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The genetic landscape and clinical implication of pediatric Moyamoya angiopathy…

Zanoni(P),Steindl(K),Sticht(H),Oneda(B),Jose… Eur J Hum Genet 2023-00-00

...NF1 patients had a similar infarct burden compared to non-NF1 individuals and were often diagnosed incidentally during r...

MEK Inhibition Synergizes with TYK2 Inhibitors in NF1-Associated Malignant Peri…

Borcherding(DC),Amin(NV),He(K),Zhang(X),Lyu(… Clin Cancer Res 2023-00-14

...NF1) cancer predisposition syndrome. Overexpression of TYK2 occurs in the majority of MPNST, implicating TYK2 as a thera...

A Targeted, Low-Throughput Compound Screen in a Drosophila Model of Neurofibrom…

Dyson(A),Ryan(M),Garg(S),Evans(DG),Baines(RA) eNeuro 2023-00-00

...Nf1 expression within the embryo is sufficient to impair NMJ synaptic transmission in the larva, constitutive Nf1 knock-...

Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of Neu…

Jousma(Edwin),Rizvi(Tilat A),Wu(Jianqiang),J… Pediatr Blood Cancer 2015-11-02

Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes affected individuals to formation of benign neurof...

Characterization of NF1 frameshift mutations in pediatric patients with neurofi…

Villa-Morales(J),López-Muñoz(E),Juárez-Melch… Genet Mol Res 2016-06-02

...NF1). These occur throughout the length of the gene, with no apparent hotspots. Even though some mutations have been fou...

Nerve Sheath Tumors in Neurofibromatosis Type 1: Assessment of Whole-Body Metab…

Salamon(Johannes),Papp(László),Tóth(Zoltán),… PLoS One 2016-06-23

...NF1) using a three-dimensional (3D) segmentation and computerized volumetry technique, and to compare PET WB-MTV between...

Landscape of mutations in early stage primary cutaneous melanoma: An InterMEL s…

Luo(L),Shen(R),Arora(A),Orlow(I),Busam(KJ),L… Pigment Cell Melanoma Res 2022-00-00

...NF1; 26% Triple Wild Type. BRAF mutant tumors had younger age at diagnosis, more associated nevi, more tumor infiltratin...

Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibro…

Plotkin(Scott R),Davis(Stephanie D),Robertso… Neurology 0000-00-00

...NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically important. Because improveme...

Tumor segmentation of whole-body magnetic resonance imaging in neurofibromatosi…

Heffler(Michael A),Le(Lu Q),Xi(Yin),Chhabra(… Skeletal Radiol 0000-00-00

...NF1) and examine associations with demographic, disease-related and anthropomorphic features.,A consecutive series of pa...

MEK Inhibitors Lead to PDGFR Pathway Upregulation and Sensitize Tumors to RAF D…

Miranda-Román(MA),Lee(CJ),Fishinevich(E),Ran… Clin Cancer Res 2024-11-15

...NF1 leads to sustained RAF/MEK/ERK signaling in MPNST. However, single-agent MEK inhibitors (MEKi) have failed to elicit...

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