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 et/ou numérique 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 et/ou numérique] / 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 et/ou numérique 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 et/ou numérique] / 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 et/ou numérique 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 et/ou numérique] / 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 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 [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

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

Public ISBD [article]  inMolecular Autism > (July 2013) . - 8 p. Titre : Increased gene expression of FOXP1 in patients with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Wei-Hsien CHIEN, Auteur ; Susan Shur-Fen GAU, Auteur ; Chun-Houh CHEN, Auteur ; Wen-Che TSAI, Auteur ; Yu-Yu WU, Auteur ; Po-Hsu CHEN, Auteur ; Chi-Yung SHANG, Auteur ; Chia-Hsiang CHEN, Auteur Année de publication : 2013 Article en page(s) : 8 p. Langues : Anglais (eng) Mots-clés : Autism  FOXP1  Expression microarray  Genetics  Lymphoblastoid cell line Index. décimale : PER Périodiques Résumé : Background Comparative gene expression profiling analysis is useful in discovering differentially expressed genes associated with various diseases, including mental disorders. Autism spectrum disorders (ASD) are a group of complex childhood-onset neurodevelopmental and genetic disorders characterized by deficits in language development and verbal communication, impaired reciprocal social interaction, and the presence of repetitive behaviors or restricted interests. The study aimed to identify novel genes associated with the pathogenesis of ASD. Methods We conducted comparative total gene expression profiling analysis of lymphoblastoid cell lines (LCL) between 16 male patients with ASD and 16 male control subjects to screen differentially expressed genes associated with ASD. We verified one of the differentially expressed genes, FOXP1, using real-time quantitative PCR (RT-qPCR) in a sample of 83 male patients and 83 male controls that included the initial 16 male patients and male controls, respectively. Results A total of 252 differentially expressed probe sets representing 202 genes were detected between the two groups, including 89 up- and 113 downregulated genes in the ASD group. RT-qPCR verified significant elevation of the FOXP1 gene transcript of LCL in a sample of 83 male patients (10.46 ± 11.34) compared with 83 male controls (5.17 ± 8.20, P = 0.001). Conclusions Comparative gene expression profiling analysis of LCL is useful in discovering novel genetic markers associated with ASD. Elevated gene expression of FOXP1 might contribute to the pathogenesis of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211 [article] Increased gene expression of FOXP1 in patients with autism spectrum disorders [Texte imprimé et/ou numérique] / Wei-Hsien CHIEN, Auteur ; Susan Shur-Fen GAU, Auteur ; Chun-Houh CHEN, Auteur ; Wen-Che TSAI, Auteur ; Yu-Yu WU, Auteur ; Po-Hsu CHEN, Auteur ; Chi-Yung SHANG, Auteur ; Chia-Hsiang CHEN, Auteur . - 2013 . - 8 p. Langues : Anglais (eng) in Molecular Autism > (July 2013) . - 8 p. Mots-clés : Autism  FOXP1  Expression microarray  Genetics  Lymphoblastoid cell line Index. décimale : PER Périodiques Résumé : Background Comparative gene expression profiling analysis is useful in discovering differentially expressed genes associated with various diseases, including mental disorders. Autism spectrum disorders (ASD) are a group of complex childhood-onset neurodevelopmental and genetic disorders characterized by deficits in language development and verbal communication, impaired reciprocal social interaction, and the presence of repetitive behaviors or restricted interests. The study aimed to identify novel genes associated with the pathogenesis of ASD. Methods We conducted comparative total gene expression profiling analysis of lymphoblastoid cell lines (LCL) between 16 male patients with ASD and 16 male control subjects to screen differentially expressed genes associated with ASD. We verified one of the differentially expressed genes, FOXP1, using real-time quantitative PCR (RT-qPCR) in a sample of 83 male patients and 83 male controls that included the initial 16 male patients and male controls, respectively. Results A total of 252 differentially expressed probe sets representing 202 genes were detected between the two groups, including 89 up- and 113 downregulated genes in the ASD group. RT-qPCR verified significant elevation of the FOXP1 gene transcript of LCL in a sample of 83 male patients (10.46 ± 11.34) compared with 83 male controls (5.17 ± 8.20, P = 0.001). Conclusions Comparative gene expression profiling analysis of LCL is useful in discovering novel genetic markers associated with ASD. Elevated gene expression of FOXP1 might contribute to the pathogenesis of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211

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