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See detailNovel genetic loci underlying human intracranial volume identified through genome-wide association.
Adams, Hieab H. H.; Hibar, Derrek P.; Chouraki, Vincent et al

in Nature Neuroscience (2016), 19(12), 1569-1582

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely ... [more ▼]

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (rhogenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits. [less ▲]

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See detailA positive-negative mode of population covariation links brain connectivity, demographics and behavior.
Smith, Stephen M.; Nichols, Thomas E.; Vidaurre, Diego et al

in Nature Neuroscience (2015), 18(11), 1565-7

We investigated the relationship between individual subjects' functional connectomes and 280 behavioral and demographic measures in a single holistic multivariate analysis relating imaging to non-imaging ... [more ▼]

We investigated the relationship between individual subjects' functional connectomes and 280 behavioral and demographic measures in a single holistic multivariate analysis relating imaging to non-imaging data from 461 subjects in the Human Connectome Project. We identified one strong mode of population co-variation: subjects were predominantly spread along a single 'positive-negative' axis linking lifestyle, demographic and psychometric measures to each other and to a specific pattern of brain connectivity. [less ▲]

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See detailMelanin-concentrating hormone regulates beat frequency of ependymal cilia and ventricular volume
Conductier, G; Brau, F; Viola, A et al

in Nature Neuroscience (2013), 16

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See detailPhosphorylation of SCG10/stathmin-2 determines multipolar stage exit and neuronal migration rate
Westerlund, N.; Zdrojewska, J.; Padzik, A. et al

in Nature Neuroscience (2011)

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See detailEFHC1 interacts with microtubules to regulate cell division and cortical development
de Nijs, Laurence ULiege; Leon, Christine ULiege; Nguyen, Laurent ULiege et al

in Nature Neuroscience (2009), 12(10), 1266-74

Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic generalized epilepsies. JME is associated with subtle alterations of cortical and ... [more ▼]

Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME), one of the most frequent forms of idiopathic generalized epilepsies. JME is associated with subtle alterations of cortical and subcortical architecture, but the underlying pathological mechanism remains unknown. We found that EFHC1 is a microtubule-associated protein involved in the regulation of cell division. In vitro, EFHC1 loss of function disrupted mitotic spindle organization, impaired M phase progression, induced microtubule bundling and increased apoptosis. EFHC1 impairment in the rat developing neocortex by ex vivo and in utero electroporation caused a marked disruption of radial migration. We found that this effect was a result of cortical progenitors failing to exit the cell cycle and defects in the radial glia scaffold organization and in the locomotion of postmitotic neurons. Therefore, we propose that EFHC1 is a regulator of cell division and neuronal migration during cortical development and that disruption of its functions leads to JME [less ▲]

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See detailAlpha-fetoprotein protects the developing female mouse brain from masculinization and defeminization by estrogens
Bakker, Julie ULiege; De Mees, C.; Douhard, Quentin ULiege et al

in Nature Neuroscience (2006), 9(2), 220-226

Two clearly opposing views exist on the function of alpha-fetoprotein (AFP), a fetal plasma protein that binds estrogens with high affinity, in the sexual differentiation of the rodent brain. AFP has been ... [more ▼]

Two clearly opposing views exist on the function of alpha-fetoprotein (AFP), a fetal plasma protein that binds estrogens with high affinity, in the sexual differentiation of the rodent brain. AFP has been proposed to either prevent the entry of estrogens or to actively transport estrogens into the developing female brain. The availability of Afp mutant mice (Afp(-/-)) now finally allows us to resolve this longstanding controversy concerning the role of AFP in brain sexual differentiation, and thus to determine whether prenatal estrogens contribute to the development of the female brain. Here we show that the brain and behavior of female Afp(-/-) mice were masculinized and defeminized. However, when estrogen production was blocked by embryonic treatment with the aromatase inhibitor 1,4,6-androstatriene-3,17-dione, the feminine phenotype of these mice was rescued. These results clearly demonstrate that prenatal estrogens masculinize and defeminize the brain and that AFP protects the female brain from these effects of estrogens. [less ▲]

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See detailExperience-dependent changes in cerebral activation during human REM sleep
Maquet, Pierre ULiege; Laureys, Steven ULiege; Peigneux, Philippe ULiege et al

in Nature Neuroscience (2000), 3(8), 831-836

The function of rapid-eye-movement (REM) sleep is stiil unknown. One prevailing hypothesis suggests that REM sleep is important in processing memory traces. Here, using positron emission tomography (PET ... [more ▼]

The function of rapid-eye-movement (REM) sleep is stiil unknown. One prevailing hypothesis suggests that REM sleep is important in processing memory traces. Here, using positron emission tomography (PET) and regional cerebral blood flow measurements, we show that waking experience influences regional brain activity during subsequent sleep. Several brain areas activated during the execution of a serial reaction time task during wakefulness were significantly more active during REM sleep in subjects previously trained on the task than in non-trained subjects. These results support the hypothesis that memory traces are processed during REM sleep in humans. [less ▲]

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