Results 171 to 180 of about 25,840 (207)
Some of the next articles are maybe not open access.
Loss of Neurofibromin in the Leptomeningeal Astroglial Heterotopia of NF-1
Pediatric Neurology, 1998Neurofibromin, 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 +4 more
openaire +2 more sources
Neurofibromin Expression and Astrogliosis in Neurofibromatosis (Type 1) Brains
Journal of Neuropathology and Experimental Neurology, 1995Patients 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 +3 more
openaire +2 more sources
Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt
Biochemical and Biophysical Research Communications, 2006Neurofibromin (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 +7 more
openaire +2 more sources
Solubility survey of fragments of the neurofibromatosis type 1 protein neurofibromin
Protein Expression and Purification, 2009The 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. +4 more
openaire +3 more sources
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1
Human Molecular Genetics, 1995The 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 +5 more
openaire +2 more sources
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 +3 more
openaire +2 more sources
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 +3 more
openaire +2 more sources
Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase [PDF]
FEBS Letters, 1996 The critical function of the neurofibromatosis type 1 NF1) gene product (neurofabromin) is not well defined except that neurofibromin has homology with a family of the GTPase‐activating proteins (GAPs). In this study, we confirmed that neuofibromin is constitutively phosphorylated and detected kinase activities which specifically phosphorylated the ...
Izawa, Ichiro +2 more
exaly +3 more sources
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 +6 more
openaire +2 more sources
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 +6 more
openaire +2 more sources
Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
Developmental period medicine, 2014Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling.
Anna, Abramowicz, Monika, Gos
openaire +1 more source
Annals of the New York Academy of Sciences, 1999
ABSTRACT: The neurofibromatosis type 1 (NF1) gene product, neurofibromin, regulates activation of the Ras intracellular signaling pathway in Schwann cells. Schwann cells purified from mouse embryos with null mutations in the Nf1 gene increase expression of the major myelin glycoprotein P0.
T, Rosenbaum +4 more
openaire +3 more sources
ABSTRACT: The neurofibromatosis type 1 (NF1) gene product, neurofibromin, regulates activation of the Ras intracellular signaling pathway in Schwann cells. Schwann cells purified from mouse embryos with null mutations in the Nf1 gene increase expression of the major myelin glycoprotein P0.
T, Rosenbaum +4 more
openaire +3 more sources