. Epstein -- Cell of Origin and the Contribution of Microenvironment in NF1 Tumorigenesis and Therapeutic Implications / Johanna Buchstaller, D. Wade Clapp, Luis F. Parada, Yuan Zhu -- Molecular and Cellular Approaches to Cognitive Impairments Associated with NF1 and Other Rasopathies / Yong-Seok Lee, Alcino J. Silva -- Ras Signaling Pathway in Biology and Therapy of Malignant Peripheral Nerve Sheath Tumors / Faris Farassati -- MicroRNA and NF1 Tumorigenesis / Adrienne M. Flanagan, Nadège Presneau -- Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type 1 / Bruce Korf, Brigitte Widemann, Maria T. Acosta, Roger J. Packer -- The Role of NF1 Lay Foundations: Future Vision / Kim Hunter-Schaedle -- Social Stigma in Neurofibromatosis 1 / Joan Ablon -- Personalized Medicine in NF1 / David Viskochil -- Neurofibromatosis Type 1: Future Directions (Where Do We Go from Here?) / Luis F. Parada
Summary 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: Molecular and Cellular Biology will be of great value to medical geneticists, molecular and cellular biologists, oncologists, dermatologists, neurologists, genetic counsellors and general practitioners alike
Analysis Medicine
Human genetics
Neurosciences
Biomedicine
Cancer Research
Molecular Medicine
Bibliography Includes bibliographical references and index
Notes English
Subject Neurofibromatosis.
Neurofibromatosis 1.
Form Electronic book
Author Upadhyaya, M. (Meena)
Cooper, David N. (David Neil), 1957-
LC no. 2012954937
ISBN 9783642328640 (electronic bk.)
3642328644 (electronic bk.)
9783642328633
3642328636