Results 41 to 50 of about 26,437 (217)

From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation

Journal of Biomedical Science, 2012
Both Neurofibromatosis type I (NF1) and inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) are autosomal dominant genetic disorders.
Hsueh Yi-Ping
doaj   +1 more source

HGNC: The Why and How of Standardised Gene Nomenclature [PDF]

, 2009
The HUGO Gene Nomenclature Committee (HGNC) aims to approve a unique gene symbol and gene name for every human gene. Standardisation of gene symbols is necessary to allow researchers and curators to refer to the same gene without ambiguity.
Elspeth Bruford, Mathew Wright, Michael Lush, Ruth Seal, Susan Gordon   +4 more
core   +2 more sources

Reduced expression of neurofibromin in human meningiomas [PDF]

British Journal of Cancer, 1997
Meningiomas are common, mostly benign, tumours arising from leptomeningeal cells of the meninges, which frequently contain mutations in the neurofibromatosis type 2 (NF2) gene. In this study, we analysed a protein product of the neurofibromatosis type 1 (NF1) gene, neurofibromin, in human established leptomeningeal cells LTAg2B, in 17 sporadic ...
V, Sundaram, J H, Lee, J A, Harwalkar, D J, Stein, M, Roudebush, D W, Stacey, M, Golubic   +6 more
openaire   +2 more sources

Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR [PDF]

Cell Reports, 2020
Sprouty-related, EVH1 domain-containing (SPRED) proteins negatively regulate RAS/mitogen-activated protein kinase (MAPK) signaling following growth factor stimulation. This inhibition of RAS is thought to occur primarily through SPRED1 binding and recruitment of neurofibromin, a RasGAP, to the plasma membrane.
Wupeng Yan, Evan Markegard, Srisathiyanarayanan Dharmaiah, Anatoly Urisman, Matthew Drew, Dominic Esposito, Klaus Scheffzek, Dwight V. Nissley, Frank McCormick, Dhirendra K. Simanshu   +9 more
openaire   +4 more sources

A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1

Креативная хирургия и онкология, 2017
Having made a literature review, the writers of the article analyze the data of native and foreign researchers on the study of neurofibromatosis type 1.
R. N. Mustafin, M. A. Bermisheva, E. K. Khusnutdinova   +2 more
doaj   +1 more source

Feedback activation of neurofibromin terminates growth factor-induced Ras activation. [PDF]

, 2016
BACKGROUND: Growth factors induce a characteristically short-lived Ras activation in cells emerging from quiescence. Extensive work has shown that transient as opposed to sustained Ras activation is critical for the induction of mitogenic programs ...
Cui, Yan, Esparza-Franco, Manuel A, Hennig, Anne, Ladds, Graham, Markwart, Robby, Prior, Ian A, Rubio, Ignacio, Schubert, Katja, Wolff, Katharina   +8 more
core   +2 more sources

Neurofibromatosis type 1: Modeling CNS dysfunction [PDF]

, 2012
Neurofibromatosis type 1 (NF1) is the most common monogenic disorder in which individuals manifest central nervous system (CNS) abnormalities. Affected individuals develop glial neoplasms (optic gliomas, malignant astrocytomas) and neuronal dysfunction ...
Gutmann, David H, Parada, Luis F, Ratner, Nancy, Silva, Alcino J   +3 more
core   +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

Neurofibromin Deficient Myeloid Cells are Critical Mediators of Aneurysm Formation In Vivo [PDF]

, 2014
Background Neurofibromatosis Type 1 (NF1) is a genetic disorder resulting from mutations in the NF1 tumor suppressor gene. Neurofibromin, the protein product of NF1, functions as a negative regulator of Ras activity in circulating hematopoietic and ...
Bessler, Waylan K., Case, Jamie, Clapp, D. Wade, Conway, Simon J., DiStasi, Matthew R., Downing, Brandon D., Hinds, Daniel M., Hingtgen, Cynthia M., Ingram, David A., Kamendulis, Lisa M., Li, Fang, Mund, Julie A., Sarchet, Kara N., Smiley, Lucy C., Stansfield, Brian K.   +14 more
core   +1 more source

Neurofibromin as a regulator of melanocyte development and differentiation [PDF]

Journal of Cell Science, 2008
Patients with the genetic disease type I neurofibromatosis (NF1) exhibit characteristic pigmentary lesions associated with loss of a single allele of NF1, encoding the 260 kDa protein neurofibromin. To understand the basis for these pigmentary problems, the properties of melanocytes haploinsufficient for the murine gene Nf1 were studied using Nf1 ...
Ganesh, Diwakar, Deming, Zhang, Shunlin, Jiang, Thomas J, Hornyak   +3 more
openaire   +2 more sources