Neurofibromin 1

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  Subject Areas on Research

  • A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. 
  • Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. 
  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways. 
  • Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights. 
  • Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. 
  • Genomic Status of MET Potentiates Sensitivity to MET and MEK Inhibition in NF1-Related Malignant Peripheral Nerve Sheath Tumors. 
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 
  • Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 
  • Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications. 
  • NF1 deletion generates multiple subtypes of soft-tissue sarcoma that respond to MEK inhibition. 
  • Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. 
  • Pathogenic mutations in neurofibromin identifies a leucine-rich domain regulating glioma cell invasiveness. 
  • Pharmacologically targeting beta-catenin for NF1 associated deficiencies in fracture repair. 
  • Somatic inactivation of Nf1 in hematopoietic cells results in a progressive myeloproliferative disorder. 
  • The NF1 gene revisited - from bench to bedside. 
  • The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. 
  • The kelch proteins Gpb1 and Gpb2 inhibit Ras activity via association with the yeast RasGAP neurofibromin homologs Ira1 and Ira2. 
  • Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
  • cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.