Neurofibromin 1
-
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.
- Evidence for and against regional differences in neural stem and progenitor cells of the CNS.
- 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.
- Mechanical stretch is a highly selective regulator of gene expression in human bladder smooth muscle cells.
- 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.
- Pharmacologically targeting beta-catenin for NF1 associated deficiencies in fracture repair.
- Role of TC21/R-Ras2 in enhanced migration of neurofibromin-deficient Schwann cells.
- 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.