Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits / Li-Feng JIANG-XIE in Molecular Autism, (May 2014)  

Public ISBD [article]  inMolecular Autism > (May 2014) . - p.1-13 Titre : Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits Type de document : texte imprimé Auteurs : Li-Feng JIANG-XIE, Auteur ; Hsiao-Mei LIAO, Auteur ; Chia-Hsiang CHEN, Auteur ; Yuh-Tarng CHEN, Auteur ; Shih-Yin HO, Auteur ; Dai-Hua LU, Auteur ; Li-Jen LEE, Auteur ; Horng-Huei LIOU, Auteur ; Wen-Mei FU, Auteur ; Susan Shur-Fen GAU, Auteur Article en page(s) : p.1-13 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : As elegant structures designed for neural communication, synapses are the building bricks of our mental functions. Recently, many studies have pointed out that synaptic protein-associated mutations may lead to dysfunctions of social cognition. Dlgap2, which encodes one of the main components of scaffold proteins in postsynaptic density (PSD), has been addressed as a candidate gene in autism spectrum disorders. To elucidate the disturbance of synaptic balance arising from Dlgap2 loss-of-function in vivo, we thus generated Dlgap2 −/− mice to investigate their phenotypes of synaptic function and social behaviors. En ligne : http://dx.doi.org/10.1186/2040-2392-5-32 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits [texte imprimé] / Li-Feng JIANG-XIE, Auteur ; Hsiao-Mei LIAO, Auteur ; Chia-Hsiang CHEN, Auteur ; Yuh-Tarng CHEN, Auteur ; Shih-Yin HO, Auteur ; Dai-Hua LU, Auteur ; Li-Jen LEE, Auteur ; Horng-Huei LIOU, Auteur ; Wen-Mei FU, Auteur ; Susan Shur-Fen GAU, Auteur . - p.1-13. Langues : Anglais (eng) in Molecular Autism > (May 2014) . - p.1-13 Index. décimale : PER Périodiques Résumé : As elegant structures designed for neural communication, synapses are the building bricks of our mental functions. Recently, many studies have pointed out that synaptic protein-associated mutations may lead to dysfunctions of social cognition. Dlgap2, which encodes one of the main components of scaffold proteins in postsynaptic density (PSD), has been addressed as a candidate gene in autism spectrum disorders. To elucidate the disturbance of synaptic balance arising from Dlgap2 loss-of-function in vivo, we thus generated Dlgap2 −/− mice to investigate their phenotypes of synaptic function and social behaviors. En ligne : http://dx.doi.org/10.1186/2040-2392-5-32 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders / Wei-Hsien CHIEN in Molecular Autism, (August 2013)  

Public ISBD [article]  inMolecular Autism > (August 2013) . - 23 p. Titre : Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders Type de document : texte imprimé Auteurs : Wei-Hsien CHIEN, Auteur ; Susan Shur-Fen GAU, Auteur ; Hsiao-Mei LIAO, Auteur ; Yen-Nan CHIU, Auteur ; Yu-Yu WU, Auteur ; Yu-Shu HUANG, Auteur ; Wen-Che TSAI, Auteur ; Ho-Min TSAI, Auteur ; Chia-Hsiang CHEN, Auteur Année de publication : 2013 Article en page(s) : 23 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background We recently reported a terminal deletion of approximately 2.4 Mb at chromosome 8p23.2-pter in a boy with autism. The deleted region contained the DLGAP2 gene that encodes the neuronal post-synaptic density protein, discs, large (Drosophila) homolog-associated protein 2. The study aimed to investigate whether DLGAP2 is genetically associated with autism spectrum disorders (ASD) in general. Methods We re-sequenced all the exons of DLGPA2 in 515 patients with ASD and 596 control subjects from Taiwan. We also conducted bioinformatic analysis and family study of variants identified in this study. Results We detected nine common single nucleotide polymorphisms (SNPs) and sixteen novel missense rare variants in this sample. We found that AA homozygotes of rs2906569 (minor allele G, alternate allele A) at intron 1 (P = 0.003) and CC homozygotes of rs2301963 (minor allele A, alternate allele C) at exon 3 (P = 0.0003) were significantly over-represented in the patient group compared to the controls. We also found no differences in the combined frequency of rare missense variants between the two groups. Some of these rare variants were predicted to have an impact on the function of DLGAP2 using informatics analysis, and the family study revealed most of the rare missense mutations in patients were inherited from their unaffected parents. Conclusions We detected some common and rare genetic variants of DLGAP2 that might have implication in the pathogenesis of ASD, but they alone may not be sufficient to lead to clinical phenotypes. We suggest that further genetic or environmental factors in affected patients may be present and determine the clinical manifestations. Trial registration ClinicalTrial.gov, NCT00494754 En ligne : http://dx.doi.org/10.1186/2040-2392-4-26 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211 [article] Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders [texte imprimé] / Wei-Hsien CHIEN, Auteur ; Susan Shur-Fen GAU, Auteur ; Hsiao-Mei LIAO, Auteur ; Yen-Nan CHIU, Auteur ; Yu-Yu WU, Auteur ; Yu-Shu HUANG, Auteur ; Wen-Che TSAI, Auteur ; Ho-Min TSAI, Auteur ; Chia-Hsiang CHEN, Auteur . - 2013 . - 23 p. Langues : Anglais (eng) in Molecular Autism > (August 2013) . - 23 p. Index. décimale : PER Périodiques Résumé : Background We recently reported a terminal deletion of approximately 2.4 Mb at chromosome 8p23.2-pter in a boy with autism. The deleted region contained the DLGAP2 gene that encodes the neuronal post-synaptic density protein, discs, large (Drosophila) homolog-associated protein 2. The study aimed to investigate whether DLGAP2 is genetically associated with autism spectrum disorders (ASD) in general. Methods We re-sequenced all the exons of DLGPA2 in 515 patients with ASD and 596 control subjects from Taiwan. We also conducted bioinformatic analysis and family study of variants identified in this study. Results We detected nine common single nucleotide polymorphisms (SNPs) and sixteen novel missense rare variants in this sample. We found that AA homozygotes of rs2906569 (minor allele G, alternate allele A) at intron 1 (P = 0.003) and CC homozygotes of rs2301963 (minor allele A, alternate allele C) at exon 3 (P = 0.0003) were significantly over-represented in the patient group compared to the controls. We also found no differences in the combined frequency of rare missense variants between the two groups. Some of these rare variants were predicted to have an impact on the function of DLGAP2 using informatics analysis, and the family study revealed most of the rare missense mutations in patients were inherited from their unaffected parents. Conclusions We detected some common and rare genetic variants of DLGAP2 that might have implication in the pathogenesis of ASD, but they alone may not be sufficient to lead to clinical phenotypes. We suggest that further genetic or environmental factors in affected patients may be present and determine the clinical manifestations. Trial registration ClinicalTrial.gov, NCT00494754 En ligne : http://dx.doi.org/10.1186/2040-2392-4-26 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211

Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders / Chia-Hsiang CHEN in Molecular Autism, (June 2014)  

Public ISBD [article]  inMolecular Autism > (June 2014) . - p.1-13 Titre : Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders Type de document : texte imprimé Auteurs : Chia-Hsiang CHEN, Auteur ; Chia-Chun HUANG, Auteur ; Min-Chih CHENG, Auteur ; Yen-Nan CHIU, Auteur ; Wen-Che TSAI, Auteur ; Yu-Yu WU, Auteur ; Shih-Kai LIU, Auteur ; Susan Shur-Fen GAU, Auteur Article en page(s) : p.1-13 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : GABRB3 is a position candidate gene at chromosome 15q12 that has been implicated in the neurobiology of autism spectrum disorders (ASD). The aim of this study was to examine the genetic association of GABRB3 with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-36 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders [texte imprimé] / Chia-Hsiang CHEN, Auteur ; Chia-Chun HUANG, Auteur ; Min-Chih CHENG, Auteur ; Yen-Nan CHIU, Auteur ; Wen-Che TSAI, Auteur ; Yu-Yu WU, Auteur ; Shih-Kai LIU, Auteur ; Susan Shur-Fen GAU, Auteur . - p.1-13. Langues : Anglais (eng) in Molecular Autism > (June 2014) . - p.1-13 Index. décimale : PER Périodiques Résumé : GABRB3 is a position candidate gene at chromosome 15q12 that has been implicated in the neurobiology of autism spectrum disorders (ASD). The aim of this study was to examine the genetic association of GABRB3 with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-36 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)  

Public ISBD [article]  inAutism Research > 9-3 (March 2016) . - p.340-349 Titre : Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations Type de document : texte imprimé 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 [article] Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations [texte imprimé] / 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

Impairment of social behaviors in Arhgef10 knockout mice / Dai-Hua LU in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 11p. Titre : Impairment of social behaviors in Arhgef10 knockout mice Type de document : texte imprimé Auteurs : Dai-Hua LU, Auteur ; Hsiao-Mei LIAO, Auteur ; Chia-Hsiang CHEN, Auteur ; Huang-Ju TU, Auteur ; Houng-Chi LIOU, Auteur ; Susan Shur-Fen GAU, Auteur ; Wen-Mei FU, Auteur Article en page(s) : 11p. Langues : Anglais (eng) Mots-clés : Arhgef10  Autism spectrum disorder  Norepinephrine  Serotonin  Social deficits Index. décimale : PER Périodiques Résumé : Background: Impaired social interaction is one of the essential features of autism spectrum disorder (ASD). Our previous copy number variation (CNV) study discovered a novel deleted region associated with ASD. One of the genes included in the deleted region is ARHGEF10. A missense mutation of ARHGEF10 has been reported to be one of the contributing factors in several diseases of the central nervous system. However, the relationship between the loss of ARHGEF10 and the clinical symptoms of ASD is unclear. Methods: We generated Arhgef10 knockout mice as a model of ASD and characterized the social behavior and the biochemical changes in the brains of the knockout mice. Results: Compared with their wild-type littermates, the Arhgef10-depleted mice showed social interaction impairment, hyperactivity, and decreased depression-like and anxiety-like behavior. Behavioral measures of learning in the Morris water maze were not affected by Arhgef10 deficiency. Moreover, neurotransmitters including serotonin, norepinephrine, and dopamine were significantly increased in different brain regions of the Arhgef10 knockout mice. In addition, monoamine oxidase A (MAO-A) decreased in several brain regions. Conclusions: These results suggest that ARHGEF10 is a candidate risk gene for ASD and that the Arhgef10 knockout model could be a tool for studying the mechanisms of neurotransmission in ASD. Trial registration: Animal studies were approved by the Institutional Animal Care and Use Committee of National Taiwan University (IACUC 20150023). Registered 1 August 2015. En ligne : http://dx.doi.org/10.1186/s13229-018-0197-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354 [article] Impairment of social behaviors in Arhgef10 knockout mice [texte imprimé] / Dai-Hua LU, Auteur ; Hsiao-Mei LIAO, Auteur ; Chia-Hsiang CHEN, Auteur ; Huang-Ju TU, Auteur ; Houng-Chi LIOU, Auteur ; Susan Shur-Fen GAU, Auteur ; Wen-Mei FU, Auteur . - 11p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 11p. Mots-clés : Arhgef10  Autism spectrum disorder  Norepinephrine  Serotonin  Social deficits Index. décimale : PER Périodiques Résumé : Background: Impaired social interaction is one of the essential features of autism spectrum disorder (ASD). Our previous copy number variation (CNV) study discovered a novel deleted region associated with ASD. One of the genes included in the deleted region is ARHGEF10. A missense mutation of ARHGEF10 has been reported to be one of the contributing factors in several diseases of the central nervous system. However, the relationship between the loss of ARHGEF10 and the clinical symptoms of ASD is unclear. Methods: We generated Arhgef10 knockout mice as a model of ASD and characterized the social behavior and the biochemical changes in the brains of the knockout mice. Results: Compared with their wild-type littermates, the Arhgef10-depleted mice showed social interaction impairment, hyperactivity, and decreased depression-like and anxiety-like behavior. Behavioral measures of learning in the Morris water maze were not affected by Arhgef10 deficiency. Moreover, neurotransmitters including serotonin, norepinephrine, and dopamine were significantly increased in different brain regions of the Arhgef10 knockout mice. In addition, monoamine oxidase A (MAO-A) decreased in several brain regions. Conclusions: These results suggest that ARHGEF10 is a candidate risk gene for ASD and that the Arhgef10 knockout model could be a tool for studying the mechanisms of neurotransmission in ASD. Trial registration: Animal studies were approved by the Institutional Animal Care and Use Committee of National Taiwan University (IACUC 20150023). Registered 1 August 2015. En ligne : http://dx.doi.org/10.1186/s13229-018-0197-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354

Increased gene expression of FOXP1 in patients with autism spectrum disorders / Wei-Hsien CHIEN in Molecular Autism, (July 2013)  

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