rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    non sort: The
    title: molecular biology of neurofibromatosis, type 1
  name:
    name part: Upadhyaya, M. (Meena)
    role:
      role term: creator
    role:
      role term: author.
  type of resource: text
  genre: abstract or summary
  genre: Electronic books.
  origin info:
    place:
      place term: cau
    date issued: 2014
    issuance: monographic
  language:
    language term: eng
  physical description:
    reformatting quality: access
    form: remote
    extent: 1 online resource (x, 69 pages) : illustrations.
  abstract: 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 features 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 develop…
  table of contents: 1. Introduction to NF1 -- 1.1 Diagnostic criteria of NF1 -- 1.2 The NF1 gene -- 1.2.1 Neurofibromin: the NF1 gene product -- 1.2.2 Mutation analysis of the NF1 gene -- 1.2.3 Molecular diagnosis -- 1.2.4 Segmental neurofibromatosis (SNF) -- 1.2.5 NF1-like features associated with deficiency of DNA mismatch repair genes -- 1.3 Genotype-phenotype studies -- 1.3.1 Modifying genes in NF1 -- 1.3.2 Bone abnormalities -- 1.3.3 Vascular abnormalities --
  table of contents: 2. NF1-associated tumours -- 2.1 Cutaneous neurofibromas -- 2.2 Plexiform neurofibromas -- 2.3 Malignant peripheral nerve sheath tumours (MPNSTs) -- 2.4 Spinal neurofibromas -- 2.5 Low-grade pilocytic astrocytomas -- 2.6 Gastrointestinal stromal tumours (GISTs) -- 2.7 Gastric carcinoid -- 2.8 Juvenile myelomonocytic leukaemia (JMML) -- 2.9 Neuroblastomas -- 2.10 Pheochromocytomas -- 2.11 Glomus tumours -- 2.12 Rhabdomyosarcoma -- 2.13 Breast cancer --
  table of contents: 3. Animal models, preclinical and clinical trials -- 3.14 Animal NF1 models -- 3.15 Preclinical and clinical trials and potential NF1 therapies -- 3.16 MPNST -- 3.17 Plexiform neurofibroma -- 3.18 Optical pathway gliomas -- 3.19 Learning deficits -- 3.20 Skeletal abnormalities -- 3.21 NF1 bone abnormality consortium --
  table of contents: 4. Summary and conclusion -- References -- Titles of related interest -- Series of related interest.
  target audience: specialized
  note: Meena Upadhyaya.
  note: Part of: Colloquium digital library of life sciences.
  note: Series from website.
  note: Abstract freely available; full-text restricted to subscribers or individual document purchasers.
  note: Google book search
  note: Google scholar
  note: Also available in print.
  note: Mode of access: World Wide Web.
  note: System requirements: Adobe Acrobat reader.
  note: Includes bibliographical references (pages 35-55).
  subject:
    topic: Neurofibromatosis
  subject:
    topic: Neurofibromatoses
  subject:
    topic: Diagnosis
  subject:
    topic: Gene
  subject:
    topic: Mutations
  subject:
    topic: NF1
  subject:
    topic: animal models
  subject:
    topic: genotype-phenotype correlations
  subject:
    topic: neurofibromas
  subject:
    topic: neurofibromin
  subject:
    topic: preclinical and clinical trials
  subject:
    topic: segmental NF1
  subject:
    topic: tumours
  classification: RC280.N4 U624 2014
  classification: 616.99383
  classification: QZ 380 U624m 2014
  related item:
    note: Google book search
  related item:
    note: Google scholar
  related item:
    title info:
      title: Colloquium digital library of life sciences
  related item:
    title info:
      title: Colloquium series on genomic and molecular medicine ; # 5
  identifier: 9781615046454
  identifier: 9781615046447
  identifier: http://proxy.library.tamu.edu/login
  access condition: Abstract freely available; full-text restricted to subscribers or individual document purchasers.
  record info:
    record content source: CaBNVSL
    record creation date: 140315
    record change date: 20210728125134.0
    record identifier: in00003651015
    language of cataloging:
      language term: eng