Results 11 to 20 of about 24,084 (164)

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling. [PDF]

PLoS Genetics
Neurofibromatosis type 1 results from mutations in the NF1 gene and its encoded neurofibromin protein. This condition produces multiple symptoms, including tumors, behavioral alterations, and metabolic changes. Molecularly, neurofibromin mutations affect
Valentina Botero, Jenifer Barrios, Anneke Knauss, Greta Dahlen, Ethan Rosendahl, Kenneth J Colodner, Seth M Tomchik   +6 more
doaj   +3 more sources

Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report [PDF]

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects multiple organ systems, most commonly the skin, peripheral nerves, and skeletal system. However, involvement of the anterior mediastinum is rare and has been sporadically reported in the literature.
Yuhao Qi, Shenghai Wang, Zhaokun Sun, Jianhua Du, Jun Li   +4 more
wiley   +2 more sources

Case Report: A somatic NF1 splice-altering variant identified in lesional tissue in peripheral blood-negative segmental facial neurofibromatosis [PDF]

Frontiers in Neuroscience
BackgroundNeurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by loss-of-function variants in the NF1 gene. Segmental neurofibromatosis represents a rare mosaic form resulting from postzygotic mutations and is often ...
Song Su, Song Su, Haochen Zou, Yinhua Lin, Huafang Jiang, Ying Ren, Ying Ren, Wenchao Zhang, Wenchao Zhang, Wandong Hu, Wandong Hu, Deyue Li, Deyue Li, Wei Zhang, Hongwei Zhang, Hongwei Zhang   +15 more
doaj   +2 more sources

Valosin-Containing Protein Contributes to Plexiform Neurofibroma Formation and Represents a Novel Therapeutic Target [PDF]

Cells
Neurofibromatosis type 1 (NF1) patients are predisposed to develop plexiform neurofibromas (PNFs). By cross-comparison of RNA sequencing and RUNX1-CHIP sequencing data on mouse PNFs, we found that transcripts encoding the NF1-interacting p97/valosin ...
Lalitha Gopalan, Youjin Na, Liang Hu, Ashley Hall, Mi-Ok Kim, Eva Dombi, Sara Szabo, Nancy Ratner, Gang Huang, Jianqiang Wu   +9 more
doaj   +2 more sources

Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2

Nature Communications, 2018
Neurofibromin 2 (NF2) is a tumour suppressor that inhibits cell growth. Here the authors combine functional, biochemical, and structural studies and show that lipid-bound NF2 adopts an open conformation and that NF2 lipid binding is required for ...
Krishna Chinthalapudi, Vinay Mandati, Jie Zheng, Andrew J. Sharff, Gerard Bricogne, Patrick R. Griffin, Joseph Kissil, Tina Izard   +7 more
doaj   +2 more sources

Bipartite Interaction between Neurofibromatosis Type I Protein (Neurofibromin) and Syndecan Transmembrane Heparan Sulfate Proteoglycans

, 2001
The neurofibromatosis type 1 (NF1) gene encodes a large tumor suppressor protein (neurofibromin). Although it is known to possess Ras GTPase-activating protein (GAP) activity, the cellular role of neurofibromin remains unclear.
Hsueh, Y P, Sheng, M, Yi-Ping Hsueh, Roberts, A M, Roland G. Roberts, Volta, M, Manuela Volta, Roberts, R G, Anne M. Roberts, Morgan Sheng   +9 more
core   +6 more sources

Advancement in research and therapy of NF1 mutant malignant tumors

Cancer Cell International, 2020
The NF1 gene encodes neurofibromin, which is one of the primary negative regulatory factors of the Ras protein. Neurofibromin stimulates the GTPase activity of Ras to convert it from an active GTP-bound form to its inactive GDP-bound form through its ...
Junyan Tao, Dantong Sun, Lina Dong, Hua Zhu, Helei Hou   +4 more
doaj   +1 more source

The Contribution of Oxidative Stress to NF1-Altered Tumors

Antioxidants, 2023
The neurofibromatosis-1 gene (NF1) was initially characterized because its germline mutation is responsible for an inherited syndromic disease predisposing tumor development, in particular neurofibromas but also various malignancies.
Elisabetta Kuhn, Federica Natacci, Massimo Corbo, Luigi Pisani, Stefano Ferrero, Gaetano Bulfamante, Donatella Gambini   +6 more
doaj   +1 more source

Lesional Psoriatic Epidermis Displays Reduced Neurofibromin Immunoreactivity [PDF]

, 1995
Neurofibromin enhances the inactivation of protooncogene p21ras and has been suggested to function as a regulator of cell growth and differentiation. In normal skin, neurofibromin is particularly abundant in the basal keratinocytes of epidermis.
Karvonen, Jaakko, Karvonen, Seija-Liisa, Hirvonen, Outi, Ylä-Outinen, Heli, Peltonen, Juha   +4 more
core   +1 more source

Notching in the Posterior Border of the Ramus of Mandible in a Patient with Neurofibromatosis Type I – A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
Neurofibromatosis Type I (NFI) is a relatively common hereditary, autosomal dominant neurocutaneous condition. It is a benign peripheral nerve sheath tumour arising from Schwann cells and peripheral fibroblasts.
Bhuvana Krishnamoorthy, Parul Singh, Suma Gundareddy N, Manisha Lakhanpal Sharma, Manu Dhillon   +4 more
doaj   +1 more source