Results 41 to 50 of about 26,229 (202)
Kidney & Blood Pressure Research, 2023 Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu +7 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
Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR [PDF]
Cell Reports, 2020 Sprouty-related, EVH1 domain-containing (SPRED) proteins negatively regulate RAS/mitogen-activated protein kinase (MAPK) signaling following growth factor stimulation. This inhibition of RAS is thought to occur primarily through SPRED1 binding and recruitment of neurofibromin, a RasGAP, to the plasma membrane.
Wupeng Yan +9 more
openaire +4 more sources
Journal of Biomedical Science, 2012 Both Neurofibromatosis type I (NF1) and inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) are autosomal dominant genetic disorders.
Hsueh Yi-Ping
doaj +1 more source
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 +3 more
core +2 more sources
A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1
Креативная хирургия и онкология, 2017 Having made a literature review, the writers of the article analyze the data of native and foreign researchers on the study of neurofibromatosis type 1.
R. N. Mustafin +2 more
doaj +1 more source
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
Reduced expression of neurofibromin in human meningiomas [PDF]
British Journal of Cancer, 1997 Meningiomas are common, mostly benign, tumours arising from leptomeningeal cells of the meninges, which frequently contain mutations in the neurofibromatosis type 2 (NF2) gene. In this study, we analysed a protein product of the neurofibromatosis type 1 (NF1) gene, neurofibromin, in human established leptomeningeal cells LTAg2B, in 17 sporadic ...
V, Sundaram +6 more
openaire +2 more sources
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1
Molecular Genetics & Genomic Medicine, 2021 Background Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health ...
Nahla N.Abdel‐Aziz +6 more
doaj +1 more source
Challenges in drug discovery for neurofibromatosis type 1-associated low-grade glioma [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that results from germline mutations of the NF1 gene, creating a predisposition to low-grade gliomas (pilocytic astrocytoma; PA) in young children. Insufficient data and resources represent
Gutmann, David H +3 more
core +3 more sources