Cell
ArticleGenetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene
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2018, Progress in Brain ResearchCitation Excerpt :Neurofibromatosis type I, resulting from mutation of one copy of the NF1 gene, is a common, dominant genetic human disorder. The NF1 gene is located on the chromosome 17q11.2 (Barker et al., 1987; Seizinger et al., 1987) and encodes its protein product neurofibromin. In the CNS NF1 gene also contains multiple splice variants (exon 9a, 23a and 48a) and that the NF1 RasGAP is regulated by alternative splicing of exon 23a.
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2015, Journal of AutoimmunityEwing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association
2015, Pathology Research and PracticeCitation Excerpt :CIC-DUX4 fusion overexpresses ETV4, ETV1 and ETV5, three ETS transcription factors from the polyoma enhancer activator 3 (PEA3) subfamily [2,5]. Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by a mutation in the NF1 gene, which is located on 17q11.2 [16]. NF1 encodes neurofibromin, a tumor suppressor that also plays a role in cell proliferation and differentiation and is normally expressed in many tissues [17].
Neurofibromatosis type 2
2015, Handbook of Clinical NeurologyCitation Excerpt :Although many reports emphasized the lack of skin tumors or café-au-lait patches in patients and families with bilateral vestibular schwannomas (Gardner and Frazier, 1930; Worster-Drought et al., 1937; Young et al., 1971), the final separation of NF1 and NF2 and their delineation only came in 1987. In that year the gene for NF1 was localized to chromosome 17 (Seizinger et al., 1987) and NF2 to chromosome 22 (Rouleau et al., 1987) by genetic linkage analysis. As a result of this and the increasing clinical evidence to implicate two distinct disorders (Kanter et al., 1980), the US National Institutes of Health (NIH) Consensus Statement published that year (NIH Consensus Development Conference Statement, 1987) formally separated them.