Results 81 to 90 of about 22,402 (163)

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1

, 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 ...
Schmitz, F., Wittinghofer, A., Nuernberg, P., Klose, A., Peters, H., Hoffmeyer, S., Gewies, A., Kaufmann, D., Schuelke, M., Scheffzek, K., Ahmadian, M.R.   +10 more
core  

Supplementary Figure 1 from Phenotypic Reversion of Invasive Neurofibromin-Deficient Schwannoma by FTS: Ras Inhibition Reduces BMP4/Erk/Smad Signaling

, 2011
Supplementary Figure 1 from Phenotypic Reversion of Invasive Neurofibromin-Deficient Schwannoma by FTS: Ras Inhibition Reduces BMP4/Erk/Smad ...
Yoel Kloog (196187), Marcelo Ehrlich (108109), Batya Barkan (14898749)   +2 more
core   +1 more source

A neurofibromatosis type 1 family report with multiple cases in 3 consecutive Generations

مجله دانشگاه علوم پزشکی گرگان, 2017
Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it
M Oladnabi, T Haddadi, K Kianmehr, N Mansour Samaei, M Mehri   +4 more
doaj  

Neurofibromin Regulated Signaling Pathways in Endochondral Ossification

, 2015
Neurofibromatosis type 1 (NF1) is the most common autosomal dominant genetic disorder occurring in 1 of every 3500 live births. NF1 is caused by loss-of-function mutations in NF1, the gene encoding the Ras-GAP neurofibromin.
Karolak, Matthew Ross
core  

Upregulation of Tumor Suppressor Protein Neurofibromin in Normal Human Wound Healing and In Vitro Evidence for Platelet Derived Growth Factor (PDGF) and Transforming Growth Factor-β1 (TGF-β1) Elicited Increase in Neurofibromin mRNA Steady-State Levels in Dermal Fibroblasts

, 1998
We first studied expression of neurofibromin by immunohistochemistry in scars obtained from operations involving areas of healing wounds. The results demonstrated increased immunoreactivity for neurofibromin in the fibroblastic cell population of the ...
Lakkakorpi, Jouni, Vähä-Kreula, Marko, Hirvonen, Outi, Ylä-Outinen, Heli, Björkstrand, Ann-Sofi, Aaltonen, Vesa, Laato, Matti, Peltonen, Juha   +7 more
core   +1 more source

Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance. [PDF]

Oncol Rep, 2022
Tak E, Kim M, Cho Y, Choi S, Kim J, Han B, Kim HD, Jang CS, Kim JE, Hong YS, Kim SY, Kim TW.   +11 more
europepmc   +1 more source

Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis

, 2008
To study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development, we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor cells using the brain lipid binding protein (BLBP) promoter.
Hegedűs, Balázs, Lee, Da Yong, Emnett, R. J., Yeh, T. H., Li, J.   +4 more
core   +1 more source

The NF1 somatic mutational landscape in sporadic human cancers

Human Genomics, 2017
Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper, Meena Upadhyaya   +4 more
doaj   +1 more source

Molecular characteristics and clinical outcomes of patients with Neurofibromin 1-altered metastatic colorectal cancer. [PDF]

Oncogene, 2022
Arai H, Elliott A, Millstein J, Xiu J, Ou FS, Innocenti F, Wang J, Battaglin F, Jayachandran P, Kawanishi N, Soni S, Zhang W, Sohal D, Goldberg RM, Hall MJ, Scott AJ, Khushman M, Hwang JJ, Lou E, Weinberg BA, Lockhart AC, Shields AF, Abraham JP, Magee D, Stafford P, Zhang J, Venook AP, Korn WM, Lenz HJ.   +28 more
europepmc   +1 more source

Characterisation of the interaction between syndecan-2, neurofibromin and CASK: Dependence of interaction on syndecan dimerization

, 2010
Neurofibromin and calcium/calmodulin-dependent serine protein kinase (CASK) are membrane-associated signalling and scaffolding proteins which are mutated in human genetic neurological disorders.
Volta, Manuela, Calza, Stefano, Roberts, Anne M., Roberts, Roland G.   +3 more
core   +1 more source