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8 results on '"Sigurbjornsdottir, Sara"'

1. Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

Author

Styrkarsdottir, Unnur, Lund, Sigrun H., Thorleifsson, Gudmar, Zink, Florian, Stefansson, Olafur A., Sigurdsson, Jon K., Juliusson, Kristinn, Bjarnadottir, Kristbjörg, Sigurbjornsdottir, Sara, Jonsson, Stefan, Norland, Kristjan, Stefansdottir, Lilja, Sigurdsson, Asgeir, Sveinbjornsson, Gardar, Oddsson, Asmundur, Bjornsdottir, Gyda, Gudmundsson, Reynir L., Halldorsson, Gisli H., Rafnar, Thorunn, Jonsdottir, Ingileif, Steingrimsson, Eirikur, Norddahl, Gudmundur L., Masson, Gisli, Sulem, Patrick, Jonsson, Helgi, Ingvarsson, Thorvaldur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2018
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3. A Genome-Wide Screen for Dendritically Localized RNAs Identifies Genes Required for Dendrite Morphogenesis

Author

Misra, Mala, Edmund, Hendia, Ennis, Darragh, Schlueter, Marissa A., Marot, Jessica E., Tambasco, Janet, Barlow, Ida, Sigurbjornsdottir, Sara, Mathew, Renjith, Vallés, Ana Maria, Wojciech, Waldemar, Roth, Siegfried, Davis, Ilan, Leptin, Maria, Gavis, Elizabeth R., Misra, Mala, Edmund, Hendia, Ennis, Darragh, Schlueter, Marissa A., Marot, Jessica E., Tambasco, Janet, Barlow, Ida, Sigurbjornsdottir, Sara, Mathew, Renjith, Vallés, Ana Maria, Wojciech, Waldemar, Roth, Siegfried, Davis, Ilan, Leptin, Maria, and Gavis, Elizabeth R.

Published
2016

4. A Genome-Wide Screen for Dendritically Localized RNAs Identifies Genes Required for Dendrite Morphogenesis

Author

Misra, Mala, primary, Edmund, Hendia, additional, Ennis, Darragh, additional, Schlueter, Marissa A, additional, Marot, Jessica E, additional, Tambasco, Janet, additional, Barlow, Ida, additional, Sigurbjornsdottir, Sara, additional, Mathew, Renjith, additional, Vallés, Ana Maria, additional, Wojciech, Waldemar, additional, Roth, Siegfried, additional, Davis, Ilan, additional, Leptin, Maria, additional, and Gavis, Elizabeth R, additional

Published
2016
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6. Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1and 13 more new loci associated with osteoarthritis

Author

Styrkarsdottir, Unnur, Lund, Sigrun H., Thorleifsson, Gudmar, Zink, Florian, Stefansson, Olafur A., Sigurdsson, Jon K., Juliusson, Kristinn, Bjarnadottir, Kristbjörg, Sigurbjornsdottir, Sara, Jonsson, Stefan, Norland, Kristjan, Stefansdottir, Lilja, Sigurdsson, Asgeir, Sveinbjornsson, Gardar, Oddsson, Asmundur, Bjornsdottir, Gyda, Gudmundsson, Reynir L., Halldorsson, Gisli H., Rafnar, Thorunn, Jonsdottir, Ingileif, Steingrimsson, Eirikur, Norddahl, Gudmundur L., Masson, Gisli, Sulem, Patrick, Jonsson, Helgi, Ingvarsson, Thorvaldur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari

Abstract

Osteoarthritis has a highly negative impact on quality of life because of the associated pain and loss of joint function. Here we describe the largest meta-analysis so far of osteoarthritis of the hip and the knee in samples from Iceland and the UK Biobank (including 17,151 hip osteoarthritis patients, 23,877 knee osteoarthritis patients, and more than 562,000 controls). We found 23 independent associations at 22 loci in the additive meta-analyses, of which 16 of the loci were novel: 12 for hip and 4 for knee osteoarthritis. Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO(rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P= 7.9 × 10−12, p.Arg173Cys) and IL11(rs4252548, frequency 2.08%, OR = 1.30, P= 2.1 × 10−11, p.Arg112His). A common missense variant in the COL11A1gene also associates with hip osteoarthritis (rs3753841, frequency 61%, P= 5.2 × 10–10, OR = 1.08, p.Pro1284Leu). In addition, using a recessive model, we confirm an association between hip osteoarthritis and a variant of CHADL1(rs117018441, P= 1.8 × 10−25, OR = 5.9). Furthermore, we observe a complex relationship between height and risk of osteoarthritis.

Published
2018
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7. A community effort towards a knowledge-base and mathematical model of the human pathogen Salmonella Typhimurium LT2.

Author

Thiele, Ines, Hyduke, Daniel R., Steeb, Benjamin, Fankam, Guy, Allen, Douglas K., Bazzani, Susanna, Charusanti, Pep, Chen, Feng-Chi, Fleming, Ronan MT, Hsiung, Chao A., De Keersmaecker, Sigrid C. J., Liao, Yu-Chieh, Marchal, Kathleen, Mo, Monica L., Ozdemir, Emre, Raghunathan, Anu, Reed, Jennifer L., Shin, Sook-Il, Sigurbjornsdottir, Sara, Steinmann, Jonas, Sudarsan, Suresh, Swainston, Neil, Thijs, Inge M., Zengler, Karsten, Palsson, Bernhard O., Adkins, Joshua N., Bumann, Dirk, Thiele, Ines, Hyduke, Daniel R., Steeb, Benjamin, Fankam, Guy, Allen, Douglas K., Bazzani, Susanna, Charusanti, Pep, Chen, Feng-Chi, Fleming, Ronan MT, Hsiung, Chao A., De Keersmaecker, Sigrid C. J., Liao, Yu-Chieh, Marchal, Kathleen, Mo, Monica L., Ozdemir, Emre, Raghunathan, Anu, Reed, Jennifer L., Shin, Sook-Il, Sigurbjornsdottir, Sara, Steinmann, Jonas, Sudarsan, Suresh, Swainston, Neil, Thijs, Inge M., Zengler, Karsten, Palsson, Bernhard O., Adkins, Joshua N., and Bumann, Dirk

Abstract

BACKGROUND: Metabolic reconstructions (MRs) are common denominators in systems biology and represent biochemical, genetic, and genomic (BiGG) knowledge-bases for target organisms by capturing currently available information in a consistent, structured manner. Salmonella enterica subspecies I serovar Typhimurium is a human pathogen, causes various diseases and its increasing antibiotic resistance poses a public health problem. RESULTS: Here, we describe a community-driven effort, in which more than 20 experts in S. Typhimurium biology and systems biology collaborated to reconcile and expand the S. Typhimurium BiGG knowledge-base. The consensus MR was obtained starting from two independently developed MRs for S. Typhimurium. Key results of this reconstruction jamboree include i) development and implementation of a community-based workflow for MR annotation and reconciliation; ii) incorporation of thermodynamic information; and iii) use of the consensus MR to identify potential multi-target drug therapy approaches. CONCLUSION: Taken together, with the growing number of parallel MRs a structured, community-driven approach will be necessary to maximize quality while increasing adoption of MRs in experimental design and interpretation.

Published
2011

8. A Genome-Wide Screen for Dendritically Localized RNAs Identifies Genes Required for Dendrite Morphogenesis.

Author

Misra M, Edmund H, Ennis D, Schlueter MA, Marot JE, Tambasco J, Barlow I, Sigurbjornsdottir S, Mathew R, Vallés AM, Wojciech W, Roth S, Davis I, Leptin M, and Gavis ER

Subjects
Animals, Drosophila melanogaster genetics, Drosophila melanogaster growth & development, Gene Expression Regulation, Developmental, Genome, Insect, Genome-Wide Association Study, Larva genetics, Larva growth & development, Neurons metabolism, Sensory Receptor Cells metabolism, Dendrites genetics, Morphogenesis genetics, Neurogenesis genetics, Peripheral Nervous System growth & development, RNA, Messenger genetics
Abstract

Localizing messenger RNAs at specific subcellular sites is a conserved mechanism for targeting the synthesis of cytoplasmic proteins to distinct subcellular domains, thereby generating the asymmetric protein distributions necessary for cellular and developmental polarity. However, the full range of transcripts that are asymmetrically distributed in specialized cell types, and the significance of their localization, especially in the nervous system, are not known. We used the EP-MS2 method, which combines EP transposon insertion with the MS2/MCP in vivo fluorescent labeling system, to screen for novel localized transcripts in polarized cells, focusing on the highly branched Drosophila class IV dendritic arborization neurons. Of a total of 541 lines screened, we identified 55 EP-MS2 insertions producing transcripts that were enriched in neuronal processes, particularly in dendrites. The 47 genes identified by these insertions encode molecularly diverse proteins, and are enriched for genes that function in neuronal development and physiology. RNAi-mediated knockdown confirmed roles for many of the candidate genes in dendrite morphogenesis. We propose that the transport of mRNAs encoded by these genes into the dendrites allows their expression to be regulated on a local scale during the dynamic developmental processes of dendrite outgrowth, branching, and/or remodeling., (Copyright © 2016 Misra et al.)

Published
2016
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