The Mouse Neurofibromatosis Type 2 Gene Maps to Chromosome 11
Genomics, 1994 Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the development of bilateral vestibular schwannomas and meningiomas, which together represent 30% of primary brain tumors. The NF2 gene, which has recently been isolated, maps to the long arm of human chromosome 22.
J O, Claudio, D, Malo, G A, Rouleau
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Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]
, 2017 Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina +3 more
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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
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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
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Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency. [PDF]
PLoS Genetics, 2013 Neurofibromatosis type 1 (NF1), a genetic disease that affects 1 in 3,000, is caused by loss of a large evolutionary conserved protein that serves as a GTPase Activating Protein (GAP) for Ras.
James A Walker +10 more
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Tumores de Sistema Nervioso asociados con la Neurofibromatosis tipo 1 y 2
Revista Clínica de la Escuela de Medicina UCR-HSJD, 2018 La Neurofibromatosis, hoy entendida como un concepto abarcando dos tipos de enfermedades diferentes (tipo 1 y tipo 2) es una enfermedad genética perteneciente al grupo de patologías neurocutáneas, inicialmente descrita en 1849 y que aún en la ...
Carlos Mario Sequeira Quesada +1 more
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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
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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
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Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing
International Journal of Endocrinology, 2014 Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or ...
Rute Martins, Maria João Bugalho
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In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila.
PLoS ONE, 2014 The proper control of tissue growth is essential during normal development and an important problem in human disease. Merlin, the product of the Neurofibromatosis 2 tumor suppressor gene, has been extensively studied to understand its functions in growth
Heather S Gavilan +3 more
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