Disease Models & Mechanisms, 2012 SUMMARY Neurofibromatosis type 1 (NF1) is a common, dominantly inherited genetic disorder that results from mutations in the neurofibromin 1 (NF1) gene.
Jimann Shin +17 more
doaj +1 more source
Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]
, 2016 Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja +2 more
core +2 more sources
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
Mouse Models of Neurofibromatosis 1 and 2
Neoplasia: 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
Influence of cellular models and individual factor in the biological response to chest CT scan exams
European Radiology Experimental, 2022 Background While computed tomography (CT) exams are the major cause of medical exposure to ionising radiation, there is increasing evidence that the potential radiation-induced risks must be documented.
Clément Devic +10 more
doaj +1 more source
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
Identification of the neurofibromatosis type 1 gene product. [PDF]
Proceedings of the National Academy of Sciences, 1991 The gene for neurofibromatosis type 1 (NF1) was recently identified by positional cloning. The complete cDNA encodes a polypeptide of 2818 amino acids. To study the NF1 gene product, antibodies were raised against both fusion proteins and synthetic peptides.
D H, Gutmann, D L, Wood, F S, Collins
openaire +2 more sources
The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low-grade glioma formation. [PDF]
, 2017 Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs).
Castillon, Guillaume A +9 more
core +3 more sources
Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes
Cardiogenetics, 2014 RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
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The RASopathies: from pathogenetics to therapeutics
Disease Models & Mechanisms, 2022 The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron +2 more
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