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Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.
Maekawa M, Iwayama Y, Ohnishi T, Toyoshima M, Shimamoto C, Hisano Y, Toyota T, Balan S, Matsuzaki H, Iwata Y, Takagai S, Yamada K, Ota M, Fukuchi S, Okada Y, Akamatsu W, Tsujii M, Kojima N, Owada Y, Okano H, Mori N, Yoshikawa T. Maekawa M, et al. Sci Rep. 2015 Nov 9;5:16239. doi: 10.1038/srep16239. Sci Rep. 2015. PMID: 26548558 Free PMC article.
The SLC27A4 Ser209 allele was more frequently represented in ASD samples. Furthermore, we showed that a SLC27A4 Ser209 mutant resulted in significantly higher fluorescently-labeled fatty acid uptake into bEnd3 cells, a mouse brain capillary-derived endothelia …
The SLC27A4 Ser209 allele was more frequently represented in ASD samples. Furthermore, we showed that a SLC27A4 Ser209 …
Erratum: Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.
Maekawa M, Iwayama Y, Ohnishi T, Toyoshima M, Shimamoto C, Hisano Y, Toyota T, Balan S, Matsuzaki H, Iwata Y, Takagai S, Yamada K, Ota M, Fukuchi S, Okada Y, Akamatsu W, Tsujii M, Kojima N, Owada Y, Okano H, Mori N, Yoshikawa T. Maekawa M, et al. Sci Rep. 2016 Jan 29;6:20268. doi: 10.1038/srep20268. Sci Rep. 2016. PMID: 26822806 Free PMC article. No abstract available.
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, Alhedaithy A, Alamr M, Bawazir M, Mohammad S, Abdelhay S, Bashir S, Housawi Y. Mir A, et al. Hum Genet. 2022 Jan;141(1):81-99. doi: 10.1007/s00439-021-02404-x. Epub 2021 Nov 19. Hum Genet. 2022. PMID: 34797406
We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC27A4, SLC45A1, SLC46A1, and SLC52A3. Eight patients harbored path …
We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, …
Identification and Analysis of ZIC-Related Genes in Cerebellum of Autism Spectrum Disorders.
Li H, Cui J, Hu C, Li H, Luo X, Hao Y. Li H, et al. Neuropsychiatr Dis Treat. 2024 Feb 22;20:325-339. doi: 10.2147/NDT.S444138. eCollection 2024. Neuropsychiatr Dis Treat. 2024. PMID: 38410689 Free PMC article.
OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant genetic heterogeneity. ...(iii) OLFM3, SLC27A4, GRB2, TMED1, NR2F1, and STRBP are closely related to ZIC1, ZIC2, and ZIC3 in ASD cerebellu …
OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant genetic hete …