Associated Papers
Critical role of cell competition in gliomagenesis.
Jiang Y et al.
Biorxiv : the Preprint Server for Biology, 2026
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.
Xu L et al.
Protein Science : a Publication of the Protein Society, 2025
Loss of Schwann cell's normal rhythmic core clock gene expression and gain of rhythmic expression of oncogenic driver genes in malignant NF1-associated peripheral nerve sheath tumor.
Leisz S et al.
Molecular & Cellular Oncology, 2025
Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.
Nokchan N et al.
Journal of Personalized Medicine, 2024
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.
Botero V et al.
Journal of Neurodevelopmental Disorders, 2024
Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice.
Pan Y et al.
Nature Neuroscience, 2024
The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.
Shirai Y et al.
Journal of Neuro-oncology, 2024
Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants
Gjorgjievska M et al.
Balkan Medical Journal, 2023
GAP positions catalytic H-Ras residue Q61 for GTP hydrolysis in molecular dynamics simulations, complicating chemical rescue of Ras deactivation.
Patel LA et al.
Computational Biology and Chemistry, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1.
Anastasaki C et al.
Nature Communications, 2022
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Long A et al.
Human Mutation, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
N Abdel-Aziz N et al.
Molecular Genetics & Genomic Medicine, 2021
Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma.
Brossier NM et al.
Neuro-oncology, 2021
Merlin cooperates with neurofibromin and Spred1 to suppress the Ras-Erk pathway.
Cui Y et al.
Human Molecular Genetics, 2021
Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila.
King LB et al.
Plos Genetics, 2020
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M et al.
Human Mutation, 2020
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
Tritto V et al.
Genes, 2019
Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.
Agrahari AK et al.
Metabolic Brain Disease, 2018
Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.
Wallis D et al.
Human Mutation, 2018
Synergy between loss of NF1 and overexpression of MYCN in neuroblastoma is mediated by the GAP-related domain.
He S et al.
Elife, 2016
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
Čizmárová M et al.
Annals of Human Genetics, 2016
Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos.
Yzaguirre AD et al.
Elife, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
Thomas L et al.
Human Mutation, 2012
Neurofibromin mediates FAK signaling in confining synapse growth at Drosophila neuromuscular junctions.
Tsai PI et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
Ribeiro MJ et al.
Investigative Ophthalmology & Visual Science, 2012
Drosophila modeling of heritable neurodevelopmental disorders.
Gatto CL et al.
Current Opinion in Neurobiology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation.
Ho IS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Neurofibromin-deficient Schwann cells have increased lysophosphatidic acid dependent survival and migration-implications for increased neurofibroma formation during pregnancy.
Nebesio TD et al.
Glia, 2007
Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons.
Walker JA et al.
Genes & Development, 2006
Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions.
Yang FC et al.
The Journal of Clinical Investigation, 2006
Nf1+/- mast cells induce neurofibroma like phenotypes through secreted TGF-beta signaling.
Yang FC et al.
Human Molecular Genetics, 2006
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
Jeong SY et al.
Journal of Korean Medical Science, 2006
Neurofibromin regulates neural stem cell proliferation, survival, and astroglial differentiation in vitro and in vivo.
Dasgupta B et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Loss of the nf1 tumor suppressor gene decreases fas antigen expression in myeloid cells.
Hiatt K et al.
The American Journal of Pathology, 2004
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks C et al.
Journal of Medical Genetics, 2004
Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells.
Yang FC et al.
The Journal of Clinical Investigation, 2003
Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP.
Ahmadian MR et al.
Journal of Molecular Biology, 2003
Neurofibromin GTPase-activating protein-related domains restore normal growth in Nf1-/- cells.
Hiatt KK et al.
The Journal of Biological Chemistry, 2001