Hollantilainen geneetikko H. G. Brunner kuvasi oireiston vuonna 1993. Samana vuonna myös oireyhtymän aiheuttava geenimuutos tunnistettiin. ... Brunner syndrome; BRNRS. Piton A, Poquet H, Redin C, et al. 20 ans…
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Monoamine oxidase A, also known as MAO-A, is an enzyme that in humans is encoded by the MAOA gene. This gene is one of two neighboring gene family members that…
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Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency ( Brunner et al., 1993). [from OMIM] Available tests. 37 tests are…
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Results Brunner syndrome DA neurons showed reduced synaptic density but hyperactive network activity. Intrinsic functional properties and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR)-mediated synaptic transmission were not affected by MAOA dysfunction.
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Monoamine oxidase A (MAOA) is an enzyme that catalyzes the degradation of dopamine, noradrenaline, and serotonin. Regulation of monoamine neurotransmitter abundance through MAOA activity strongly affects motor control, emotion, and…
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Family Studies. Family studies are another way of investigating genetic links in offending behaviour. Brunner et al. (1993) conducted an analysis of a large family in the Netherlands, a number…
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Brunner syndrome happens when there are changes in the MAOA gene. These changes can keep the gene from working as it should. Key Role. The MAOA protein is important for…
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Burner’s syndrome is a common injury in contact sports and reflects an upper cervical root injury or a peripheral nerve dysfunction injury. It is a transient nerve injury which occurs…
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As MAOA is involved in the production of enzymes that break down neurotransmitters, issues with this gene can result in mood disorders, as seen in the case of Brunner et…
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Abstract. We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant of monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males…
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These findings were strikingly confirmed in newly reported cases of Brunner syndrome. The role of MAOB in behavioral regulation remains less well-understood, even though Maob-deficient mice have been found to…
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Brunner syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder (ASD), and impulsive, aggressive behavioral outbursts trigged by a reaction to stress. Individuals also present with…
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Brunner syndrome is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and norepinephrine (noradrenaline). In both…
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Monoamine oxidase A , also known as MAO-A, is an enzyme that in humans is encoded by the MAOA gene.[5][6] This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. A mutation of this gene results in Brunner…