| 1. |
- 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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| 2. |
- Thorell, Kaisa, 1983, et al.
(författare)
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The Helicobacter pylori Genome Project: insights into H. pylori population structure from analysis of a worldwide collection of complete genomes
- 2023
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Ingår i: Nature Communications. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Helicobacter pylori, a dominant member of the gastric microbiota, shares co-evolutionary history with humans. This has led to the development of genetically distinct H. pylori subpopulations associated with the geographic origin of the host and with differential gastric disease risk. Here, we provide insights into H. pylori population structure as a part of the Helicobacter pylori Genome Project (HpGP), a multi-disciplinary initiative aimed at elucidating H. pylori pathogenesis and identifying new therapeutic targets. We collected 1011 well-characterized clinical strains from 50 countries and generated high-quality genome sequences. We analysed core genome diversity and population structure of the HpGP dataset and 255 worldwide reference genomes to outline the ancestral contribution to Eurasian, African, and American populations. We found evidence of substantial contribution of population hpNorthAsia and subpopulation hspUral in Northern European H. pylori. The genomes of H. pylori isolated from northern and southern Indigenous Americans differed in that bacteria isolated in northern Indigenous communities were more similar to North Asian H. pylori while the southern had higher relatedness to hpEastAsia. Notably, we also found a highly clonal yet geographically dispersed North American subpopulation, which is negative for the cag pathogenicity island, and present in 7% of sequenced US genomes. We expect the HpGP dataset and the corresponding strains to become a major asset for H. pylori genomics.
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| 3. |
- Janis, Christine M., et al.
(författare)
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Myth of the QANTAS leap : perspectives on the evolution of kangaroo locomotion
- 2023
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Ingår i: Alcheringa. - : Taylor & Francis. - 0311-5518 .- 1752-0754. ; 47:4, s. 671-685
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Tidskriftsartikel (refereegranskat)abstract
- The distinctive QANTAS flying kangaroo' motif of Australia's national airline signifies what many people regard as the pinnacle of kangaroo evolution-a large-bodied marsupial specialized for endurance-hopping. However, while almost all extant macropodoids (the crown group including kangaroos) use hopping gaits to some extent, the fossil record reveals that the locomotory capabilities of extinct macropodoids were comparatively diverse. The earliest recognized Oligocene- middle Miocene macropodoids probably employed quadrupedal bounding, climbing and slower speed hopping as their primary modes of locomotion. Yet, all were apparently small-bodied (<12 kg), with larger-bodied (>20 kg) forms not appearing until the late Miocene coincident with increasing aridity and the spread of openly vegetated habitats. Hopping is functionally problematic at larger body sizes. Consequently, the later radiation of macropodids (kangaroos, wallabies and their relatives) achieved an optimal mass for efficient higher-speed hopping at similar to 35 kg, with a theorized extreme limit of similar to 140-160 kg. Modern kangaroos otherwise approach the peak mass range for such gaits at similar to 50-90 kg, with the gigantic Pliocene-Pleistocene species of Protemnodon (giant wallabies') at similar to 100-160 kg likely being predominantly quadrupedal, and sthenurines (short-faced kangaroos) at similar to 50-250 kg seemingly using bipedal striding. Here, we review the fossil evidence of macropodoid locomotion over the last similar to 25 million years, and present preliminary analyses of limb bone and tarsal metric data. These indicate that the higher-speed endurance-hop-ping typical of modern large-bodied kangaroos was probably rare or absent in all but a few crown macropodoid lineages. The intrinsic gait variability of macropodoids has therefore diminished with Late Pleistocene megafaunal extinctions. As a result, the famous QANTAS flying kangaroo' actually depicts only one of what was once many successful locomotory strategies employed by macropo-doids to conquer a range of terrestrial and arboreal habitats.
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| 4. |
- Žliobaitė, Indrė, et al.
(författare)
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The NOW Database of Fossil Mammals
- 2023
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Ingår i: Evolution of Cenozoic Land Mammal Faunas and Ecosystems: 25 years of the NOW database of fossil mammals. - : Springer. ; , s. 33-42
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Bokkapitel (refereegranskat)abstract
- NOW (New and Old Worlds) is a global database of fossil mammal occurrences, currently containing around 68,000 locality-species entries. The database spans the last 66 million years, with its primary focus on the last 23 million years. Whereas the database contains records from all continents, the main focus and coverage of the database historically has been on Eurasia. The database includes primarily, but not exclusively, terrestrial mammals. It covers a large part of the currently known mammalian fossil record, focusing on classical and actively researched fossil localities. The database is managed in collaboration with an international advisory board of experts. Rather than a static archive, it emphasizes the continuous integration of new knowledge of the community, data curation, and consistency of scientific interpretations. The database records species occurrences at localities worldwide, as well as ecological characteristics of fossil species, geological contexts of localities and more. The NOW database is primarily used for two purposes: (1) queries about occurrences of particular taxa, their characteristics and properties of localities in the spirit of an encyclopedia; and (2) large scale research and quantitative analyses of evolutionary processes, patterns, reconstructing past environments, as well as interpreting evolutionary contexts. The data are fully open, no logging in or community membership is necessary for using the data for any purpose.
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| 5. |
- Fortelius, Mikael, et al.
(författare)
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The Origin and Early History of NOW as It Happened
- 2023
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Ingår i: Evolution of Cenozoic Land Mammal Faunas and Ecosystems: 25 years of the NOW database of fossil mammals.. - : Springer. ; , s. 7-32
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Bokkapitel (refereegranskat)abstract
- The NOW database of fossil mammals came to be through a confluence of several initiatives spanning multiple decades. The first public version of NOW database was released in 1996 and the first Advisory Board was established the year after. Originally, NOW stood for Neogene of the Old World but with the gradual expansion of the database the acronym was eventually reassigned to stand for New and Old Worlds. The structure of what would become NOW was originally cloned from the ETE database of the Smithsonian Institution and the first NOW version accessible over the internet was a node of the ETE database. The first standalone, online version of NOW was launched in 2005 and the first formal steering group was established in 2009. During its existence, NOW has been funded, directly or indirectly, by several organizations but fundamentally it has always been an unfunded community effort, dependent on voluntary work by the participants.
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