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Auteur Suma JACOB |
Documents disponibles écrits par cet auteur (10)
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Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics / Suma JACOB in Autism Research, 2-6 (December 2009)
[article]
Titre : Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics Type de document : Texte imprimé et/ou numérique Auteurs : Suma JACOB, Auteur ; James F. LECKMAN, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur Année de publication : 2009 Article en page(s) : p.293-311 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive-compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive-compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual's mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions. En ligne : http://dx.doi.org/10.1002/aur.108 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968
in Autism Research > 2-6 (December 2009) . - p.293-311[article] Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics [Texte imprimé et/ou numérique] / Suma JACOB, Auteur ; James F. LECKMAN, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur . - 2009 . - p.293-311.
Langues : Anglais (eng)
in Autism Research > 2-6 (December 2009) . - p.293-311
Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive-compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive-compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual's mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions. En ligne : http://dx.doi.org/10.1002/aur.108 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968 A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma / Fabiola CERONI in Autism Research, 7-2 (April 2014)
[article]
Titre : A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma Type de document : Texte imprimé et/ou numérique Auteurs : Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur Article en page(s) : p.254-263 Mots-clés : autism CD38 oxytocin CNV fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230
in Autism Research > 7-2 (April 2014) . - p.254-263[article] A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma [Texte imprimé et/ou numérique] / Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur . - p.254-263.
in Autism Research > 7-2 (April 2014) . - p.254-263
Mots-clés : autism CD38 oxytocin CNV fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 Interface between Autism Spectrum Disorders and Obsessive-Compulsive Behaviors: A Genetic and Developmental Perspective / Suma JACOB
Titre : Interface between Autism Spectrum Disorders and Obsessive-Compulsive Behaviors: A Genetic and Developmental Perspective Type de document : Texte imprimé et/ou numérique Auteurs : Suma JACOB, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur ; James F. LECKMAN, Auteur Année de publication : 2011 Importance : p.285-303 Langues : Anglais (eng) 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=139 Interface between Autism Spectrum Disorders and Obsessive-Compulsive Behaviors: A Genetic and Developmental Perspective [Texte imprimé et/ou numérique] / Suma JACOB, Auteur ; Angeli LANDEROS-WEISENBERGER, Auteur ; James F. LECKMAN, Auteur . - 2011 . - p.285-303.
Langues : Anglais (eng)
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=139 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? / Lauren C. SHUFFREY in Autism Research, 10-8 (August 2017)
[article]
Titre : Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? Type de document : Texte imprimé et/ou numérique Auteurs : Lauren C. SHUFFREY, Auteur ; Stephen J. GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1417-1423 Langues : Anglais (eng) Mots-clés : serotonin 5-HT autism spectrum disorder hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P?=?0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310
in Autism Research > 10-8 (August 2017) . - p.1417-1423[article] Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder? [Texte imprimé et/ou numérique] / Lauren C. SHUFFREY, Auteur ; Stephen J. GUTER, Auteur ; Shannon DELANEY, Auteur ; Suma JACOB, Auteur ; George M. ANDERSON, Auteur ; James S. SUTCLIFFE, Auteur ; Edwin H. Jr COOK, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1417-1423.
Langues : Anglais (eng)
in Autism Research > 10-8 (August 2017) . - p.1417-1423
Mots-clés : serotonin 5-HT autism spectrum disorder hyperserotonemia Index. décimale : PER Périodiques Résumé : Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P?=?0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. En ligne : http://dx.doi.org/10.1002/aur.1791 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310 Large multicenter randomized trials in autism: key insights gained from the balovaptan clinical development program / Suma JACOB in Molecular Autism, 13 (2022)
Neuropeptide and steroid hormones / Suma JACOB
PermalinkOxytocin and vasopressin: Mechanisms for potential sex differences observed in ASD / C. Sue CARTER
PermalinkParental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin / Tal LEVIN-DECANINI in Autism Research, 6-6 (December 2013)
PermalinkA quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders / Soo-Jeong KIM in Molecular Autism, (May 2011)
PermalinkThe journey to autism: Insights from neuroimaging studies of infants and toddlers / Jason J. WOLFF in Development and Psychopathology, 30-2 (May 2018)
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