Results 31 to 40 of about 21,804 (172)

A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1

open access: yesКреативная 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

Reduced expression of neurofibromin in human meningiomas [PDF]

open access: yesBritish 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

Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR [PDF]

open access: yesCell 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

From neurodevelopment to neurodegeneration: the interaction of neurofibromin and valosin-containing protein/p97 in regulation of dendritic spine formation

open access: yesJournal 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

Neurofibromin as a regulator of melanocyte development and differentiation [PDF]

open access: yesJournal of Cell Science, 2008
Patients with the genetic disease type I neurofibromatosis (NF1) exhibit characteristic pigmentary lesions associated with loss of a single allele of NF1, encoding the 260 kDa protein neurofibromin. To understand the basis for these pigmentary problems, the properties of melanocytes haploinsufficient for the murine gene Nf1 were studied using Nf1 ...
Ganesh, Diwakar   +3 more
openaire   +2 more sources

Vcp Overexpression and Leucine Supplementation Increase Protein Synthesis and Improve Fear Memory and Social Interaction of Nf1 Mutant Mice

open access: yesCell 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

Mouse Models of Neurofibromatosis 1 and 2

open access: yesNeoplasia: An International Journal for Oncology Research, 2002
The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj   +1 more source

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

open access: yesMolecular 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

Nuclear Isoforms of Neurofibromin Are Required for Proper Spindle Organization and Chromosome Segregation

open access: yesCells, 2020
Mitotic spindles are highly organized, microtubule (MT)-based, transient structures that serve the fundamental function of unerring chromosome segregation during cell division and thus of genomic stability during tissue morphogenesis and homeostasis ...
Charoula Peta   +4 more
doaj   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

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