Neurofibromatosis Type 1: Molecular and Cellular BiologyMeena Upadhyaya, David N Cooper Springer Science & Business Media, 29 հնվ, 2013 թ. - 717 էջ 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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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 |
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