| 1. |
- Wang, Li-San, et al.
(författare)
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Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
- 2015
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Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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| 2. |
- Escott-Price, Valentina, et al.
(författare)
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Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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| 3. |
- Jones, Lesley, et al.
(författare)
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Convergent genetic and expression data implicate immunity in Alzheimer's disease
- 2015
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Ingår i: Alzheimer's & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 11:6, s. 658-671
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Tidskriftsartikel (refereegranskat)abstract
- Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 X 10(-12) after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 X 10(-11)), cholesterol transport (P = 2.96 X 10(-9)), and proteasome-ubiquitin activity (P = 1.34 X 10(-6)). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002-.05). Conclusions: The immime response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
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| 4. |
- Abolfathi, Bela, et al.
(författare)
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The Fourteenth Data Release of the Sloan Digital Sky Survey : First Spectroscopic Data from the Extended Baryon Oscillation Spectroscopic Survey and from the Second Phase of the Apache Point Observatory Galactic Evolution Experiment
- 2018
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Ingår i: Astrophysical Journal Supplement Series. - : IOP Publishing Ltd. - 0067-0049 .- 1538-4365. ; 235:2
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Tidskriftsartikel (refereegranskat)abstract
- The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since 2014 July. This paper describes the second data release from this phase, and the 14th from SDSS overall (making this Data Release Fourteen or DR14). This release makes the data taken by SDSS-IV in its first two years of operation (2014-2016 July) public. Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey; the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data-driven machine-learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from the SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS web site (www.sdss.org) has been updated for this release and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020 and will be followed by SDSS-V.
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| 5. |
- Blanton, Michael R., et al.
(författare)
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Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
- 2017
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Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
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Tidskriftsartikel (refereegranskat)abstract
- We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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| 6. |
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The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
- 2022
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Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
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Tidskriftsartikel (refereegranskat)abstract
- This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
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| 7. |
- Crane, Peter Robert, et al.
(författare)
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Water lilies, loss of woodiness, and model systems
- 2020
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Ingår i: Proceedings of the National Academy of Sciences. ; 117, s. 9674-9676
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Tidskriftsartikel (refereegranskat)abstract
- The delicate necklace of threaded petals from the tomb of Rameses II, mid-nineteenth century glasshouses built for the newly discovered Victoria amazonica, and Monet’s giant canvases in the Mus´ee de l’Orangerie all testify to a deep human attraction to waterlilies: beguiling plants with showy flowers that seem toarise nymph-like out of the mud. Like orchids, cacti, succulents, and carnivorous plants, water lilies have a dedicated band of horticulturalists devoted to growing and exploring their endless variety. The late nineteenth century craze for water lilies that attracted Monet was fueled by one such enthusiast, Joseph Bory Latour-Marliac, who developed hardy waterlily cultivars with dazzling new flower colors ranging from “delicate yellow to fuscia and deep red.” Nymphaea thermarum, the focus of the recent paper by Povilus et al., is another unusual water lily variant. The smallest water lily known, N. thermarum was discovered and described in the late 1980s. Endemic to hot spring lakes in the Albertine Rift Valley of Rwanda, now, just a few decades after its discovery,it appears to be extinct in the wild.
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| 8. |
- Friis, Else Marie, et al.
(författare)
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Catanthus, an Extinct Magnoliid Flower from the Early Cretaceous of Portugal
- 2021
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Ingår i: International journal of plant sciences. - : University of Chicago Press. - 1058-5893 .- 1537-5315. ; 182, s. 28-45
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Tidskriftsartikel (refereegranskat)abstract
- Premise of research. Early Cretaceous flowers recovered from Portugal and North America are some of the oldest and most informative angiosperm structures known. Analyses of this material provide a more direct basis for inferring floral structure and biology in early angiosperms than extrapolations based solely on extant taxa, and they have documented an unanticipated diversity of angiosperms, including the presence of many extinct forms, during the Early Cretaceous. The fossil flower described here from the Early Cretaceous of Portugal adds to the knowledge of this extinct diversity.Methodology. Coalified fossil flowers were extracted from unconsolidated sediments and cleaned with HF, HCl, and water. Details were studied using scanning electron microscopy and synchrotron radiation X-ray tomographic microscopy. Phylogenetic relationships were evaluated by adding the fossil to a phylogenetic analysis of extant basal angiosperms based on morphological characters but constrained according to a topology based on molecular data.Pivotal results. A new genus and species, Catanthus dolichostemon, are described on the basis of the fossil flowers. The perianth consists of three thick sepal-like tepals in an outer whorl and six thinner petallike tepals in two inner whorls. The androecium consists of several whorls of stamens with long, broad filaments and anthers with extrorse dehiscence. Pollen is trichotomocolpate and possibly monocolpate. The gynoecium is superior and apocarpous, consisting of six or, rarely, five carpels. Analysis of the phylogenetic position of Catanthus suggests a relationship to Canellales and Magnoliales.Conclusions. Catanthus is a new Early Cretaceous magnoliid angiosperm for which the relationship to the two major clades of extant magnoliids (Laurales + Magnoliales or Canellales + Piperales) is not resolved securely. Catanthus adds to the evidence of substantial extinct diversity among early angiosperms, including the presence of extinct forms related to extant magnoliids, and it is consistent with a general pattern that angiosperm assemblages from the middle Albian and earlier are dominated by noneudicots.
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| 9. |
- Friis, Else Marie, et al.
(författare)
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Chlamydospermous seeds document the diversity andabundance of extinct gnetalean relatives in Early Cretaceous vegetation
- 2019
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Ingår i: International journal of plant sciences. - Chicago : University of Chicago Press. - 1058-5893 .- 1537-5315. ; 180, s. 643-666
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Tidskriftsartikel (refereegranskat)abstract
- Premise of research. The recognition of diverse and abundant chlamydospermous seeds from the Early Cretaceous of Denmark, Portugal, and eastern North America has been an unexpected outcome of studies of mesofloras that were initially focused on early angiosperms. These seeds provide structural information critical for understanding morphological and structural diversity in an important Mesozoic group of extinct gnetalean relatives.Methodology. The fossil seeds were picked from Early Cretaceous mesofossil floras from localities in western Portugal and Virginia using a stereomicroscope. Selected seeds were studied in more detail for morphological and anatomical traits using SEM and synchrotron radiation X-ray tomographic microscopy.Pivotal results. Six new species of chlamydospermous seeds are described that add substantially to the known diversity of Early Cretaceous chlamydosperms. In general seed organization, the fossils are similar to seeds of extant Gnetales, but none of the fossils can be assigned to any of the three living genera of Gnetales (Ephedra, Gnetum, and Welwitschia). All six species have similar closure of the micropylar canal but show considerable variation in the anatomy of the seed envelope. In micropylar closure, the fossils are most similar to extant Gnetum, but they differ in other respects from seeds of extant Gnetum, and one of the new seed taxa has polyplicate, ephedroid pollen in the micropyle. A well-preserved embryo with two cotyledons is preserved in seeds of Rothwellia foveata and provides the first information on the embryo in this Early Cretaceous chlamydospermous complex.Conclusions. The chlamydospermous seeds described here show similarities to seeds of extant Gnetales. However, most of the fossils exhibit combinations of features that are unknown among extant species of Gnetales and clearly represent an extinct complex of plants that were important in Early Cretaceous vegetation, along with other extinct plant groups, including Bennettitales and Erdtmanithecales.
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| 10. |
- Friis, Else Marie, et al.
(författare)
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Early and Mid-Cretaceous Aristolochiaceous Seeds from Portugal and Eastern North America
- 2022
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Ingår i: International journal of plant sciences. - Chicago : University of Chicago Press. - 1058-5893 .- 1537-5315. ; 183:7, s. 587-603
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Tidskriftsartikel (refereegranskat)abstract
- Premise of research. The fossil record of Aristolochiaceae (Piperales, magnoliids) is sparse, particularly from Cretaceous strata. Fossil seeds from the Early and mid-Cretaceous of Portugal and North America provide the earliest unequivocal documentation of the group.Methodology. Detailed morphological and anatomical investigations of the fossil aristolochiaceous seeds were carried out using SEM and synchrotron radiation X-ray tomographic microscopy (SRXTM). Comparison with other seeds, extinct as well as extant, was based on published data and SRXTM analyses.Pivotal results. Two new genera and two new species, Aristospermum huberi and Siratospermum mauldinense, are described based on fossil seeds from the Early and mid-Cretaceous of Portugal and North America. The seeds are anatropous and bitegmic, with the micropyle formed by the inner integument. The testa consists of an exotesta of varied thickness and an endotesta of crystalliferous cells. The tegmen is three cell layers thick and consists of an outermost layer of longitudinally aligned fibers, a middle layer of transversely aligned fibers perpendicular to the longitudinal fibers, and an inner layer of thin-walled cuboidal cells. In most seeds the exotesta is abraded, exposing the crystalliferous cells of the endotesta. Among extant plants, a similar seed coat with a crystalliferous endotesta and crossing fibers in the tegmen is unique to Aristolochiaceae.Conclusion. The unique seed coat allows Aristospermum and Siratospermum to be assigned confidently to the lineage that today includes extant Aristolochiaceae. Aristospermum and Siratospermum provide the first unequivocal documentation of the Aristolochiaceae lineage of the Piperales during the Early Cretaceous diversification of angiosperms.
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