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Unlabelled: Pathogenic coding mutations are prevalent in human neuronal transcription factors (TFs) but how they disrupt development is poorly understood. Lmx1b is a master transcriptional regulator of postmitotic neurons that give rise to mature serotonin (5-HT) neurons; over two hundred pathogenic heterozygous mutations have been discovered in human yet their impact on brain development has not been investigated. Here, we developed mouse models with different DNA-binding missense mutations.
View Article and Find Full Text PDFTo identify genes involved in regulating the behavioral and brain transcriptomic response to the potentially addictive drug cocaine, we performed genome-wide association studies (GWASs) for intravenous self-administration of cocaine or saline (as a control) over 10 days using a panel of inbred and recombinant inbred mice. A linear mixed model increased statistical power for these longitudinal data and identified 145 loci for responding when saline only was delivered, compared to 17 for the corresponding cocaine GWAS. Only one locus overlapped.
View Article and Find Full Text PDFThe explosion of next-generation sequencing technologies has allowed researchers to move from studying single genes, to thousands of genes, and thereby to also consider the relationships within gene networks. Like others, we are interested in understanding how developmental and evolutionary forces shape the expression of individual genes, as well as the interactions among genes. To this end, we characterized the effects of genetic background and developmental environment on brain gene coexpression in two parallel, independent evolutionary lineages of Trinidadian guppies ( ).
View Article and Find Full Text PDFFunctional network disruption in cognitively unimpaired autosomal dominant Alzheimer's disease: a magnetoencephalography study.
Brain Commun
November 2024
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC Location VUmc, 1081 HZ Amsterdam, The Netherlands.
Understanding the nature and onset of neurophysiological changes, and the selective vulnerability of central hub regions in the functional network, may aid in managing the growing impact of Alzheimer's disease on society. However, the precise neurophysiological alterations occurring in the pre-clinical stage of human Alzheimer's disease remain controversial. This study aims to provide increased insights on quantitative neurophysiological alterations during a true early stage of Alzheimer's disease.
View Article and Find Full Text PDFBrain fingerprint and subjective mood state across the menstrual cycle.
Front Neurosci
December 2024
Institut de Neurosciences des Systèmes, Aix-Marseille Université, Marseille, France.
Background: Brain connectome fingerprinting represents a recent and valid approach in assessing individual identifiability on the basis of the subject-specific brain functional connectome. Although this methodology has been tested and validated in several neurological diseases, its performance, reliability and reproducibility in healthy individuals has been poorly investigated. In particular, the impact of the changes in brain connectivity, induced by the different phases of the menstrual cycle (MC), on the reliability of this approach remains unexplored.
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