Neurofibromatosis Type 1: Molecular and Cellular Biology

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Meena Upadhyaya, David N Cooper
Springer Science & Business Media, Jan 29, 2013 - Medical - 717 pages
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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.

 

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Contents

von Recklinghausen Disease 130 Years
1
Clinical Diagnosis and Atypical Forms of NF1
17
Management and Treatment of Complex Neurofibromatosis 1
31
Mortality in Neurofibromatosis 1
47
The Cognitive Profile of NF1 Children Therapeutic Implications
55
Clinical Expression of NF1 in Monozygotic Twins
71
Value of Whole Body MRI in Patients with NF1
83
Quality of Life in NF1
93
Molecular Basis of Glomus Tumours
367
Pheochromocytoma and NF1
381
Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development
393
Somatic Copy Number Alterations Gene and Protein Expression Correlates in NF1Associated Malignant Peripheral Nerve Sheath Tumors
405
Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1
429
Malignant Peripheral Nerve Sheath Tumors Prognostic and Diagnostic Markers and Therapeutic Targets
445
NF1 Mutations in Hematologic Cancers
469
Legius Syndrome Diagnosis and Pathology
487

NF1 Gene Promoter 5 UTR and 3 UTR
105
The Germline Mutational Spectrum in Neurofibromatosis Type 1 and GenotypePhenotype Correlations
115
Splicing Mechanisms and Mutations in the NF1 Gene
135
NF1 Germline and Somatic Mosaicism
151
Deep Intronic NF1 Mutations and Possible Therapeutic Interventions
173
NF1 Microdeletions and Their Underlying Mutational Mechanisms
187
The Somatic Mutational Spectrum of the NF1 Gene
211
Relationship Between NF1 and Constitutive Mismatch Repair Deficiency
235
Insights into NF1 from Evolution
253
Modifier Genes in NF1
269
Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models
287
Neurofibromin Protein Domains and Functional Characteristics
305
Molecular Basis of Bone Abnormalities in NF1
327
NF1Associated Optic Glioma
341
Molecular Basis of Cardiovascular Abnormalities in NF1
353
The RASopathies Syndromes of RasMAPK Pathway Dysregulation
497
Advances in NF1 Animal Models and Lessons Learned
513
Drosophila An Invertebrate Model of NF1
523
Zebrafish Model for NF1
535
Cell of Origin and the Contribution of Microenvironment in NF1 Tumorigenesis and Therapeutic Implications
549
Molecular and Cellular Approaches to Cognitive Impairments Associated with NF1 and Other Rasopathies
569
Ras Signaling Pathway in Biology and Therapy of Malignant Peripheral Nerve Sheath Tumors
589
MicroRNA and NF1 Tumorigenesis
611
TranslationalClinical Studies in Children and Adults with Neurofibromatosis Type 1
625
The Role of NF1 Lay Foundations Future Vision
659
Social Stigma in Neurofibromatosis 1
673
Personalized Medicine in NF1
683
Neurofibromatosis Type 1 Future Directions Where Do We Go from Here?
691
Index
699
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