Results 1 to 10 of about 23,942 (228)
A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]
Journal of Medical Case ReportsBackground Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung +3 more
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Multimodality Imaging Features of Breast Carcinoma in Women with Neurofibromatosis Type 1 (NF 1) – A Report of Two Cases [PDF]
Middle East Journal of Cancer, 2021 With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans.
Wai Chan +5 more
doaj +1 more source
Biomarker Research, 2021 MAP/ERK kinase 1 and 2 (MEK 1/2) inhibitors (MEKi) are investigated in several trials to treat lesions that arise from pathogenic variants of the Neurofibromatosis type 1 and type 2 genes (NF1, NF2).
Anja Harder
doaj +1 more source
Expression of Modulates the Progression of Mutated Thyroid Cancer Cells [PDF]
Endocrinology and Metabolism, 2019 BackgroundWe previously reported the frequent neurofibromatosis 2 (NF2) gene mutations in anaplastic thyroid cancers in association with the BRAFV600E mutation.
Mi-Hyeon You +5 more
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Many ribosomal protein genes are cancer genes in zebrafish. [PDF]
PLoS Biology, 2004 We have generated several hundred lines of zebrafish (Danio rerio), each heterozygous for a recessive embryonic lethal mutation. Since many tumor suppressor genes are recessive lethals, we screened our colony for lines that display early mortality and/or
Adam Amsterdam +6 more
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NF2 gene in neurofibromatosis type 2 patients [PDF]
Human Molecular Genetics, 1998 Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins).
J, Zucman-Rossi +10 more
openaire +2 more sources
Expression of the Neurofibromatosis Type 2 Gene in Human Tissues [PDF]
Journal of Histochemistry & Cytochemistry, 1999 The neurofibromatosis Type 2 tumor suppressor gene is implicated in the hereditary tumor syndrome NF2, hallmarked by bilateral vestibular schwannomas, meningiomas, and ocular non-neoplastic features. The gene product has characteristics of a membrane cytoskeleton-linking protein but the mechanism of tumor suppression by the NF2 protein remains to be ...
den Bakker, MA +5 more
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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
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Effect of merlin phosphorylation on neurofibromatosis 2 (NF2) gene function [PDF]
Oncogene, 2004 The neurofibromatosis 2 (NF2) tumor suppressor gene product, merlin, belongs to the ezrin-radixin-moesin (ERM) subgroup of the Protein 4.1 family, which links cell surface glycoproteins to the actin cytoskeleton. Previous studies have suggested that phosphorylation of merlin, similar to other ERM proteins, may regulate its function.
Ezequiel I, Surace +2 more
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Scientific Reports, 2021 Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive Schwann cell-derived neoplasms that occur sporadically or in patients with neurofibromatosis type 1 (NF1).
Jody Fromm Longo +9 more
doaj +1 more source