Results 21 to 30 of about 25,034,870 (238)

Neurofibromatosis type 1, from gene mutation to clinical presentation [PDF]

Rwanda Medical Journal, 2023
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any ...
N. Dukuze, P. Sesonga, B. Iradukunada, H. Irere, J. Ndinkabandi, C. Nsanzabaganwa, F. Rutarama, C. Kagimbana, A. Uwineza, L. Mutesa   +9 more
doaj   +2 more sources

The Molecular Mechanism and Therapeutic Progress in Glomus Tumor. [PDF]

Cancer Med
ABSTRACT Background Glomus tumor (GT) is a rare mesenchymal neoplasm presumed to originate from the neuromyoarterial glomus body. Its pathogenesis is complex and involves alterations in multiple genes and signaling pathways. In the era of precision medicine, increased molecular research has begun to elucidate the oncogenic drivers of GT, offering novel
Jiang ZC, Cheng ZJ, Xiao JX, Huang YQ, Ke Z, Xu JH, Fu XK, Huang H.   +7 more
europepmc   +2 more sources

Merlin deficiency alters the redox management program in breast cancer

Molecular Oncology, 2021
The expression of Merlin tumor suppressor protein encoded by Neurofibromin 2 (NF2) gene is remarkably decreased in metastatic breast cancer tissues.
Mateus Mota, Brandon J. Metge, Dominique C. Hinshaw, Heba A. Alsheikh, Dongquan Chen, Rajeev S. Samant, Lalita A. Shevde   +6 more
doaj   +1 more source

Hippocampal Dysregulation of Neurofibromin-Dependent Pathways Is Associated with Impaired Spatial Learning in Engrailed 2 Knock-Out Mice [PDF]

The Journal of Neuroscience, 2014
Genome-wide association studies indicated the homeobox-containing transcription factor Engrailed-2 (En2) as a candidate gene for autism spectrum disorders (ASD). Accordingly,En2knock-out (En2−/−) mice show anatomical and behavioral “ASD-like” features, including decreased sociability and learning deficits.
Provenzano, Giovanni, Pangrazzi, Luca, Poli, Andrea, Pernigo, Mattia, Sgadò, Paola, Genovesi, Sacha, Zunino, Giulia, Berardi, Nicoletta, Casarosa, Simona, Bozzi, Yuri   +9 more
openaire   +6 more sources

Transposon delivery for CRISPR-based loss-of-function screen in mice identifies NF2 as a cooperating gene involved with the canonical WNT signaling molecular class of hepatocellular carcinoma

Heliyon, 2023
Various molecular subclasses of hepatocellular carcinoma (HCC) exists, with many novel cooperating oncogenes and tumor suppressor genes involved in its tumorigenesis. The emerging importance of WNT signaling in HCC has been established.
Vincent W. Keng, Amy P. Chiu, Jeffrey C. To, Xiao-Xiao Li, Michael A. Linden, Khalid Amin, Branden S. Moriarity, Kosuke Yusa   +7 more
doaj   +1 more source

Neuroretinal dysfunction in patients affected by neurofibromatosis type 1 [PDF]

International Journal of Ophthalmology, 2022
AIM: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs).
Antonietta Moramarco, Luca Lucchino, Fabiana Mallone, Michela Marcelli, Ludovico Alisi, Vincenzo Roberti, Sandra Giustini, Alessandro Lambiase, Marcella Nebbioso   +8 more
doaj   +1 more source

Absence of Neurofibromin Induces an Oncogenic Metabolic Switch via Mitochondrial ERK-Mediated Phosphorylation of the Chaperone TRAP1

Cell Reports, 2017
Mutations in neurofibromin, a Ras GTPase-activating protein, lead to the tumor predisposition syndrome neurofibromatosis type 1. Here, we report that cells lacking neurofibromin exhibit enhanced glycolysis and decreased respiration in a Ras/ERK-dependent
Ionica Masgras, Francesco Ciscato, Anna Maria Brunati, Elena Tibaldi, Stefano Indraccolo, Matteo Curtarello, Federica Chiara, Giuseppe Cannino, Elena Papaleo, Matteo Lambrughi, Giulia Guzzo, Alberto Gambalunga, Marco Pizzi, Vincenza Guzzardo, Massimo Rugge, Stefania Edith Vuljan, Fiorella Calabrese, Paolo Bernardi, Andrea Rasola   +18 more
doaj   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep, Pieper, Russell O, Wood, Matthew D   +2 more
core   +3 more sources

Syndecan-2 induces filopodia and dendritic spine formation via the neurofibromin–PKA–Ena/VASP pathway [PDF]

The Journal of Cell Biology, 2007
Syndecan-2 induced filopodia before spinogenesis; therefore, filopodia formation was used here as a model to study the early downstream signaling of syndecan-2 that leads to spinogenesis. Screening using kinase inhibitors indicated that protein kinase A (PKA) is required for syndecan-2–induced filopodia formation in both human embryonic kidney cells ...
Lin, Yi-Ling, Lei, Ya-Ting, Hong, Chen-Jei, Hsueh, Yi-Ping   +3 more
openaire   +2 more sources

A conserved circadian function for the Neurofibromatosis 1 gene [PDF]

, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei, Cavanaugh, Daniel, Gutmann, David H, Haynes, Paula, Hsu, Cynthia T, Lee, Yool, Sehgal, Amita, Stein, Carly, Wang, Han, Williams, Julie A, Zheng, Xiangzhong   +10 more
core   +3 more sources