http://purl.uniprot.org/citations/29066822 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/29066822 | http://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/29066822 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41598-017-14440-7"xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Kato S."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Sagata N."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Sakai Y."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Setoyama D."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Hayakawa K."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Nakahara T."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Ohga S."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Sawa A."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Furue M."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Shimokawa N."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Ishizuka K."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Kanba S."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Wilson A.M."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Kato T.A."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Ohgidani M."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Sato-Kasai M."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Kano S.I."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Kuwano N."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/author | "Nakahara-Kido M."xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/name | "Sci Rep"xsd:string |
http://purl.uniprot.org/citations/29066822 | http://purl.uniprot.org/core/pages | "13905"xsd:string |