Results 41 to 50 of about 25,840 (207)
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 +21 more
core +2 more sources
Sensitivity of glioblastomas to clinically available MEK inhibitors is defined by neurofibromin 1 deficiency. [PDF]
Cancer Res, 2012 Abstract Loss of neurofibromin 1 (NF1) leads to hyperactivation of RAS, which in turn signals through the RAF/MEK/ERK and phosphoinositide 3-kinase (PI3K)/mTOR pathways to regulate cell growth and survival. Because NF1-deficient acute myeloid leukemias are sensitive to MEK inhibitors, we investigated here whether NF1-deficient ...
See WL +4 more
europepmc +6 more sources
Activation of MAPK signalling results in resistance to saracatinib (AZD0530) in ovarian cancer [PDF]
, 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
Neurobiology of Disease, 1995 Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries.
Karen K. Norton +2 more
doaj +1 more source
Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosomes of human melanocytes [PDF]
FEBS Letters, 2013 Neurofibromin (NF1) is encoded by the NF1 tumour suppressor gene. Mutations result in a disorder known as Neurofibromatosis Type 1 (NF‐1), and patients are often diagnosed due to the presence of unusual pigmentary patterns that include Café au lait macules (CALMs). Little is known about how loss of NF1 results in pigmentary defects in melanocytes.
Arun, Vedant +4 more
openaire +2 more sources
Understanding intellectual disability through RASopathies [PDF]
, 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
Neurofibromin is a novel regulator of Ras-induced reactive oxygen species production in mice and humans [PDF]
, 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
Cell Reports, 2020 Summary: Neurofibromatosis type 1 (NF1) is a dominant genetic disorder manifesting, in part, as cognitive defects. Previous study indicated that neurofibromin (NF1 protein) interacts with valosin-containing protein (VCP)/P97 to control dendritic spine ...
Yu-Tzu Shih +4 more
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 +4 more
core +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 +8 more
core +2 more sources