Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur Vidya RAJESH |
Documents disponibles écrits par cet auteur (2)
Faire une suggestion Affiner la recherche
Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients / Mahesh Kumar KALIKIRI in Autism Research, 10-12 (December 2017)
[article]
Titre : Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients Type de document : Texte imprimé et/ou numérique Auteurs : Mahesh Kumar KALIKIRI, Auteur ; Madhu Poornima MAMIDALA, Auteur ; Ananth N. RAO, Auteur ; Vidya RAJESH, Auteur Article en page(s) : p.1919-1928 Langues : Anglais (eng) Mots-clés : autism spectral disorder (ASD) thyroid hormone receptors single nucleotide polymorphism trans-activation studies site directed mutagenesis Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TR? and TR?. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919–1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Thyroid hormone (T3) and thyroid receptors (TR? and TR?) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied. En ligne : http://dx.doi.org/10.1002/aur.1838 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323
in Autism Research > 10-12 (December 2017) . - p.1919-1928[article] Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients [Texte imprimé et/ou numérique] / Mahesh Kumar KALIKIRI, Auteur ; Madhu Poornima MAMIDALA, Auteur ; Ananth N. RAO, Auteur ; Vidya RAJESH, Auteur . - p.1919-1928.
Langues : Anglais (eng)
in Autism Research > 10-12 (December 2017) . - p.1919-1928
Mots-clés : autism spectral disorder (ASD) thyroid hormone receptors single nucleotide polymorphism trans-activation studies site directed mutagenesis Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TR? and TR?. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919–1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Thyroid hormone (T3) and thyroid receptors (TR? and TR?) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied. En ligne : http://dx.doi.org/10.1002/aur.1838 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323 Consanguinity in India and Its Association With Autism Spectrum Disorder / Madhu P. MAMIDALA in Autism Research, 8-2 (April 2015)
[article]
Titre : Consanguinity in India and Its Association With Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Madhu P. MAMIDALA, Auteur ; Mahesh Kumar KALIKIRI, Auteur ; P. T. V. PRAVEEN KUMAR, Auteur ; N. RAJESH, Auteur ; OmSai R. VALLAMKONDA, Auteur ; Vidya RAJESH, Auteur Article en page(s) : p.224-228 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder consanguinity risk factors genetic association India Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) has both genetic and environmental factors in its etiology. The risk for many disorders is increased by consanguinity, but it is not known whether it increases the risk for ASD. Our study from large population in India concludes that consanguinity increases the risk for ASD with an odds ratio of 3.22. En ligne : http://dx.doi.org/10.1002/aur.1431 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=256
in Autism Research > 8-2 (April 2015) . - p.224-228[article] Consanguinity in India and Its Association With Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Madhu P. MAMIDALA, Auteur ; Mahesh Kumar KALIKIRI, Auteur ; P. T. V. PRAVEEN KUMAR, Auteur ; N. RAJESH, Auteur ; OmSai R. VALLAMKONDA, Auteur ; Vidya RAJESH, Auteur . - p.224-228.
Langues : Anglais (eng)
in Autism Research > 8-2 (April 2015) . - p.224-228
Mots-clés : Autism Spectrum Disorder consanguinity risk factors genetic association India Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) has both genetic and environmental factors in its etiology. The risk for many disorders is increased by consanguinity, but it is not known whether it increases the risk for ASD. Our study from large population in India concludes that consanguinity increases the risk for ASD with an odds ratio of 3.22. En ligne : http://dx.doi.org/10.1002/aur.1431 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=256