Neurofibromatosis type 1 I. General overview
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- Type
- review
- Published
- 2000-12-15
- Cited by
- 54
- References
- 142
- OpenAlex
- https://openalex.org/W1964175333
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:34870127
Keywords
Type (biology), Neurofibromatosis, Genetics, Biology, Paleontology
References
- Expression of the neurofibromatosis type 1 (NF1) gene during mouse embryonic development.
- Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene
- Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients
- Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.
- A clinical, pathological, and genetic study of multiple neurofibromatosis
- Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.
- Inhibition of angiogenesis by blocking activation of the vascular endothelial growth factor receptor 2 leads to decreased growth of neurogenic sarcomas.
- Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
- An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.
- The GTPase-activating NF1 fragment of 91 amino acids reverses v-Ha-Ras-induced malignant phenotype.
- Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.
- A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors.
- Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons
- The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene
- Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function
- Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features
- A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity
- Neurofibromatosis and childhood tumors
- The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes.
- Aberrant cutaneous expression of the angiogenic factor midkine is associated with neurofibromatosis type-1.
Cited by
- The role of PAK1 in the cellular and molecular components of plexiform neurofibromas
- The Epidemiology, Biology and Genetics of Human Astrocytic Tumours
- Totally Laparoscopic Gastrectomy for Gastric Cancer Associated with Recklinghausen's Disease
- Genetics of Neurofibromatosis 1-Associated Peripheral Nerve Sheath Tumors
- Skin-Derived Precursor Cells as an In Vitro Modelling Tool for the Study of Type 1 Neurofibromatosis
- Correction of intraoperative coagulopathy in a patient with neurofibromatosis type I with intravenous desmopressin (DDAVP).
- Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing
- EVI2B, a Gene Lying in an Intron of the Neurofibromatosis Type 1 (NF1) Gene, Is As the NF1 Gene Involved in Differentiation of Melanocytes and Keratinocytes and Is Overexpressed in Cells Derived from NF1 Neurofibromas
- Spinal Cord Ependymoma Associated with Neurofibromatosis 1 : Case Report and Review of the Literature
- Clinical features and pedigree report of a patient with giant neurofibroma
- Pigment cell-related manifestations in neurofibromatosis type 1: an overview.
- The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder
- Giant neurofibroma in the right lower limb of a 26-year-old woman: report of a case.
- Heat Hyperalgesia and Mechanical Hypersensitivity Induced by Calcitonin Gene-Related Peptide in a Mouse Model of Neurofibromatosis
- Cutaneous melanoma susceptibility and progression genes.
- Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas
- Malignant Uveal Schwannoma With Peripheral Nerve Extension in a 12-Week-Old Color-Dilute Labrador Retriever
- Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological study.
- Overactivation of Ras signaling pathway in CD133+ MPNST cells
- Neurofibromatosis—Noonan's Syndrome With Associated Rhabdomyosarcoma of the Urinary Bladder in an Infant: Case Report
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