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The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing. [PDF]

Front Neurol
Du Y, Bai T, Song J, Zhang L, Huang H, Han P, Gai F, Guo J, Li J, Lv C, Shao J, Zhang G, Tao H, Xi Y.   +13 more
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Neurofibromin Expression and Astrogliosis in Neurofibromatosis (Type 1) Brains

Journal of Neuropathology and Experimental Neurology, 1995
Patients with type 1 neurofibromatosis (NF1) have mutations in the gene encoding the protein neurofibromin. Immunocytochemistry on sections of cortex and cerebellum of unaffected and NF1 individuals and wild-type and NF1-deficient mice showed that the distribution of neurofibromin was similar to that reported for rat.
M L, Nordlund, T A, Rizvi, C I, Brannan, N, Ratner   +3 more
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Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt

Biochemical and Biophysical Research Communications, 2006
Neurofibromin (Nf1) is an approximately 280 kDa protein having tumor suppressor function, presumably by virtue of its GTPase activating domain, but little is known regarding molecular aspects of its effector pathways. Caveolin-1 (Cav-1) regulates diverse signaling molecules and has itself been implicated as a tumor suppressor.
Madanamohan, Boyanapalli, Oscar B, Lahoud, Ludwine, Messiaen, Bhumsoo, Kim, Marianna S, Anderle de Sylor, Sara J, Duckett, Sita, Somara, Daniel D, Mikol   +7 more
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Loss of Neurofibromin in the Leptomeningeal Astroglial Heterotopia of NF-1

Pediatric Neurology, 1998
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF-1) gene, has important roles in tumor suppression or normal embryogenesis. Cerebellar leptomeningeal astroglial heterotopia (LAH) is a proliferation of heterotopic astroglial cells and fibers in the cerebellar leptomeninges, which is characteristically demonstrated in the NF-1 ...
M, Kato, M, Mizuguchi, S, Hattori, S, Nakamura, S, Takashima   +4 more
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Solubility survey of fragments of the neurofibromatosis type 1 protein neurofibromin

Protein Expression and Purification, 2009
The protein giant neurofibromin (320kDa) is the protein product of the NF1 tumor suppressor gene, alterations of which are responsible for the pathogenesis of neurofibromatosis type 1 (NF1). Neurofibromin is a Ras-specific GTPase activating protein (RasGAP) that, 15 years after the cloning of the gene, remains the only clearly defined function of the ...
Bonneau, F., Lenherr, E., Pena, V., Hart, D., Scheffzek, K.   +4 more
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On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

Human Molecular Genetics, 1995
The autosomal dominantly inherited disease neurofibromatosis type 1 (NF1) is caused by mutations of a large gene comprising 59 exons, which code for a protein with 2818 amino acids called neurofibromin. Employing an expressed polymorphic site in exon 5 of the neurofibromin gene, the expression of its alleles was analysed quantitatively by scanning ...
S, Hoffmeyer, G, Assum, J, Griesser, D, Kaufmann, P, Nürnberg, W, Krone   +5 more
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Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients

Archives of Dermatological Research, 1999
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder characterized by neurofibromas and café-au-lait macules. Most of the NF1 gene germline mutations result in a reduction in the level of neurofibromin. As shown recently, the neurofibromin level can be regulated posttranslationally through alteration of the protein half ...
D, Kaufmann, B, Bartelt, S, Hoffmeyer, R, Müller   +3 more
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Decreased expression of neurofibromin contributes to epithelial–mesenchymal transition in neurofibromatosis type 1

Experimental Dermatology, 2010
Please cite this paper as: Decreased expression of neurofibromin contributes to epithelial–mesenchymal transition in neurofibromatosis type 1. Experimental Dermatology 2010; 19: e136–e141.Abstract:  Plexiform and/or dermal neurofibromas are nerve sheath tumors of the peripheral nervous system that are usually present in individuals with ...
Yoshimi, Arima, Hidemi, Hayashi, Kanako, Kamata, Takaaki M, Goto, Mikako, Sasaki, Akira, Kuramochi, Hideyuki, Saya   +6 more
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ICSBP Activates Transcription of the Gene Encoding Neurofibromin 1 in Differentiating Myeloid Cells.

Blood, 2005
Abstract Previous studies in murine models and human myeloid malignancies indicate that the interferon consensus sequence binding protein (ICSBP) functions as a leukemia tumor suppressor. Previously identified ICSBP target genes include genes encoding gp91phox and p67phox (components of the phagocyte respiratory burst oxidase), the Toll ...
Elizabeth A. Eklund, Chunliu Zhu, Gurveen Saberwal, Weiqi Huang   +3 more
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