Results 31 to 40 of about 25,034,870 (238)

Induced phase separation of mutant NF2 imprisons the cGAS-STING machinery to abrogate antitumor immunity.

open access: yesMolecules and Cells, 2021
Missense mutations of the tumor suppressor Neurofibromin 2 (NF2/Merlin/schwannomin) result in sporadic to frequent occurrences of tumorigenesis in multiple organs. However, the underlying pathogenicity of NF2-related tumorigenesis remains mostly unknown.
Fansen Meng   +20 more
semanticscholar   +1 more source

Establishment and characterization of a highly metastatic human osteosarcoma cell line from osteosarcoma lung metastases

open access: yesJournal of Bone Oncology, 2021
OS (Osteosarcoma) is the most common malignant tumor in adolescents, and lung metastasis limits its therapeutic outcome. The present study aimed to establish a highly metastatic human OS cell line directly from lung metastases and characterize its ...
Zepei Fan   +7 more
doaj   +1 more source

Activation of MAPK signalling results in resistance to saracatinib (AZD0530) in ovarian cancer [PDF]

open access: yes, 2017
SRC tyrosine kinase is frequently overexpressed and activated in late-stage, poor prognosis ovarian tumours, and preclinical studies have supported the use of targeted SRC inhibitors in the treatment of this disease.
El-Helali, Aya   +6 more
core   +2 more sources

Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian patients [PDF]

open access: yesمجله علوم پزشکی فیض (پیوسته), 2023
Background: Neurofibromatosis Type 1 (NF1) is an autosomal dominant disease caused by mutations in a tumor suppressor protein called neurofibromin. The NF1 gene consists of 60 exons and due to the large size of the NF1 gene, variation in mutations and ...
Nafiseh Farhadi-Shaheni   +2 more
doaj   +2 more sources

Somatic mutation landscape of a meningioma and its pulmonary metastasis

open access: yesCancer Communications, 2018
Background Extracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated.
Yaran Du   +5 more
doaj   +1 more source

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]

open access: yes, 2013
Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M   +3 more
core   +1 more source

Durable Complete Response of a Recurrent Mesencephalic Glioblastoma Treated with Trametinib and Low-Dose Dabrafenib in a Patient with Neurofibromatosis Type 1

open access: yesCase Reports in Oncology, 2020
Patients with neurofibromatosis type 1 (NF1) have an increased lifetime risk for the development of nervous system tumors, including high-grade gliomas (glioblastoma).
Gil Awada   +5 more
doaj   +1 more source

Understanding intellectual disability through RASopathies [PDF]

open access: yes, 2014
Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael   +1 more
core   +1 more source

The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]

open access: yesمجله دانشگاه علوم پزشکی گرگان, 2023
Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj  

Neurofibromin is a novel regulator of Ras-induced reactive oxygen species production in mice and humans [PDF]

open access: yes, 2016
Neurofibromatosis type 1 (NF1) predisposes individuals to early and debilitating cardiovascular disease. Loss of function mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin, leads to accelerated p21(Ras) activity and ...
Bessler, Waylan K.   +10 more
core   +1 more source

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