Results 181 to 190 of about 25,840 (207)

The nature and pathological impact of the c.1748A > G variant of the neurofibromin 1 gene

Gene
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, and mutations in the NF1 gene lead to RAS overactivation, which stimulates abnormal cell proliferation and can cause various tumors. The c.1748A > G mutation in the NF1 gene was initially classified as a missense mutation, but has also been suggested to be a splice mutation.
Ji-young Lee, Eun Sook Kim, Su Yeon Kim, Yun-jung Cho, Kwan Hoon Jo, Je Ho Han, Sung-dae Moon   +6 more
openaire   +2 more sources

Characterizing neurofibromin 1-altered breast cancer through genomic, functional, and clinical analyses

Virchows Archiv
Breast cancer is a leading cause of cancer-related morbidity and mortality among women worldwide, with increasing incidence in China. The neurofibromatosis type 1 (NF1) gene, a critical tumor suppressor regulating the Ras/MAPK pathway, has been implicated in aggressive breast cancer phenotypes, yet its somatic alterations in Asian populations remain ...
Xueyan, Mao, Kang, Ma, Yunjie, Wang, Cheng, Long, Xuejing, Tan, Xi, Chen, Bo, Chen   +6 more
openaire   +2 more sources

[Characterization of the neurofibromatosis type 1 gene and neurofibromin's role in cells].

Nihon rinsho. Japanese journal of clinical medicine, 2000
Neurofibromatosis type 1(NF1), a pleiotrophic autosomal dominant disorder, was first described in 1882 by Friedrich Daniel von Recklinghausen. The cloning of the NF1 gene located at 17q11.2 revealed that the gene contains 60 exons and spans 350 kb of genomic DNA in 1990. The gene product of NF1 is neurofibromin.
openaire   +1 more source

Structural basis of activation of the tumor suppressor protein neurofibromin

Molecular Cell, 2022
Sebastiaan Werten, Theresia Dunzendorfer-Matt, Stefan Lechner   +2 more
exaly  

Neurofibromin binding partners and signaling pathways in neurofibromatosis type 1

2022
Báez-Flores, Juan, Rodríguez, Mario, Lacal, Jesús   +2 more
openaire   +1 more source

Investigations of neurofibromin expression in the skin of patients with NF 1 (neurofibromatosis type 1)

Melanoma Research, 1994
D. Kaufmann, B. Maier, C. Bäuerle, F. Braun, I. Eisenbarth, J. Häuszler, S. Hoffmeyer, M. Stark, G. Assum, J. Griesser, W. Krone   +10 more
openaire   +1 more source

Targeting Neurofibromin 1 Inactivation in High-Grade Serous Ovarian Carcinoma

Annually, around 300,000 new cases of ovarian cancer are diagnosed worldwide, with 200,000 deaths. The most common and most deadly form of ovarian cancer, high-grade serous carcinoma (HGSC), accounts for the great majority of those deaths. HGSC almost always presents with peritoneal disease spread that requires the use of systemic therapy in addition ...
openaire   +1 more source

Neurofibromin: a general outlook

Clinical Genetics, 2006
Eloiza H Tajara
exaly  

Neurofibromin interacts with CRMP-2 and CRMP-4 in rat brain

Biochemical and Biophysical Research Communications, 2008
Yi-Ping Hsueh
exaly  

Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons

Developmental Brain Research, 2001
Dimitra Mangoura
exaly