Short CommunicationA Common Set of at Least 11 Functional Genes Is Lost in the Majority of NF1 Patients with Gross Deletions☆
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Cited by (34)
Neurofibromatosis type 2 and multiple sclerosis
2020, Multiple Sclerosis and Related DisordersCitation Excerpt :An association between Neurofibromatosis type 1 and the development of MS has been previously described (Etemadifar et al., 2009). Patients with large deletions in the NF1 gene have a loss of a common set of 11 functional genes, including the loss of the OMG gene, encoding the oligodendrocyte myelin glycoprotein which lies in an intron of the NF1 gene (Jenne et al., 2000,). However, this specific mutation is not a prerequisite to develop MS (Johnson et al., 2000), therefore a genetic association between these two diseases can be excluded.
A combined omics approach to generate the surface atlas of human naive CD4<sup>+</sup> T cells during early T-cell receptor activation
2015, Molecular and Cellular ProteomicsHigh frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
2004, American Journal of Human GeneticsCitation Excerpt :In the adult mouse brain, Jjaz1 is highly expressed in the hippocampus, the pyriform cortex, the habenula, the granular cell layer of the cerebellum, and the surrounding Purkinje cells (fig. 5B and 5D). Previous studies showed that, in ∼50% of NF1 microdeletions, the breakpoints are located in the NF1 LCRs (López Correa et al. 1999, 2001; Dorschner et al. 2000; Jenne et al. 2000, 2001). In our sample, 13 (62%) of 21 deletions have breakpoints in the NF1 LCRs (table 2).
Oligodendrocyte myelin glycoprotein (OMgp): Evolution, structure and function
2004, Brain Research Reviews
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Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. AJ272195, AJ272196, AJ272197.
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