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http://purl.uniprot.org/citations/29066822http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/29066822http://www.w3.org/2000/01/rdf-schema#comment"Direct conversion technique to produce induced-neuronal (iN) cells from human fibroblasts within 2 weeks is expected to discover unknown neuronal phenotypes of neuropsychiatric disorders. Here, we present unique gene expression profiles in iN cells from patients with neurofibromatosis type 1 (NF1), a single-gene multifaceted disorder with comparatively high co-occurrence of autism spectrum disorder (ASD). Microarray-based transcriptomic analysis on iN cells from male healthy controls and male NF1 patients (NF1-iN cells) revealed that 149 genes expressions were significantly different (110 upregulated and 39 downregulated). We validated that mRNA of MEX3D (mex-3 RNA binding family member D) was lower in NF1-iN cells by real-time PCR with 12 sex-mixed samples. In NF1-iN cells on day 14, higher expression of FOS mRNA was observed with lower expression of MEX3D mRNA. Interestingly, BCL2 mRNA was higher in NF1-iN cells on day 5 (early-period) but not on day 14. Our data suggest that aberrant molecular signals due to NF1 mutations may disturb gene expressions, a subset of which defines continuum of the neuronal phenotypes of NF1 with ASD. Further translational studies using induced pluripotent stem (iPS) cell-derived neuronal cells are needed to validate our preliminary findings especially confirming meanings of analysis using early-period iN cells."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.org/dc/terms/identifier"doi:10.1038/s41598-017-14440-7"xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Kato S."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Sagata N."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Sakai Y."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Setoyama D."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Hayakawa K."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Nakahara T."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Ohga S."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Sawa A."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Furue M."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Shimokawa N."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Ishizuka K."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Kanba S."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Wilson A.M."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Kato T.A."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Ohgidani M."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Sato-Kasai M."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Kano S.I."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Kuwano N."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/author"Nakahara-Kido M."xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/name"Sci Rep"xsd:string
http://purl.uniprot.org/citations/29066822http://purl.uniprot.org/core/pages"13905"xsd:string