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- 2019
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Keller, Annika, et al.
(författare)
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
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Tidskriftsartikel (refereegranskat)abstract
- Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
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| 3. |
- Schlee, Philipp, et al.
(författare)
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Free-standing supercapacitors from kraft lignin nanofibers with remarkable volumetric energy density
- 2019
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Ingår i: Chemical Science. - : Royal Society of Chemistry. - 2041-6539. ; 10:10, s. 2980-2988
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Tidskriftsartikel (refereegranskat)abstract
- We have discovered a very simple method to address the challenge associated with the low volumetric energy density of free-standing carbon nanofiber electrodes for supercapacitors by electrospinning Kraft lignin in the presence of an oxidizing salt (NaNO3) and subsequent carbonization in a reducing atmosphere. The presence of the oxidative salt decreases the diameter of the resulting carbon nanofibers doubling their packing density from 0.51 to 1.03 mg cm−2 and hence doubling the volumetric energy density. At the same time, the oxidative NaNO3 salt eletrospun and carbonized together with lignin dissolved in NaOH acts as a template to increase the microporosity, thus contributing to a good gravimetric energy density. By simply adjusting the process parameters (amount of oxidizing/reducing agent), the gravimetric and volumetric energy density of the resulting lignin free-standing carbon nanofiber electrodes can be carefully tailored to fit specific power to energy demands. The areal capacitance increased from 147 mF cm−2 in the absence of NaNO3 to 350 mF cm−2 with NaNO3 translating into a volumetric energy density increase from 949 μW h cm−3 without NaNO3 to 2245 μW h cm−3 with NaNO3. Meanwhile, the gravimetric capacitance also increased from 151 F g−1 without to 192 F g−1 with NaNO3.
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| 4. |
- Patrinos, George P., et al.
(författare)
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Human variome project country nodes: Documenting genetic information within a country
- 2012
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 33:11, s. 1513-1519
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Tidskriftsartikel (refereegranskat)abstract
- The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 33:15131519, 2012. (c) 2012 Wiley Periodicals, Inc.
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