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- 저자 : E. D’Amico (검색결과 2 건)
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The Spinner-IBMM mouse is a new spontaneous mutant in the Tmie gene
E. D’Amico,Virginie Stygelbout,Stéphane Schurmans 한국유전학회 2012 Genes & Genomics Vol.34 No.1
A recessively inherited, spontaneous mutation named Spinner-IBMM (SI) was identified in a transgenic mouse colony in our institute. SI mutant mice displayed hyperactivity,including a severe circling behavior, ataxia and inability to swim. Gene mapping revealed that the causative gene was located on a 35 Mb DNA fragment on chromosome 9. Candidate genes sequencing in this DNA fragment identified a new mutant allele in the Tmie gene. The identified mutant is characterized by a nucleotide deletion in exon 5, leading to a frameshift and a premature STOP codon. It has been reported that inactivating mutations in the mouse Tmie gene result in an identical phenotype, probably resulting from defects in the inner ear. However, the exact function of the Tmie protein in the ear and other organs is still unknown. The analysis of this new mouse mutant could contribute to a better understanding of Tmie functions in vivo in the ear and other organs.
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Wise, T,Radua, J,Via, E,Cardoner, N,Abe, O,Adams, T M,Amico, F,Cheng, Y,Cole, J H,de Azevedo Marques Pé,rico, C,Dickstein, D P,Farrow, T F D,Frodl, T,Wagner, G,Gotlib, I H,Gruber, O,Ham, B J,Job Macmillan Publishers Limited, part of Springer Nat 2017 Molecular psychiatry Vol.22 No.10
<P>Finding robust brain substrates of mood disorders is an important target for research. The degree to which major depression (MDD) and bipolar disorder (BD) are associated with common and/or distinct patterns of volumetric changes is nevertheless unclear. Furthermore, the extant literature is heterogeneous with respect to the nature of these changes. We report a meta-analysis of voxel-based morphometry (VBM) studies in MDD and BD. We identified studies published up to January 2015 that compared grey matter in MDD (50 data sets including 4101 individuals) and BD (36 data sets including 2407 individuals) using whole-brain VBM. We used statistical maps from the studies included where available and reported peak coordinates otherwise. Group comparisons and conjunction analyses identified regions in which the disorders showed common and distinct patterns of volumetric alteration. Both disorders were associated with lower grey-matter volume relative to healthy individuals in a number of areas. Conjunction analysis showed smaller volumes in both disorders in clusters in the dorsomedial and ventromedial prefrontal cortex, including the anterior cingulate cortex and bilateral insula. Group comparisons indicated that findings of smaller grey-matter volumes relative to controls in the right dorsolateral prefrontal cortex and left hippocampus, along with cerebellar, temporal and parietal regions were more substantial in major depression. These results suggest that MDD and BD are characterised by both common and distinct patterns of grey-matter volume changes. This combination of differences and similarities has the potential to inform the development of diagnostic biomarkers for these conditions.</P>
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