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Auteur Motoko MAEKAWA |
Documents disponibles écrits par cet auteur (2)
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Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects / Shabeesh BALAN in Molecular Autism, (October 2014)
[article]
Titre : Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects Type de document : Texte imprimé et/ou numérique Auteurs : Shabeesh BALAN, Auteur ; Yoshimi IWAYAMA, Auteur ; Motoko MAEKAWA, Auteur ; Tomoko TOYOTA, Auteur ; Tetsuo OHNISHI, Auteur ; Manabu TOYOSHIMA, Auteur ; Chie SHIMAMOTO, Auteur ; Kayoko ESAKI, Auteur ; Kazuo YAMADA, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Masayuki IDE, Auteur ; Motonori OTA, Auteur ; Satoshi FUKUCHI, Auteur ; Masatsugu TSUJII, Auteur ; Norio MORI, Auteur ; Yoichi SHINKAI, Auteur ; Takeo YOSHIKAWA, Auteur Article en page(s) : p.1-9 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Histone H3 methylation at lysine 9 (H3K9) is a conserved epigenetic signal, mediating heterochromatin formation by trimethylation, and transcriptional silencing by dimethylation. Defective GLP (Ehmt1) and G9a (Ehmt2) histone lysine methyltransferases, involved in mono and dimethylation of H3K9, confer autistic phenotypes and behavioral abnormalities in animal models. Moreover, EHMT1 loss of function results in Kleefstra syndrome, characterized by severe intellectual disability, developmental delays and psychiatric disorders. We examined the possible role of histone methyltransferases in the etiology of autism spectrum disorders (ASD) and suggest that rare functional variants in these genes that regulate H3K9 methylation may be associated with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-49 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276
in Molecular Autism > (October 2014) . - p.1-9[article] Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects [Texte imprimé et/ou numérique] / Shabeesh BALAN, Auteur ; Yoshimi IWAYAMA, Auteur ; Motoko MAEKAWA, Auteur ; Tomoko TOYOTA, Auteur ; Tetsuo OHNISHI, Auteur ; Manabu TOYOSHIMA, Auteur ; Chie SHIMAMOTO, Auteur ; Kayoko ESAKI, Auteur ; Kazuo YAMADA, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Masayuki IDE, Auteur ; Motonori OTA, Auteur ; Satoshi FUKUCHI, Auteur ; Masatsugu TSUJII, Auteur ; Norio MORI, Auteur ; Yoichi SHINKAI, Auteur ; Takeo YOSHIKAWA, Auteur . - p.1-9.
Langues : Anglais (eng)
in Molecular Autism > (October 2014) . - p.1-9
Index. décimale : PER Périodiques Résumé : Histone H3 methylation at lysine 9 (H3K9) is a conserved epigenetic signal, mediating heterochromatin formation by trimethylation, and transcriptional silencing by dimethylation. Defective GLP (Ehmt1) and G9a (Ehmt2) histone lysine methyltransferases, involved in mono and dimethylation of H3K9, confer autistic phenotypes and behavioral abnormalities in animal models. Moreover, EHMT1 loss of function results in Kleefstra syndrome, characterized by severe intellectual disability, developmental delays and psychiatric disorders. We examined the possible role of histone methyltransferases in the etiology of autism spectrum disorders (ASD) and suggest that rare functional variants in these genes that regulate H3K9 methylation may be associated with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-49 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations / Xiaoxi LIU in Autism Research, 9-3 (March 2016)
[article]
Titre : Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations Type de document : Texte imprimé et/ou numérique Auteurs : Xiaoxi LIU, Auteur ; Takafumi SHIMADA, Auteur ; Takeshi OTOWA, Auteur ; Yu-Yu WU, Auteur ; Yoshiya KAWAMURA, Auteur ; Mamoru TOCHIGI, Auteur ; Yasuhide IWATA, Auteur ; Tadashi UMEKAGE, Auteur ; Tomoko TOYOTA, Auteur ; Motoko MAEKAWA, Auteur ; Yoshimi IWAYAMA, Auteur ; Katsuaki SUZUKI, Auteur ; Chihiro KAKIUCHI, Auteur ; Hitoshi KUWABARA, Auteur ; Yukiko KANO, Auteur ; Hisami NISHIDA, Auteur ; Toshiro SUGIYAMA, Auteur ; Nobumasa KATO, Auteur ; Chia-Hsiang CHEN, Auteur ; Norio MORI, Auteur ; Kazuo YAMADA, Auteur ; Takeo YOSHIKAWA, Auteur ; Kiyoto KASAI, Auteur ; Katsushi TOKUNAGA, Auteur ; Tsukasa SASAKI, Auteur ; Susan Shur-Fen GAU, Auteur Article en page(s) : p.340-349 Langues : Anglais (eng) Mots-clés : autism autism spectrum disorder genome-wide association study genetics common variation Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n?=?500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n?=?1,254), were genotyped by TaqMan platform. Case–control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese replication samples, the strongest signal was found at rs16976358 (P?=?6.04 × 10?7), which is located near the RIT2 gene. In summary, our results provide independent support to known ASD candidate genes and highlight a number of novel genes warranted to be further investigated in a larger sample set in an effort to improve our understanding of the genetic basis of ASD. Autism Res 2016, 9: 340–349. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1536 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=285
in Autism Research > 9-3 (March 2016) . - p.340-349[article] Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations [Texte imprimé et/ou numérique] / Xiaoxi LIU, Auteur ; Takafumi SHIMADA, Auteur ; Takeshi OTOWA, Auteur ; Yu-Yu WU, Auteur ; Yoshiya KAWAMURA, Auteur ; Mamoru TOCHIGI, Auteur ; Yasuhide IWATA, Auteur ; Tadashi UMEKAGE, Auteur ; Tomoko TOYOTA, Auteur ; Motoko MAEKAWA, Auteur ; Yoshimi IWAYAMA, Auteur ; Katsuaki SUZUKI, Auteur ; Chihiro KAKIUCHI, Auteur ; Hitoshi KUWABARA, Auteur ; Yukiko KANO, Auteur ; Hisami NISHIDA, Auteur ; Toshiro SUGIYAMA, Auteur ; Nobumasa KATO, Auteur ; Chia-Hsiang CHEN, Auteur ; Norio MORI, Auteur ; Kazuo YAMADA, Auteur ; Takeo YOSHIKAWA, Auteur ; Kiyoto KASAI, Auteur ; Katsushi TOKUNAGA, Auteur ; Tsukasa SASAKI, Auteur ; Susan Shur-Fen GAU, Auteur . - p.340-349.
Langues : Anglais (eng)
in Autism Research > 9-3 (March 2016) . - p.340-349
Mots-clés : autism autism spectrum disorder genome-wide association study genetics common variation Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n?=?500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n?=?1,254), were genotyped by TaqMan platform. Case–control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese replication samples, the strongest signal was found at rs16976358 (P?=?6.04 × 10?7), which is located near the RIT2 gene. In summary, our results provide independent support to known ASD candidate genes and highlight a number of novel genes warranted to be further investigated in a larger sample set in an effort to improve our understanding of the genetic basis of ASD. Autism Res 2016, 9: 340–349. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1536 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=285