| 1. |
|
|
| 2. |
- Marouli, Eirini, et al.
(författare)
-
Rare and low-frequency coding variants alter human adult height
- 2017
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
-
Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
|
|
| 3. |
- Moberg, Christina, et al.
(författare)
-
De unga gör helt rätt när de stämmer staten
- 2022
-
Ingår i: Aftonbladet. - 1103-9000.
-
Tidskriftsartikel (populärvet., debatt m.m.)abstract
- 1 620 forskare och lärare i forskarvärlden: Vi ställer oss bakom Auroras klimatkrav
|
|
| 4. |
- Ameri, Jacqueline, et al.
(författare)
-
FGF2 Specifies hESC-Derived Definitive Endoderm into Foregut/Midgut Cell Lineages in a Concentration-Dependent Manner.
- 2010
-
Ingår i: Stem Cells. - : Oxford University Press (OUP). - 1549-4918 .- 1066-5099. ; 28, s. 45-56
-
Tidskriftsartikel (refereegranskat)abstract
- Fibroblast growth factor (FGF) signaling controls axis formation during endoderm development. Studies in lower vertebrates have demonstrated that FGF2 primarily patterns the ventral foregut endoderm into liver and lung, whereas FGF4 exhibits broad anterior-posterior and left-right patterning activities. Furthermore, an inductive role of FGF2 during dorsal pancreas formation has been shown. However, whether FGF2 plays a similar role during human endoderm development remains unknown. Here, we show that FGF2 specifies hESC-derived definitive endoderm (DE) into different foregut lineages in a dosage-dependent manner. Specifically, increasing concentrations of FGF2 inhibits hepatocyte differentiation, whereas intermediate concentration of FGF2 promotes differentiation towards a pancreatic cell fate. At high FGF2 levels specification of midgut endoderm into small intestinal progenitors is increased at the expense of PDX1+ pancreatic progenitors. High FGF2 concentrations also promote differentiation towards an anterior foregut pulmonary cell fate. Finally, by dissecting the FGF receptor intracellular pathway that regulates pancreas specification, we demonstrate for the first time to our knowledge that induction of PDX1+ pancreatic progenitors relies on FGF2-mediated activation of the MAPK signaling pathway. Altogether, these observations suggest a broader gut endodermal patterning activity of FGF2 that corresponds to what has previously been advocated for FGF4, implying a functional switch from FGF4 to FGF2 during evolution. Thus, our results provide new knowledge of how cell fate specification of human DE is controlled - facts that will be of great value for future regenerative cell therapies.
|
|
| 5. |
- Andersson, Urban, 1965, et al.
(författare)
-
Erfarenheter av medlemskap och implementering av ORCID på Chalmers
- 2014
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- ORCID lanserades i oktober 2012 och ett drygt halvår senare blev Chalmers som första svenskaorganisation medlem. Syftet var att undersöka vilket stöd vi kunde ge Chalmers forskare genom attsprida kännedom om ORCID och assistera vid registreringen av ORCID-id, samt att utreda vilkainterna system som berördes av den nya standard för att identifiera forskare som ORCID innebär.Genom detta tidiga medlemskap skaffade sig Chalmers bibliotek erfarenheter som gällerimplementeringen av ORCID, som vi snart märkte att andra lärosäten både inom landet och utrikesvar intresserade att ta del av.I en första fas hösten 2013 genomförde vi ett pilotprojekt med en av Chalmers institutioner,Institutionen för rymd- och geovetenskaper. Syftet var att skapa ORCID-id åt institutionens forskareoch projektet genomfördes i nära samarbete med institutionens prefekt. Tekniskt använde vi oss avmöjligheten att utifrån en lista med namn och e-postadresser skapa id:n åt samtliga berördaforskare. Erfarenheterna från detta försök ledde dock till beslutet att istället bygga en webbtjänst,där forskarna individuellt fick möjlighet att såväl koppla befintliga ORCID-id till Chalmers, som attskapa ett helt nytt id om man saknade detta sedan tidigare.Föreliggande rapport ger en överblick över dessa erfarenheter och exemplifierar de frågeställningarsom införandet av ORCID kan medföra på lokal nivå. Tack till Kungliga biblioteket och området förOpenaccess.se och publiceringsfrågor, som möjliggjort rapporten genom ett projektbidrag.
|
|
| 6. |
- Bentham, James, et al.
(författare)
-
A century of trends in adult human height
- 2016
-
Ingår i: eLIFE. - 2050-084X. ; 5
-
Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
|
|
| 7. |
- Bentham, James, et al.
(författare)
-
A century of trends in adult human height
- 2016
-
Ingår i: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
-
Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
|
|
| 8. |
- Berndt, Sonja I., et al.
(författare)
-
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
-
Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
|
|
| 9. |
- Calzavara, Martina, et al.
(författare)
-
Picking from pallet and picking from boxes: a time and ergonomic study
- 2017
-
Ingår i: IFAC-PapersOnLine. - : Elsevier BV. - 2405-8963. ; 50:1, s. 6888-6893
-
Konferensbidrag (refereegranskat)abstract
- The paper aims at studying different storing configurations and presentation strategies for the parts in a manual assembly system. Based on an experiment, the paper gives insight into how both picking time and ergonomic effort relate to the storing configuration, considering whether parts are stored on pallets or in smaller boxes, and considering whether or not the containers are tilted towards the picker.
|
|
| 10. |
- Cattaruzza, Martina, et al.
(författare)
-
Hybrid polymer-liquid lithium ion electrolytes: effect of porosity on the ionic and molecular mobility
- 2023
-
Ingår i: Journal of Materials Chemistry A. - : Royal Society of Chemistry (RSC). - 2050-7488 .- 2050-7496. ; 11:13, s. 7006-7015
-
Tidskriftsartikel (refereegranskat)abstract
- Alternative electrolyte systems such as hybrid electrolytes are much sought after to overcome safety issues related to liquid electrolytes in lithium ion batteries (LIBs). Hybrid solid-liquid electrolytes (HEs) like the heterogeneous structural battery electrolyte (SBE) consist of two discrete co-existing phases prepared by polymerization-induced phase separation: one solid polymer phase providing mechanical integrity and the other one a percolating liquid ion-conducting phase. The present work investigates the ion and the solvent mobility in a series of HEs using morphological, electrochemical impedance and NMR spectroscopic methods. All the dried HEs exhibit a porous structure with a broad pore size distribution stretching down to <10 nm diameter. Penetration of the individual components of the solution, that is the ions and the solvent, in the solid polymer phase is demonstrated. Yet, it is the pores that are the main ion conduction channels in the liquid-saturated HEs and, in general, translational mobility is strongly dependent on the volume fraction and size of the pores and, thereby, on the initial liquid electrolyte content. We also observe that the translational mobility of solvent and the ions vary differently with the pore volume fraction. This finding is explained by the presence of small mesopores where the mobility strongly depends on the specific interactions of the molecular constituent with the pore wall. These interactions are inferred to be stronger for the EC/PC solvent than for the ions. This study shows how the morphology and the chemical composition of HEs affect the ionic and molecular transport in the system.
|
|
