Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.

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Fältnamn	Indikatorer	Metadata
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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