Results 21 to 30 of about 22,652 (194)

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 [PDF]

Human Molecular Genetics, 1998
Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of malignant tumours. It is caused by a wide spectrum of mutations affecting the NF1 gene.
A, Klose, M R, Ahmadian, M, Schuelke, K, Scheffzek, S, Hoffmeyer, A, Gewies, F, Schmitz, D, Kaufmann, H, Peters, A, Wittinghofer, P, Nürnberg   +10 more
openaire   +4 more sources

The Ras GTPase-activating protein neurofibromin 1 promotes the positive selection of thymocytes. [PDF]

Mol Immunol, 2013
TCR-mediated activation of the Ras signaling pathway is critical for T cell development in the thymus and function in the periphery. However, which members of a family of Ras GTPase-activating proteins (RasGAPs) negatively regulate Ras activation in T cells is unknown.
Oliver JA, Lapinski PE, Lubeck BA, Turner JS, Parada LF, Zhu Y, King PD.   +6 more
europepmc   +4 more sources

Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. [PDF]

Genetics, 2012
AbstractIdentifying genomic alterations driving breast cancer is complicated by tumor diversity and genetic heterogeneity. Relevant mouse models are powerful for untangling this problem because such heterogeneity can be controlled. Inbred Chaos3 mice exhibit high levels of genomic instability leading to mammary tumors that have tumor gene expression ...
Wallace MD, Pfefferle AD, Shen L, McNairn AJ, Cerami EG, Fallon BL, Rinaldi VD, Southard TL, Perou CM, Schimenti JC.   +9 more
europepmc   +4 more sources

Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation [PDF]

Journal of Neuroscience Research, 1993
AbstractNeurofibromin, the product of the neurofibromatosis type 1 (NF1) gene, is a ∼250 kDa protein expressed predominantly in cortical neurons and oligodendrocytes in the central nervous system (CNS) and sensory neurons and Schwann cells in the peripheral nervous system (PNS). To gain insight into the biological role of neurofibromin in Schwann cells,
Gutmann, D. H., Tennekoon, Gihan I., Cole, Jeffrey L., Collins, Francis S., Rutkowski, J. Lynn   +4 more
openaire   +5 more sources

Sensitivity of glioblastomas to clinically available MEK inhibitors is defined by neurofibromin 1 deficiency. [PDF]

Cancer Res, 2012
Abstract Loss of neurofibromin 1 (NF1) leads to hyperactivation of RAS, which in turn signals through the RAF/MEK/ERK and phosphoinositide 3-kinase (PI3K)/mTOR pathways to regulate cell growth and survival. Because NF1-deficient acute myeloid leukemias are sensitive to MEK inhibitors, we investigated here whether NF1-deficient ...
See WL, Tan IL, Mukherjee J, Nicolaides T, Pieper RO.   +4 more
europepmc   +6 more sources

Loss of neurofibromin induces inflammatory macrophage phenotypic switch and retinal neovascularization via GLUT1 activation

Cell Reports
Summary: Persons with neurofibromatosis type 1 (NF1) exhibit enhanced glucose metabolism, which is replicated in Nf1-mutant mice. Inflammatory macrophages invest NF1-associated tumors, and targeting macrophages appears efficacious in NF1 models ...
Brian Stansfield, Simone Kennard
exaly   +3 more sources

Neurofibromin 1 controls metabolic balance and Notch-dependent quiescence of murine juvenile myogenic progenitors [PDF]

Nature Communications
Patients affected by neurofibromatosis type 1 (NF1) frequently show muscle weakness with unknown etiology. Here we show that, in mice, Neurofibromin 1 (Nf1) is not required in muscle fibers, but specifically in early postnatal myogenic progenitors (MPs),
Xiaoyan Wei, Angelos Rigopoulos, Matthias Lienhard, Sophie Pöhle-Kronawitter, Georgios Kotsaris, Julia Franke, Nikolaus Berndt, Joy Orezimena Mejedo, Hao Wu, Stefan Börno, Bernd Timmermann, Arunima Murgai, Rainer Glauben, Sigmar Stricker   +13 more
doaj   +2 more sources

Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia [PDF]

Disease Models & Mechanisms, 2023
Leonard D. Kuhrt, Edyta Motta, Nirmeen Elmadany, Hannah Weidling, Raphaela Fritsche-Guenther, Ibrahim E. Efe, Olivia Cobb, Jit Chatterjee, Lucy G. Boggs, Marina Schnauß, Sebastian Diecke, Marcus Semtner, Corina Anastasaki, David H. Gutmann, Helmut Kettenmann   +14 more
doaj   +2 more sources

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

PLoS ONE, 2018
The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology ...
Harleen Chohan, Mitra Esfandiarei, Darian Arman, Catherine D Van Raamsdonk, Cornelis van Breemen, Jan M Friedman, Kimberly A Jett   +6 more
doaj   +3 more sources

Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment

Disease Models & Mechanisms, 2022
Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurogenetic disorder caused by mutations in the gene neurofibromin 1 (NF1). NF1 predisposes individuals to a variety of symptoms, including peripheral nerve tumors, brain tumors and cognitive ...
Andrew H. Miller, Mary C. Halloran
doaj   +1 more source