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Browsing by Subject "DNA-rannsóknir"

Browsing by Subject "DNA-rannsóknir"

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  • Smid, Marcel; Wilting, Saskia M.; Uhr, Katharina; Rodríguez-González, F. Germán; de Weerd, Vanja; Prager-Van der Smissen, Wendy J.C.; van der Vlugt-Daane, Michelle; van Galen, Anne; Nik-Zainal, Serena; Butler, Adam; Martin, Sancha; Davies, Helen R.; Staaf, Johan; van de Vijver, Marc J.; Richardson, Andrea L.; MacGrogan, Gaëten; Salgado, Roberto; van den Eynden, Gert G.G.M.; Purdie, Colin A.; Thompson, Alastair M.; Caldas, Carlos; Span, Paul N.; Sweep, Fred C.G.J.; Simpson, Peter T.; Lakhani, Sunil R.; Van Laere, Steven; Desmedt, Christine; Paradiso, Angelo; Eyfjörð, Jórunn Erla; Broeks, Annegien; Vincent-Salomon, Anne; Futreal, Andrew P.; Knappskog, Stian; King, Tari; Viari, Alain; Børresen-Dale, Anne-Lise; Stunnenberg, Hendrik G.; Stratton, Mike; Foekens, John A.; Sieuwerts, Anieta M.; Martens, John W.M. (Cold Spring Harbor Laboratory, 2019-01-28)
    Circular RNAs (circRNAs) are a class of RNAs that is under increasing scrutiny, although their functional roles are debated. We analyzed RNA-seq data of 348 primary breast cancers and developed a method to identify circRNAs that does not rely on unmapped ...
  • Lopes-Marques, Mónica; Machado, André M; Alves, Luís Q; Fonseca, Miguel M; Barbosa, Susana; Sinding, Mikkel-Holger S; Rasmussen, Marianne; Iversen, Maria Refsgaard; Frost Bertelsen, Mads; Campos, Paula F; da Fonseca, Rute; Ruivo, Raquel; Castro, L Filipe C (Oxford University Press (OUP), 2019-03-20)
    Genomes are dynamic biological units, with processes of gene duplication and loss triggering evolutionary novelty. The mammalian skin provides a remarkable case study on the occurrence of adaptive morphological innovations. Skin sebaceous glands (SGs), ...
  • Frick, Elisabet; Gudjonsson, Thorkell; Eyfjörð, Jórunn Erla; Jonasson, Jon; Tryggvadóttir, Laufey; Stefansson, Olafur; Sigurdsson, Stefan (Impact Journals, LLC, 2019-07-23)
    Estrogen receptor-positive breast cancer is subdivided into subtypes LuminalA and LuminalB, based on different expression patterns. MicroRNA-190b has been reported to be up-regulated in estrogen receptor-positive breast cancers. In this study we aimed ...
  • Gränz, Markus; Erlenbach, Nicole; Spindler, Philipp; Gophane, Dnyaneshwar B.; Stelzl, Lukas S.; Sigurdsson, Snorri; Prisner, Thomas F. (Wiley, 2018-08-13)
    The investigation of the structure and conformational dynamics of biomolecules under physiological conditions is challenging for structural biology. Although pulsed electron paramagnetic resonance (like PELDOR) techniques provide long‐range distance ...
  • Hermanowicz, Stefan (University of Iceland, School of Health Sciences, Faculty of Medicine, 2019-05)
    The DNA damage response is crucial to maintaining the integrity of DNA and the health of a cell. Unrepaired lesions within the DNA can lead to genomic instability and potentially aid in the formation of diseases such as cancer. Some cancers possess ...
  • Grytz, C. M.; Marko, A.; Cekan, P.; Sigurdsson, Snorri; Prisner, Thomas F. (Royal Society of Chemistry (RSC), 2016)
    The cocaine aptamer is a DNA three-way junction that binds cocaine at its helical junction. We studied the global conformation and overall flexibility of the aptamer in the absence and presence of cocaine by pulsed electron-electron double resonance ...
  • van Setten, Jessica; Verweij, Niek; Mbarek, Hamdi; Niemeijer, Maartje N.; Trompet, Stella; Arking, Dan E.; Brody, Jennifer A.; Gandin, Ilaria; Grarup, Niels; Hall, Leanne M.; Hemerich, Daiane; Lyytikäinen, Leo-Pekka; Mei, Hao; Müller-Nurasyid, Martina; Prins, Bram P.; Robino, Antonietta; Smith, Albert Vernon; Warren, Helen R.; Asselbergs, Folkert W.; Boomsma, Dorret I.; Caulfield, Mark J.; Eijgelsheim, Mark; Ford, Ian; Hansen, Torben; Harris, Tamara B.; Heckbert, Susan R.; Hottenga, Jouke-Jan; Iorio, Annamaria; Kors, Jan A.; Linneberg, Allan; MacFarlane, Peter W.; Meitinger, Thomas; Nelson, Christopher P.; Raitakari, Olli T.; Silva Aldana, Claudia T.; Sinagra, Gianfranco; Sinner, Moritz; Soliman, Elsayed Z.; Stoll, Monika; Uitterlinden, Andre; van Duijn, Cornelia M.; Waldenberger, Melanie; Alonso, Alvaro; Gasparini, Paolo; Gudnason, Vilmundur; Jamshidi, Yalda; Kääb, Stefan; Kanters, Jørgen K.; Lehtimäki, Terho; Munroe, Patricia B.; Peters, Annette; Samani, Nilesh J.; Sotoodehnia, Nona; Ulivi, Sheila; Wilson, James G.; de Geus, Eco J. C.; Jukema, J. Wouter; Stricker, Bruno; van der Harst, Pim; de Bakker, Paul I. W.; Isaacs, Aaron (Springer Science and Business Media LLC, 2019-01-24)
    Genome-wide association studies (GWAS) of quantitative electrocardiographic (ECG) traits in large consortia have identified more than 130 loci associated with QT interval, QRS duration, PR interval, and heart rate (RR interval). In the current study, ...
  • Eggertsson, Hannes; Kristmundsdóttir, Snædís; Beyter, Doruk; Jónsson, Hákon; Skúladóttir, Ástrós; Hardarson, Marteinn; Gudbjartsson, Daniel; Stefansson, Kari; Halldórsson, Bjarni; Melsted, Páll (Springer Science and Business Media LLC, 2019-11-27)
    Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted in sequence analysis studies, although each has a relatively large impact on the genome. Here, we present GraphTyper2, ...
  • Eggertsson, Hannes (University of Iceland, School of Engineering and Natural Sciences, Faculty of Industrial Engineering, Mechanical Engineering and Computer Science, 2019-06)
    A fundamental requisite for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to utilize this knowledge in sequence analysis. ...
  • Heinz, Marcel; Erlenbach, Nicole; Stelzl, Lukas S; Thierolf, Grace; Kamble, Nilesh Ramesh; Sigurdsson, Snorri; Prisner, Thomas F.; Hummer, Gerhard (Oxford University Press (OUP), 2019-11-28)
    Pulsed electron paramagnetic resonance (EPR) experiments, among them most prominently pulsed electron-electron double resonance experiments (PELDOR/DEER), resolve the conformational dynamics of nucleic acids with high resolution. The wide application ...
  • Czamara, Darina; Sigurdsson, Engilbert; Stefansson, Kari (Springer Science and Business Media LLC, 2019-06-11)
    Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions ...
  • Saha, Subham; Hetzke, Thilo; Prisner, Thomas F.; Sigurdsson, Snorri (Royal Society of Chemistry (RSC), 2018)
    In the first example of site-directed spin-labeling of unmodified RNA, a pyrrolidine-nitroxide derivative of tetramethylrosamine (TMR) was shown to bind with high affinity to the malachite green (MG) aptamer, as determined by continuous-wave (CW) ...
  • Guðmundsson, Bjarki; Þormar, Hans G; Sigurðsson, Albert; Dankers, Wendy; Steinarsdóttir, Margrét; Hermanowicz, Stefan; Sigurðsson, Stefán; Ólafsson, Davið; Halldorsdottir, Anna; Meyn, Stephen; Jonsson, Jon J. (Oxford University Press (OUP), 2018-07-24)
    DNA damage assays have various limitations in types of lesions detected, sensitivity, specificity and samples that can be analyzed. The Northern Lights Assay (NLA) is based on 2D Strandness-Dependent Electrophoresis (2D-SDE), a technique that separates ...
  • Gophane, Dnyaneshwar B.; Endeward, Burkhard; Prisner, Thomas F.; Sigurdsson, Snorri (Royal Society of Chemistry (RSC), 2018)
    A new isoindoline-derived benzimidazole nitroxide spin label, ImUm, was synthesized and incorporated into RNA oligoribonucleotides. ImUm is the first example of a conformationally unambiguous spin label for RNA, in which the nitroxide N–O bond lies on ...
  • Saha, Subham; Jagtap, Anil P.; Sigurdsson, Snorri (Royal Society of Chemistry (RSC), 2015)
    Two aromatic isothiocyanates, derived from isoindoline nitroxides, were synthesized and selectively reacted with 2′-amino groups in RNA. The spin labels displayed limited mobility in RNA, making them promising candidates for distance measurements by ...
  • Gustmann, Henrik; Segler, Anna-Lena J; Gophane, Dnyaneshwar B; Reuss, Andreas J; Grünewald, Christian; Braun, Markus; Weigand, Julia; Sigurdsson, Snorri; Wachtveitl, Josef (Oxford University Press (OUP), 2018-11-20)
    The ability of the cytidine analog Ç m f to act as a position specific reporter of RNA-dynamics was spectroscopically evaluated. Ç m f-labeled single-and double-stranded RNAs differ in their fluorescence lifetimes, quantum yields and anisotropies. These ...
  • Jónsson, Hákon; Sulem, Patrick; Kehr, Birte; Kristmundsdóttir, Snædís; Zink, Florian; Hjartarson, Eiríkur; Hardarson, Marteinn; Hjorleifsson, Kristjan; Eggertsson, Hannes; Guðjónsson, Sigurjón Axel; Ward, Lucas D.; Arnadottir, Gudny; Helgason, Einar A.; Helgason, Hannes; Gylfason, Arnaldur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Rafnar, Thorunn; Besenbacher, Soren; Frigge, Michael L.; Stacey, Simon N.; Magnússon, Ólafur T.; Þorsteinsdóttir, Unnur; Másson, Gísli; Kong, Augustine; Halldórsson, Bjarni; Helgason, Agnar; Gudbjartsson, Daniel; Stefansson, Kari (Springer Nature, 2017-09-21)
    Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide ...