| 1. |
- Sønderby, Ida E., et al.
(author)
-
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
- 2021
-
In: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 11:1
-
Journal article (peer-reviewed)abstract
- Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
|
|
| 2. |
- Liu, Y. B., et al.
(author)
-
Moisture source variations for summer rainfall in different intensity classes over Huaihe River Valley, China
- 2021
-
In: Climate Dynamics. - : Springer Science and Business Media LLC. - 0930-7575 .- 1432-0894. ; 57:3-4, s. 1121-1133
-
Journal article (peer-reviewed)abstract
- Rainfall is one of the most influential climatic factors on regional development and environment, and changes in rainfall intensity are of specific concern. In the Huaihe River Valley (HRV), heavy rainfall is a primary trigger of floods. However, the difference in the origin of moisture contributed to heavy rainfall and light rainfall is rarely studied and not entirely understood. This study analyzes the rainfall moisture sources in association with different categories of rainfall intensity over the HRV during 1980-2018 using the Water Accounting Model with ERA-Interim reanalysis and precipitation observations from China Meteorological Administration. The results show that the moisture for the HRV summer rainfall is mainly from terrestrial subregion (40%), the Indian Ocean (27%), the Pacific Ocean (25%), and the local HRV (8%). In addition, moisture sources differ substantially between light and heavy rainfall. Specifically, the local HRV contributes more moisture to light rainfall (12%) compared to heavy rainfall (4%), whereas the Indian Ocean contributes more to heavy rainfall (33%) than to light rainfall (20%). The grids located in the southern source region make higher contribution ratio in heavy rainfall than in light rainfall. These results suggest that moisture from distant oceanic areas, especially the Indian Ocean, plays a crucial role in intense summer rainfall, whereas moisture from the land sources covering local grids plays a dominant role in light rainfall in the HRV.
|
|
