| 1. |
- Smith, Jennifer A, et al.
(author)
-
Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
-
In: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
-
Journal article (peer-reviewed)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
|
|
| 2. |
- Grosse, Maël, et al.
(author)
-
Still Digging: Advances and Perspectives in the Study of the Diversity of Several Sedentarian Annelid Families
- 2021
-
In: Diversity. - : MDPI AG. - 1424-2818. ; 13:3
-
Journal article (peer-reviewed)abstract
- Sedentarian annelids are a diverse and heterogeneous group of marine worms representing more than 8600 species gathered in ca. 43 families. The attention brought to these organisms is unevenly distributed among these families, and the knowledge about them sometimes scarce. We review here the current knowledge about the families Acrocirridae, Cirratulidae (including Ctenodrilidae), Cossuridae, Longosomatidae, Paraonidae, and Sternaspidae in terms of biodiversity as well as the evolution of the taxonomy and systematics of each group. We present the challenges faced when studying these organisms and compare methodologies across groups and perspectives in future research.
|
|
| 3. |
- Zhao, KX, et al.
(author)
-
In Vivo CaV3 Channel Inhibition Promotes Maturation of Glucose-Dependent Ca2+ Signaling in Human iPSC-Islets
- 2023
-
In: Biomedicines. - : MDPI AG. - 2227-9059. ; 11:3
-
Journal article (peer-reviewed)abstract
- CaV3 channels are ontogenetically downregulated with the maturation of certain electrically excitable cells, including pancreatic β cells. Abnormally exaggerated CaV3 channels drive the dedifferentiation of mature β cells. This led us to question whether excessive CaV3 channels, retained mistakenly in engineered human-induced pluripotent stem cell-derived islet (hiPSC-islet) cells, act as an obstacle to hiPSC-islet maturation. We addressed this question by using the anterior chamber of the eye (ACE) of immunodeficient mice as a site for recapitulation of in vivo hiPSC-islet maturation in combination with intravitreal drug infusion, intravital microimaging, measurements of cytoplasmic-free Ca2+ concentration ([Ca2+]i) and patch clamp analysis. We observed that the ACE is well suited for recapitulation, observation and intervention of hiPSC-islet maturation. Intriguingly, intraocular hiPSC-islet grafts, retrieved intact following intravitreal infusion of the CaV3 channel blocker NNC55-0396, exhibited decreased basal [Ca2+]i levels and increased glucose-stimulated [Ca2+]i responses. Insulin-expressing cells of these islet grafts indeed expressed the NNC55-0396 target CaV3 channels. Intraocular hiPSC-islets underwent satisfactory engraftment, vascularization and light scattering without being influenced by the intravitreally infused NNC55-0396. These data demonstrate that inhibiting CaV3 channels facilitates the maturation of glucose-activated Ca2+ signaling in hiPSC-islets, supporting the notion that excessive CaV3 channels as a developmental error impede the maturation of engineered hiPSC-islet insulin-expressing cells.
|
|
| 4. |
|
|
| 5. |
- Sehaqui, Houssine, et al.
(author)
-
Wood cellulose biocomposites with fibrous structures at micro- and nanoscale
- 2011
-
In: Composites Science And Technology. - : Elsevier BV. - 0266-3538 .- 1879-1050. ; 71:3, s. 382-387
-
Journal article (peer-reviewed)abstract
- High-strength composites from wood fiber and nanofibrillated cellulose (NFC) were prepared in a semiautomatic sheet former. The composites were characterized by tensile tests, dynamic mechanical thermal analysis, field-emission scanning electron microscopy, and porosity measurements. The tensile strength increased from 98 MPa to 160 MPa and the work to fracture was more than doubled with the addition of 10% NFC to wood fibers. A hierarchical structure was obtained in the composites in the form of a micro-scale wood fiber network and an additional NFC nanofiber network linking wood fibers and also occupying some of the micro-scale porosity. Deformation mechanisms are discussed as well as possible applications of this biocomposites concept. (C) 2010 Published by Elsevier Ltd.
|
|
| 6. |
- Vacher, Jean-Pierre, et al.
(author)
-
Cryptic diversity in Amazonian frogs : Integrative taxonomy of the genus Anomaloglossus (Amphibia: Anura: Aromobatidae) reveals a unique case of diversification within the Guiana Shield
- 2017
-
In: Molecular Phylogenetics and Evolution. - : Elsevier. - 1055-7903 .- 1095-9513. ; 112, s. 158-173
-
Journal article (peer-reviewed)abstract
- Lack of resolution on species boundaries and distribution can hamper inferences in many fields of biology, notably biogeography and conservation biology. This is particularly true in megadiverse and under surveyed regions such as Amazonia, where species richness remains vastly underestimated. Integrative approaches using a combination of phenotypic and molecular evidence have proved extremely successful in reducing knowledge gaps in species boundaries, especially in animal groups displaying high levels of cryptic diversity like amphibians. Here we combine molecular data (mitochondrial 16S rRNA and nuclear TYR, POMC, and RAG1) from 522 specimens of Anomaloglossus, a frog genus endemic to the Guiana Shield, including 16 of the 26 nominal species, with morphometrics, bioacoustics, tadpole development mode, and habitat use to evaluate species delineation in two lowlands species groups. Molecular data reveal the existence of 18 major mtDNA lineages among which only six correspond to described species. Combined with other lines of evidence, we confirm the existence of at least 12 Anomaloglossus species in the Guiana Shield lowlands. Anomaloglossus appears to be the only amphibian genus to have largely diversified within the eastern part of the Guiana Shield. Our results also reveal strikingly different phenotypic evolution among lineages. Within the A. degranvillei group, one subclade displays acoustic and morphological conservatism, while the second subclade displays less molecular divergence but clear phenotypic divergence. In the A. stepheni species group, a complex evolutionary diversification in tadpole development is observed, notably with two closely related lineages each displaying exotrophic and endotrophic tadpoles.
|
|
