Sökning: onr:"swepub:oai:gup.ub.gu.se/144120" > Genetic variations ...
Fältnamn | Indikatorer | Metadata |
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000 | 07313naa a2201009 4500 | |
001 | oai:gup.ub.gu.se/144120 | |
003 | SwePub | |
008 | 240528s2011 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:356cdf87-8fa2-4485-b341-b77ba37120f8 | |
024 | 7 | a https://gup.ub.gu.se/publication/1441202 URI |
024 | 7 | a https://doi.org/10.1111/j.1600-079X.2011.00902.x2 DOI |
024 | 7 | a https://lup.lub.lu.se/record/19721092 URI |
040 | a (SwePub)gud (SwePub)lu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Chaste, Pauline4 aut |
245 | 1 0 | a Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders. |
264 | 1 | c 2011 |
520 | a Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD, but no significant enrichment compared with the general population. Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
653 | a Acetylserotonin O-Methyltransferase | |
653 | a Genetics | |
653 | a Arylalkylamine N-Acetyltransferase | |
653 | a Genetics | |
653 | a Attention Deficit Disorder with Hyperactivity | |
653 | a Genetics | |
653 | a Female | |
653 | a Genetic Variation | |
653 | a Genetics | |
653 | a Humans | |
653 | a Male | |
653 | a Melatonin | |
653 | a Genetics | |
653 | a Nerve Tissue | |
653 | a Proteins | |
653 | a Genetics | |
653 | a Receptor | |
653 | a Melatonin | |
653 | a MT1 | |
653 | a Genetics Receptors | |
653 | a G-Protein-Coupled | |
653 | a Genetics | |
653 | a Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of melatonin signaling has been reported in a broad range of diseases | |
653 | a but little is known about the genetic variability of this pathway in humans. Here | |
653 | a we sequenced all the genes of the melatonin pathway - AA-NAT | |
653 | a ASMT | |
653 | a MTNR1A | |
653 | a MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with Attention Deficit/Hyperactivity Disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD | |
653 | a but no significant enrichment compared with the general population. Among these variations | |
653 | a we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) — detected exclusively in patients with ADHD — for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD. | |
700 | 1 | a Clement, Nathalie4 aut |
700 | 1 | a Botros, Hany Goubran4 aut |
700 | 1 | a Guillaume, Jean-Luc4 aut |
700 | 1 | a Konyukh, Marina4 aut |
700 | 1 | a Pagan, Cécile4 aut |
700 | 1 | a Scheid, Isabelle4 aut |
700 | 1 | a Nygren, Gudrun,d 1957u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xnygrg |
700 | 1 | a Anckarsäter, Henrik,d 1966u Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Rättspsykiatri, Malmö,Forskargrupper vid Lunds universitet,Forensic Psychiatry, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)med-hka |
700 | 1 | a Råstam, Maria,d 1948u Lund University,Lunds universitet,Barn- och ungdomspsykiatri,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Child and Adolescent Psychiatry,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-mr_ |
700 | 1 | a Ståhlberg, Olau Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xstaol |
700 | 1 | a Gillberg, I Carina,d 1949u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xgillc |
700 | 1 | a Melke, Jonas,d 1971u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology4 aut0 (Swepub:gu)xmelkj |
700 | 1 | a Delorme, Richard4 aut |
700 | 1 | a Leblond, Claire4 aut |
700 | 1 | a Toro, Roberto4 aut |
700 | 1 | a Huguet, Guillaume4 aut |
700 | 1 | a Fauchereau, Fabien4 aut |
700 | 1 | a Durand, Christelle4 aut |
700 | 1 | a Boudarene, Lydia4 aut |
700 | 1 | a Serrano, Emilie4 aut |
700 | 1 | a Lemière, Nathalie4 aut |
700 | 1 | a Launay, Jean Marie4 aut |
700 | 1 | a Leboyer, Marion4 aut |
700 | 1 | a Jockers, Ralf4 aut |
700 | 1 | a Gillberg, Christopher,d 1950u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xgilch |
700 | 1 | a Bourgeron, Thomas4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
773 | 0 | t Journal of Pineal Researchg 51:4, s. 394-399q 51:4<394-399x 0742-3098x 1600-079X |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/21615493?dopt=Abstracty FULLTEXT |
856 | 4 | u http://onlinelibrary.wiley.com/doi/10.1111/j.1600-079X.2011.00902.x/abstract?systemMessage=Wy FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1111/j.1600-079X.2011.00902.xy FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/144120 |
856 | 4 8 | u https://doi.org/10.1111/j.1600-079X.2011.00902.x |
856 | 4 8 | u https://lup.lub.lu.se/record/1972109 |
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