Institution
University of Iceland
Education•Reykjavik, Suðurnes, Iceland•
About: University of Iceland is a education organization based out in Reykjavik, Suðurnes, Iceland. It is known for research contribution in the topics: Population & Genome-wide association study. The organization has 5423 authors who have published 16199 publications receiving 694762 citations. The organization is also known as: Háskóli Íslands.
Papers published on a yearly basis
Papers
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TL;DR: It is shown that the classification of multilevel-multisource data sets with SVM and RF is feasible and does not require a definition of ideal aggregation levels.
Abstract: A strategy for the joint classification of multiple segmentation levels from multisensor imagery is introduced by using synthetic aperture radar and optical data. At first, the two data sets are separately segmented, creating independent aggregation levels at different scales. Each individual level from the two sensors is then preclassified by a support vector machine (SVM). The original outputs of each SVM, i.e., images showing the distances of the pixels to the hyperplane fitted by the SVM, are used in a decision fusion to determine the final classes. The fusion strategy is based on the application of an additional classifier, which is applied on the preclassification results. Both a second SVM and random forests (RF) were tested for the decision fusion. The results are compared with SVM and RF applied to the full data set without preclassification. Both the integration of multilevel information and the use of multisensor imagery increase the overall accuracy. It is shown that the classification of multilevel-multisource data sets with SVM and RF is feasible and does not require a definition of ideal aggregation levels. The proposed decision fusion approach that applies RF to the preclassification outperforms all other approaches.
202 citations
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TL;DR: In aqueous solutions water-soluble polymers were shown to increase the solubilising effect of cyclodextrins on drugs as discussed by the authors, and the polymers increased the stability constants of the drug-cyclodextrin complexes.
202 citations
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TL;DR: This work uncovers a role for Tfe3 in osteoclast development, a role that is functionally redundant with Mitf, and suggests that heterodimeric interactions are not essential for Mitf-Tfe function in contrast to other bHLH-Zip families like Myc/Max/Mad, where heterodimmeric interactions seem to be essential.
Abstract: The Mitf-Tfe family of basic helix–loop–helix-leucine zipper (bHLH-Zip) transcription factors encodes four family members: Mitf, Tfe3, Tfeb, and Tfec. In vitro, each protein in the family can bind DNA as a homo- or heterodimer with other family members. Mutational studies in mice have shown that Mitf is essential for melanocyte and eye development, whereas Tfeb is required for placental vascularization. Here, we uncover a role for Tfe3 in osteoclast development, a role that is functionally redundant with Mitf. Although osteoclasts seem normal in Mitf or Tfe3 null mice, the combined loss of the two genes results in severe osteopetrosis. We also show that Tfec mutant mice are phenotypically normal, and that the Tfec mutation does not alter the phenotype of Mitf, Tfeb, or Tfe3 mutant mice. Surprisingly, our studies failed to identify any phenotypic overlap between the different Mitf–Tfe mutations. These results suggest that heterodimeric interactions are not essential for Mitf-Tfe function in contrast to other bHLH-Zip families like Myc/Max/Mad, where heterodimeric interactions seem to be essential.
202 citations
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TL;DR: The epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH are reviewed, with an emphasis on childhood manifestations.
Abstract: Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations.
201 citations
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University of North Carolina at Chapel Hill1, University of Michigan2, Renaissance Computing Institute3, University of Washington4, Broad Institute5, University of Wisconsin–Milwaukee6, Harvard University7, University of Oxford8, Norwegian University of Science and Technology9, Icahn School of Medicine at Mount Sinai10, University of Vermont11, Fred Hutchinson Cancer Research Center12, Erasmus University Rotterdam13, University of Mississippi14, University of Iceland15, University of Minnesota16, Washington University in St. Louis17, University of Edinburgh18, University of Texas Health Science Center at Houston19, University of Pittsburgh20, George Washington University21, University of Iowa22, Stanford University23, University of Auckland24, Ohio State University25, Boston University26, University of California, Los Angeles27, Jackson State University28, University of Copenhagen29, Technische Universität München30, Baylor College of Medicine31, Johns Hopkins University32, Group Health Cooperative33, University of Virginia34
TL;DR: This large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL- C and provides unique insight into the design and analysis of similar experiments.
Abstract: Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(nd) percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments.
201 citations
Authors
Showing all 5561 results
Name | H-index | Papers | Citations |
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Albert Hofman | 267 | 2530 | 321405 |
Kari Stefansson | 206 | 794 | 174819 |
Ronald Klein | 194 | 1305 | 149140 |
Eric Boerwinkle | 183 | 1321 | 170971 |
Unnur Thorsteinsdottir | 167 | 444 | 121009 |
Vilmundur Gudnason | 159 | 837 | 123802 |
Hakon Hakonarson | 152 | 968 | 101604 |
Bernhard O. Palsson | 147 | 831 | 85051 |
Andrew T. Hattersley | 146 | 768 | 106949 |
Fernando Rivadeneira | 146 | 628 | 86582 |
Rattan Lal | 140 | 1383 | 87691 |
Jonathan G. Seidman | 137 | 563 | 89782 |
Christine E. Seidman | 134 | 519 | 67895 |
Augustine Kong | 134 | 237 | 89818 |
Timothy M. Frayling | 133 | 500 | 100344 |