Results 41 to 50 of about 25,034,870 (238)

Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis

International Journal of Molecular Sciences, 2021
Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas.
S. Bachir, Sanjit Shah, Scott B. Shapiro, A. Koehler, A. Mahammedi, R. Samy, M. Zuccarello, E. Schorry, S. Sengupta   +8 more
semanticscholar   +1 more source

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

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

Loss of GTPase activating protein neurofibromin stimulates paracrine cell communication via macropinocytosis

Redox Biology, 2019
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF1) tumor suppressor gene, is a negative regulator of Ras signaling. Patients with mutations in NF1 have a strong predisposition for cardiovascular disease, which contributes to their ...
Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Mary Cherian-Shaw, Rebekah Tritz, Caleb A. Padgett, Farlyn Hudson, Hanfang Zhang, Brian K. Stansfield, Gábor Csányi   +9 more
doaj   +1 more source

Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]

, 2016
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
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

Neurofibromatosis Type 1 (NF1) Tumor Suppressor, Neurofibromin, Regulates the Neuronal Differentiation of PC12 Cells via Its Associating Protein, CRMP-2 [PDF]

Journal of Biological Chemistry, 2008
Neurofibromatosis type 1 (NF1) tumor suppressor gene product, neurofibromin, functions in part as a Ras-GAP, a negative regulator of Ras. Neurofibromin is implicated in the neuronal abnormality of NF1 patients; however, the precise cellular function of neurofibromin has yet to be clarified.
Siriporn, Patrakitkomjorn, Daiki, Kobayashi, Takashi, Morikawa, Masayo Morifuji, Wilson, Nobuyuki, Tsubota, Atsushi, Irie, Tatsuya, Ozawa, Masashi, Aoki, Nariko, Arimura, Kozo, Kaibuchi, Hideyuki, Saya, Norie, Araki   +11 more
openaire   +2 more sources

Mutation of PTPN11 (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to BRAP Mutation

Cancers, 2022
Germline mutations of NF1 cause neurofibromatosis type 1 (NF1) through the activation of the RAS signaling pathway, and some NF1 patients develop malignant peripheral nerve sheath tumors (MPNSTs). Here, we established subclones of the human NF1-MPNST cell line sNF96.2 that manifest increased tumorigenic activity and increased phosphorylation of the ...
Ritsuko Harigai, Ryo Sato, Chikako Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Takanori Hirose, Hideyuki Saya, Yoshimi Arima   +7 more
openaire   +2 more sources

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

Conditional Inactivation of Nf1 and Pten in Schwann Cells Results in Abnormal Neuromuscular Junction Maturation

G3: Genes, Genomes, Genetics, 2019
The neuromuscular junction (NMJ) consists of three components, namely presynaptic motor neurons, postsynaptic muscle fibers and perisynaptic Schwann cells (PSCs).
Xiao-Xiao Li, Shi-Jie Zhang, Amy P. Chiu, Lilian H. Lo, Jeffery C. To, He-Ning Cui, Dewi K. Rowlands, Vincent W. Keng   +7 more
doaj   +1 more source