Addendum : Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism / Zohreh TALEBIZADEH in Autism Research, 1-5 (October 2008)  

Public ISBD [article]  inAutism Research > 1-5 (October 2008) . - p.307 Titre : Addendum : Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism Type de document : Texte imprimé et/ou numérique Auteurs : Zohreh TALEBIZADEH, Auteur ; Merlin G. BUTLER, Auteur ; Mariana F. THEODORO, Auteur Année de publication : 2008 Article en page(s) : p.307 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.46 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=933 [article] Addendum : Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism [Texte imprimé et/ou numérique] / Zohreh TALEBIZADEH, Auteur ; Merlin G. BUTLER, Auteur ; Mariana F. THEODORO, Auteur . - 2008 . - p.307. Langues : Anglais (eng) in Autism Research > 1-5 (October 2008) . - p.307 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.46 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=933

Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry / Merlin G. BUTLER in Autism Research and Treatment, (March 2012)  

Public ISBD [article]  inAutism Research and Treatment > (March 2012) . - 11 p. Titre : Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry Type de document : Texte imprimé et/ou numérique Auteurs : Merlin G. BUTLER, Auteur ; Erin L. YOUNGS, Auteur ; Jennifer L. ROBERTS, Auteur ; Jessica A. HELLINGS, Auteur Année de publication : 2012 Article en page(s) : 11 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient. En ligne : http://dx.doi.org/10.1155/2012/242537 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry [Texte imprimé et/ou numérique] / Merlin G. BUTLER, Auteur ; Erin L. YOUNGS, Auteur ; Jennifer L. ROBERTS, Auteur ; Jessica A. HELLINGS, Auteur . - 2012 . - 11 p. Langues : Anglais (eng) in Autism Research and Treatment > (March 2012) . - 11 p. Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient. En ligne : http://dx.doi.org/10.1155/2012/242537 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism / Zohreh TALEBIZADEH in Autism Research, 1-4 (August 2008)  

Public ISBD [article]  inAutism Research > 1-4 (August 2008) . - p.240-250 Titre : Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism Type de document : Texte imprimé et/ou numérique Auteurs : Zohreh TALEBIZADEH, Auteur ; Merlin G. BUTLER, Auteur ; Mariana F. THEODORO, Auteur Année de publication : 2008 Article en page(s) : p.240-250 Langues : Anglais (eng) Mots-clés : microRNA autism lymphoblastoid-cell-lines differential-expression Index. décimale : PER Périodiques Résumé : To assess the feasibility and relevance of using lymphoblastoid cell lines to study the role of noncoding RNAs in the etiology of autism, we evaluated global expression profiling of 470 mature human microRNAs from six subjects with autism compared with six matched controls. Differential expression (either higher or lower) for 9 of the 470 microRNAs was observed in our autism samples compared with controls. Potential target genes for these microRNAs were identified using computer tools, which included several autism susceptibility genes. Our preliminary results indicate microRNAs should be considered and evaluated in the etiology of autism. In addition, analysis of this class of noncoding RNAs in lymphoblastoid cells has the potential to reveal at least a subset of brain-related microRNAs implicated in autism. Subsequently, this model system should allow for detection of complex subtle changes in susceptibility genes/pathways contributing to autism. En ligne : http://dx.doi.org/10.1002/aur.33 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932 [article] Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism [Texte imprimé et/ou numérique] / Zohreh TALEBIZADEH, Auteur ; Merlin G. BUTLER, Auteur ; Mariana F. THEODORO, Auteur . - 2008 . - p.240-250. Langues : Anglais (eng) in Autism Research > 1-4 (August 2008) . - p.240-250 Mots-clés : microRNA autism lymphoblastoid-cell-lines differential-expression Index. décimale : PER Périodiques Résumé : To assess the feasibility and relevance of using lymphoblastoid cell lines to study the role of noncoding RNAs in the etiology of autism, we evaluated global expression profiling of 470 mature human microRNAs from six subjects with autism compared with six matched controls. Differential expression (either higher or lower) for 9 of the 470 microRNAs was observed in our autism samples compared with controls. Potential target genes for these microRNAs were identified using computer tools, which included several autism susceptibility genes. Our preliminary results indicate microRNAs should be considered and evaluated in the etiology of autism. In addition, analysis of this class of noncoding RNAs in lymphoblastoid cells has the potential to reveal at least a subset of brain-related microRNAs implicated in autism. Subsequently, this model system should allow for detection of complex subtle changes in susceptibility genes/pathways contributing to autism. En ligne : http://dx.doi.org/10.1002/aur.33 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932

TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome / Elisabeth M. DYKENS in Journal of Child Psychology and Psychiatry, 52-5 (May 2011)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 52-5 (May 2011) . - p.580-587 Titre : TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Douglas BITTEL, Auteur ; Merlin G. BUTLER, Auteur Année de publication : 2011 Article en page(s) : p.580-587 Langues : Anglais (eng) Mots-clés : Behavior problems  genetics  intelligence  internalizing disorder  neurochemistry  Prader–Willi syndrome Index. décimale : PER Périodiques Résumé : Background:  Prader–Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of serotonin in the brain. Methods:  Ninety-two individuals with PWS aged 4 to 50 years (M = 21.97) were genotyped for the TPH2 G703-T polymorphism. IQ testing was conducted in offspring, and parents completed questionnaires that tapped their child’s compulsivity, hyperphagia, and other behavior problems. Results:  As expected, the frequency of G/T or T/T polymorphisms in participants with PWS (39%) was similar to rates found in the general population (38%). Compared to those with a homozygous (G/G) genotype, individuals with a T allele had significantly higher hyperphagic behavior, drive, and severity scores, and they also had a younger age of onset of hyperphagia. Those with a T allele also had higher IQ scores than their counterparts. Females with a T allele had significantly higher internalizing symptoms, primarily anxiety and depression, than all others. Conclusions:  TPH2 G/T polymorphisms, and presumed loss of enzyme function, were associated with specific aspects of the PWS phenotype. Aberrant serotonergic functioning is strongly implicated in hyperphagia in PWS, and females with TPH2 T alleles may be at higher risk for affective or mood disorders. Findings hold promise for examining other serotonin-altering genes in PWS, and for future serotonin-altering treatment trials. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02365.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome [Texte imprimé et/ou numérique] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Douglas BITTEL, Auteur ; Merlin G. BUTLER, Auteur . - 2011 . - p.580-587. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 52-5 (May 2011) . - p.580-587 Mots-clés : Behavior problems  genetics  intelligence  internalizing disorder  neurochemistry  Prader–Willi syndrome Index. décimale : PER Périodiques Résumé : Background:  Prader–Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of serotonin in the brain. Methods:  Ninety-two individuals with PWS aged 4 to 50 years (M = 21.97) were genotyped for the TPH2 G703-T polymorphism. IQ testing was conducted in offspring, and parents completed questionnaires that tapped their child’s compulsivity, hyperphagia, and other behavior problems. Results:  As expected, the frequency of G/T or T/T polymorphisms in participants with PWS (39%) was similar to rates found in the general population (38%). Compared to those with a homozygous (G/G) genotype, individuals with a T allele had significantly higher hyperphagic behavior, drive, and severity scores, and they also had a younger age of onset of hyperphagia. Those with a T allele also had higher IQ scores than their counterparts. Females with a T allele had significantly higher internalizing symptoms, primarily anxiety and depression, than all others. Conclusions:  TPH2 G/T polymorphisms, and presumed loss of enzyme function, were associated with specific aspects of the PWS phenotype. Aberrant serotonergic functioning is strongly implicated in hyperphagia in PWS, and females with TPH2 T alleles may be at higher risk for affective or mood disorders. Findings hold promise for examining other serotonin-altering genes in PWS, and for future serotonin-altering treatment trials. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02365.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

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