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Polymorphism in the neurofibromin gene, Nf1, is associated with antagonistic selection on wing size and development time in Drosophila melanogaster.
The N-terminal region of NF1 mediates the interaction with Fak56 and is required for the signaling activity and presynaptic localization of NF1
These results identify dAlk as an upstream activator of dNf1-regulated Ras signaling responsible for several dNf1 defects, and they implicate human Alk (show ALK ELISA Kits) as a potential therapeutic target in NF1
memory-related functions of Rut (show ADCY5 ELISA Kits)-AC are both Nf1-dependent and -independent, that Nf1 mediates the formation of two distinct memory components within a single neuron population.
survival of a subset of midline glia cells depends upon direct suppression of the proapoptotic protein HID via the EGF receptor (show EGFR ELISA Kits)/RAS/MAPK (show MAPK1 ELISA Kits) pathway
role in insulin (show INS ELISA Kits)-mediated proliferation of Schneider cells
preliminary crystallographic characterization of a novel segment (homologous to the yeast Sec14p lipid exchange protein) from the neurofibromatosis type 1 protein
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras
Loss of NF1 can give rise to non-cell-autonomous developmental defects, implicate aberrant Ras-mediated signaling in larval neurons as the primary cause of the NF1 growth deficiency.
Neurofibromin regulates longevity and stress resistance through cAMP regulation of mitochondrial respiration and ROS (show ROS1 ELISA Kits) production, and NF1 may be treatable using catalytic antioxidants.
DNA variants in the NF1 gene are associated with genetic disposition to bovine spongiform encephalopathy.
The authors demonstrate in zebrafish that nf1 loss leads to aberrant activation of RAS (show RAB1A ELISA Kits) signaling in MYCN (show MYCN ELISA Kits)-induced neuroblastomas that arise in these precursors, and that the GTPase-activating protein (GAP)-related domain (GRD) is sufficient to suppress the acceleration of neuroblastoma (show ARHGEF16 ELISA Kits) in nf1-deficient fish, but not the hypertrophy of sympathoadrenal cells in nf1 mutant embryos.
study shows negative regulation of Ras (show RAB1A ELISA Kits) pathway through GAP activity of NF1 limits oligodendrocyte progenitor cell (OPC) proliferation and motility during development; provides insight into oncogenic mechanisms by which NF1 loss contributes to glial tumors
identification and characterization of nf1a and nf1b, orthologues of NF1, that show neural crest and cardiovascular defects resulting from morpholino knockdown, including vascular and cardiac valvular abnormalities
NF1 germline mutation is associated with optic gliomas.
Notch (show NOTCH1 ELISA Kits) is an Nf1 effector.
Spatially- and temporally-controlled postnatal p53 (show TP53 ELISA Kits) knockdown cooperates with embryonic Schwann cell precursor Nf1 gene loss to promote malignant peripheral nerve sheath tumor formation.
These findings demonstrate a role for Ras-GAP (show RASA1 ELISA Kits) activity in suppressing the hemogenic potential of the heart and restricting growth of neural crest-derived tissues.
identified p21Ras-dependent hyperphosphorylation of Pu.1 within the nucleus of Nf1 haploinsufficient myelomonocytic osteoclast precursors, providing a novel therapeutic target for the potential treatment of NF1 associated osteolytic manifestations.
Targeted gene deletion of TP53 (show TP53 ELISA Kits), Pten, and NF1 in mouse brain causes glioblastoma.
Data indicated a critical role for Nf1 in regulating multiple mesenchymal stem/progenitor cells functions, including migration and adhesion through both the PI3-K (show PIK3CA ELISA Kits) and MAPK (show MAPK1 ELISA Kits) pathways.
this is the first demonstration that different germline NF1 gene mutations differentially dictate neurofibromin function in the brain.
Data suggest that bi-allelic loss of Nf1 induces autonomous adrenal hyper-activity. Nf1 seems involved in the regulation of adrenal cortex function in mice and humans.
FGFR1 (show FGFR1 ELISA Kits) signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP (show RASA1 ELISA Kits) neurofibromin during endochondral bone formation
the NF1-mutated subtype of melanoma had a higher mutational burden and strongest ultraviolet rays mutation signature.
A revised exon nomenclature system for NF1 is proposed based on the CDS (show CDS1 ELISA Kits) coordinates of NM_000267.3ENST00000356175.7. This nomenclature differs from one in active use in the clinical community and represented on the Locus Reference Genomic sequence LRG_214/NG_009018.1.
Comprehensive genetic analysis reveals the primacy of NF1 loss as the driver of PN tumorigenesis.
In a coclinical trial to examine how the tumor microenvironment influences the response to multiagent chemotherapy, we found that stromal Nf1 status had no effect.
Loss of NF1 is associated with pathogenesis of malignant peripheral nerve sheath tumor.
Low NF1 expression is associated with Triple-Negative Breast Cancer.
Molecular characterization reveals NF1 deletions and FGFR1 (show FGFR1 ELISA Kits)-activating mutations in a pediatric spinal oligodendroglioma
Report incidence of NF1 mutations/allelic loss in desmoplastic melanoma and suggest that the DM subtypes have distinct genetic drivers.
The EVH1 domain of Spred1 (show SPRED1 ELISA Kits) binds to the noncatalytic portion of the GAP-related domain of neurofibromin.
Loss of NF1 gene is associated with malignant peripheral nerve sheath tumors.
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
, neurofibromatosis 1
, neurofibromatosis factor 1
, neurofibromatosis type 1
, neurofibromin 1
, neurofibromatosis-related protein NF-1
, Neurofibromatosis type 1