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Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder / Kumiko YANAGI in Autism Research and Treatment, (May 2012)
[article]
Titre : Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Kumiko YANAGI, Auteur ; Tadashi KANAME, Auteur ; Keiko WAKUI, Auteur ; Ohiko HASHIMOTO, Auteur ; Yoshimitsu FUKUSHIMA, Auteur ; Kenji NARITOMI, Auteur Année de publication : 2012 Article en page(s) : 5 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Mutations in the X-linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered. En ligne : http://dx.doi.org/10.1155/2012/724072 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=179
in Autism Research and Treatment > (May 2012) . - 5 p.[article] Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder [Texte imprimé et/ou numérique] / Kumiko YANAGI, Auteur ; Tadashi KANAME, Auteur ; Keiko WAKUI, Auteur ; Ohiko HASHIMOTO, Auteur ; Yoshimitsu FUKUSHIMA, Auteur ; Kenji NARITOMI, Auteur . - 2012 . - 5 p.
Langues : Anglais (eng)
in Autism Research and Treatment > (May 2012) . - 5 p.
Index. décimale : PER Périodiques Résumé : Mutations in the X-linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered. En ligne : http://dx.doi.org/10.1155/2012/724072 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=179 Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder / Paula S. RAMOS in Molecular Autism, (June 2012)
[article]
Titre : Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Paula S. RAMOS, Auteur ; Satria SAJUTHI, Auteur ; Carl D. LANGEFELD, Auteur ; Stephen J. WALKER, Auteur Année de publication : 2012 Article en page(s) : 11 p. Langues : Anglais (eng) Mots-clés : Immunologie Index. décimale : PER Périodiques Résumé : Background
A growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder (ASD) children. Here we test the hypothesis that immune-related gene loci are associated with ASD. Findings We identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region (CD99L2, rs11796490, P = 4.01 x 10-06, OR = 0.68 (0.58-0.80)), in the jumonji AT rich interactive domain 2 (JARID2) gene (rs13193457, P = 2.71 x 10-06, OR = 0.61 (0.49-0.75)), and in the thyroid peroxidase gene (TPO) (rs1514687, P = 5.72 x 10-06, OR = 1.46 (1.24- 1.72)).
Conclusions
This study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.En ligne : http://dx.doi.org/10.1186/2040-2392-3-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178
in Molecular Autism > (June 2012) . - 11 p.[article] Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder [Texte imprimé et/ou numérique] / Paula S. RAMOS, Auteur ; Satria SAJUTHI, Auteur ; Carl D. LANGEFELD, Auteur ; Stephen J. WALKER, Auteur . - 2012 . - 11 p.
Langues : Anglais (eng)
in Molecular Autism > (June 2012) . - 11 p.
Mots-clés : Immunologie Index. décimale : PER Périodiques Résumé : Background
A growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder (ASD) children. Here we test the hypothesis that immune-related gene loci are associated with ASD. Findings We identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region (CD99L2, rs11796490, P = 4.01 x 10-06, OR = 0.68 (0.58-0.80)), in the jumonji AT rich interactive domain 2 (JARID2) gene (rs13193457, P = 2.71 x 10-06, OR = 0.61 (0.49-0.75)), and in the thyroid peroxidase gene (TPO) (rs1514687, P = 5.72 x 10-06, OR = 1.46 (1.24- 1.72)).
Conclusions
This study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.En ligne : http://dx.doi.org/10.1186/2040-2392-3-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 L’incidence des nouvelles connaissances génétiques et les nouveaux dialogues / François VITTECOQ
Titre : L’incidence des nouvelles connaissances génétiques et les nouveaux dialogues Type de document : Texte imprimé et/ou numérique Auteurs : François VITTECOQ, Auteur Année de publication : 1999 Importance : p.399-421 Langues : Français (fre) Index. décimale : HAN-A HAN-A - Handicap - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206 L’incidence des nouvelles connaissances génétiques et les nouveaux dialogues [Texte imprimé et/ou numérique] / François VITTECOQ, Auteur . - 1999 . - p.399-421.
Langues : Français (fre)
Index. décimale : HAN-A HAN-A - Handicap - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Intégrer l’hétérogénéité clinique et génétique dans l’autisme / Michael L. CUCCARO
Titre : Intégrer l’hétérogénéité clinique et génétique dans l’autisme Type de document : Texte imprimé et/ou numérique Auteurs : Michael L. CUCCARO, Auteur Année de publication : 2005 Importance : p.129-144 Langues : Français (fre) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=193 Intégrer l’hétérogénéité clinique et génétique dans l’autisme [Texte imprimé et/ou numérique] / Michael L. CUCCARO, Auteur . - 2005 . - p.129-144.
Langues : Français (fre)
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=193 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Interaction between Genetic Vulnerability and Neurosteroids in Purkinje cells as a Possible Neurobiological Mechanism in Autism Spectrum Disorders / Flavio KELLER
Titre : Interaction between Genetic Vulnerability and Neurosteroids in Purkinje cells as a Possible Neurobiological Mechanism in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Flavio KELLER, Auteur ; Roger PANTERI, Auteur ; Filippo BIAMONTE, Auteur Année de publication : 2008 Importance : p.209-231 Langues : Anglais (eng) Mots-clés : Genre Neurosteroïdes Cellule de Purkinje Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=704 Interaction between Genetic Vulnerability and Neurosteroids in Purkinje cells as a Possible Neurobiological Mechanism in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Flavio KELLER, Auteur ; Roger PANTERI, Auteur ; Filippo BIAMONTE, Auteur . - 2008 . - p.209-231.
Langues : Anglais (eng)
Mots-clés : Genre Neurosteroïdes Cellule de Purkinje Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=704 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Interaction of dopamine transporter (DAT1) genotype and maltreatment for ADHD: a latent class analysis / James J. LI in Journal of Child Psychology and Psychiatry, 53-9 (September 2012)
PermalinkInteractions gènes-environnement dans la pathogénie / Marcello D’AMELIO
PermalinkInterparental conflict, parent psychopathology, hostile parenting, and child antisocial behavior: Examining the role of maternal versus paternal influences using a novel genetically sensitive research design / Gordon T. HAROLD in Development and Psychopathology, 24-4 (November 2012)
PermalinkIntroduction / Mary COLEMAN
PermalinkIs Autism a Common Personality Trait? / John N. CONSTANTINO
PermalinkIs Autism a Member of a Family of Diseases Resulting from Genetic/Cultural Mismatches? Implications for Treatment and Prevention / Staci D. BILBO in Autism Research and Treatment, (April 2012)
PermalinkLettre à des parents à bout de souffle / Eve NICOLAS
PermalinkLexical decision as an endophenotype for reading comprehension: An exploration of an association / Adam J. NAPLES in Development and Psychopathology, 24-4 (November 2012)
PermalinkLiens entre gènes, cerveau, cognition et comportement social: L’apport du syndrome de Williams / Andreia SANTOS
PermalinkLinking behaviour, brain, and genes in two different genetic syndromes / Ursula BELLUGI
PermalinkLinking prenatal maternal adversity to developmental outcomes in infants: The role of epigenetic pathways / Catherine MONK in Development and Psychopathology, 24-4 (November 2012)
PermalinkLoci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci / Lea K. DAVIS in Molecular Autism, (May 2012)
PermalinkLPHN3 and attention-deficit/hyperactivity disorder: interaction with maternal stress during pregnancy / Zia CHOUDHRY in Journal of Child Psychology and Psychiatry, 53-8 (August 2012)
PermalinkMale Gender Bias in Autism and Pediatric Autoimmunity / Kevin G. BECKER in Autism Research, 5-2 (April 2012)
PermalinkMédecine et santé de l'adolescent / Priscille GERARDIN
PermalinkMedical Issues / Fred R. VOLKMAR
PermalinkMedical needs of the autistic adolescent / Joanna S. DALLDORF
PermalinkMendel, le chromosome X et le garçon autiste / Claude MORAINE
PermalinkMéthodologies génétiques et protéines synaptiques dans l’autisme infantile / Stéphane JAMAIN
PermalinkMon combat pour les enfants autistes / Bernard GOLSE
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