Search Results - "Falk, Elin"

Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11 by La Fleur, Linnéa, Falk-Sörqvist, Elin, Smeds, Patrik, Berglund, Anders, Sundström, Magnus, Mattsson, Johanna SM, Brandén, Eva, Koyi, Hirsh, Isaksson, Johan, Brunnström, Hans, Nilsson, Mats, Micke, Patrick, Moens, Lotte, Botling, Johan

“…•No technical bias between fresh frozen and FFPE samples.•A high fraction of adenocarcinoma patients with activating KRAS mutations.•Mutations in TP53, STK11…”
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DNA repair genes are selectively mutated in diffuse large B cell lymphomas by de Miranda, Noel F C C, Peng, Roujun, Georgiou, Konstantinos, Wu, Chenglin, Falk Sörqvist, Elin, Berglund, Mattias, Chen, Longyun, Gao, Zhibo, Lagerstedt, Kristina, Lisboa, Susana, Roos, Fredrik, van Wezel, Tom, Teixeira, Manuel R, Rosenquist, Richard, Sundström, Christer, Enblad, Gunilla, Nilsson, Mats, Zeng, Yixin, Kipling, David, Pan-Hammarström, Qiang

“…DNA repair mechanisms are fundamental for B cell development, which relies on the somatic diversification of the immunoglobulin genes by V(D)J recombination,…”
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Diagnostics of primary immunodeficiency diseases: a sequencing capture approach by Moens, Lotte N, Falk-Sörqvist, Elin, Asplund, A Charlotta, Bernatowska, Ewa, Smith, C I Edvard, Nilsson, Mats

“…Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to…”
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Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia by Mansouri, Larry, Sutton, Lesley-Ann, Ljungström, Viktor, Bondza, Sina, Arngården, Linda, Bhoi, Sujata, Larsson, Jimmy, Cortese, Diego, Kalushkova, Antonia, Plevova, Karla, Young, Emma, Gunnarsson, Rebeqa, Falk-Sörqvist, Elin, Lönn, Peter, Muggen, Alice F, Yan, Xiao-Jie, Sander, Birgitta, Enblad, Gunilla, Smedby, Karin E, Juliusson, Gunnar, Belessi, Chrysoula, Rung, Johan, Chiorazzi, Nicholas, Strefford, Jonathan C, Langerak, Anton W, Pospisilova, Sarka, Davi, Frederic, Hellström, Mats, Jernberg-Wiklund, Helena, Ghia, Paolo, Söderberg, Ola, Stamatopoulos, Kostas, Nilsson, Mats, Rosenquist, Richard

“…NF-κB is constitutively activated in chronic lymphocytic leukemia (CLL); however, the implicated molecular mechanisms remain largely unknown. Thus, we…”
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Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer by Mathot, Lucy, Kundu, Snehangshu, Ljungström, Viktor, Svedlund, Jessica, Moens, Lotte, Adlerteg, Tom, Falk-Sörqvist, Elin, Rendo, Verónica, Bellomo, Claudia, Mayrhofer, Markus, Cortina, Carme, Sundström, Magnus, Micke, Patrick, Botling, Johan, Isaksson, Anders, Moustakas, Aristidis, Batlle, Eduard, Birgisson, Helgi, Glimelius, Bengt, Nilsson, Mats, Sjöblom, Tobias

“…The contribution of somatic mutations to metastasis of colorectal cancers is currently unknown. To find mutations involved in the colorectal cancer metastatic…”
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Automated genotyping of biobank samples by multiplex amplification of insertion/deletion polymorphisms by Mathot, Lucy, Falk-Sörqvist, Elin, Moens, Lotte, Allen, Marie, Sjöblom, Tobias, Nilsson, Mats

“…The genomic revolution in oncology will entail mutational analyses of vast numbers of patient-matched tumor and normal tissue samples. This has meant an…”
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HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples by Moens, Lotte N.J, Falk-Sörqvist, Elin, Ljungström, Viktor, Mattsson, Johanna, Sundström, Magnus, La Fleur, Linnéa, Mathot, Lucy, Micke, Patrick, Nilsson, Mats, Botling, Johan

“…In recent years, the advent of massively parallel next-generation sequencing technologies has enabled substantial advances in the study of human diseases…”
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The Calcium-Dependent Interaction between S100B and the Mitochondrial AAA ATPase ATAD3A and the Role of This Complex in the Cytoplasmic Processing of ATAD3A by Gilquin, Benoît, Cannon, Brian R., Hubstenberger, Arnaud, Moulouel, Boualem, Falk, Elin, Merle, Nicolas, Assard, Nicole, Kieffer, Sylvie, Rousseau, Denis, Wilder, Paul T., Weber, David J., Baudier, Jacques

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene by Lundin, Karin E, Hamasy, Abdulrahman, Backe, Paul Hoff, Moens, Lotte N, Falk-Sörqvist, Elin, Elgstøen, Katja B, Mørkrid, Lars, Bjørås, Magnar, Granert, Carl, Norlin, Anna-Carin, Nilsson, Mats, Christensson, Birger, Stenmark, Stephan, Smith, C.I. Edvard

“…ABSTRACT Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for…”
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Recurrent Mutations within the Nfkbie gene: A Novel Mechanism for NF-κB Deregulation in Aggressive Chronic Lymphocytic Leukemia by Mansouri, Larry, Sutton, Lesley-Ann, Ljungstrom, Viktor, Bondza, Sina, Arngarden, Linda, Bhoi, Sujata, Larsson, Jimmy, Cortese, Diego, Kalushkova, Antonia, Gunnarsson, Rebeqa, Young, Emma, Falk-Sorqvist, Elin, Plevova, Karla, Muggen, Alice, Yan, Xiao-Jie, Sander, Birgitta, Enblad, Gunilla, Smedby, Karin E, Juliusson, Gunnar, Belessi, Chrysoula, Chiorazzi, Nicholas, Strefford, Jonathan C, Langerak, Anton W, Pospisilova, Sarka, Davi, Frederic, Hellstrom, Mats, Jernberg Wiklund, Helena, Ghia, Paolo, Soderberg, Ola, Stamatopoulos, Kostas, Nilsson, Mats, Rosenquist, Richard

“…Dysregulated NF-κB signaling appears to be particularly important in B-cell malignancies, with recurrent mutations identified within both the canonical and…”
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Dance and yoga reduced functional abdominal pain in young girls: A randomized controlled trial by Högström, Sofie, Philipson, Anna, Ekstav, Lars, Eriksson, Mats, Fagerberg, Ulrika L., Falk, Elin, Möller, Margareta, Sandberg, Elin, Särnblad, Stefan, Duberg, Anna

“…Background Functional abdominal pain disorders (FAPDs) affect children, especially girls, all over the world. The evidence for existing treatments is mixed,…”
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Targeted resequencing of candidate genes using selector probes by Johansson, H, Isaksson, M, Sörqvist, E. Falk, Roos, F, Stenberg, J, Sjöblom, T, Botling, J, Micke, P, Edlund, K, Fredriksson, S, Kultima, H. Göransson, Ericsson, Olle, Nilsson, Mats

“…Targeted genome enrichment is a powerful tool for making use of the massive throughput of novel DNA-sequencing instruments. We herein present a simple and…”
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Targeted Resequencing of Formalin-Fixed, Paraffin-Embedded (FFPE) Specimens for Mutation Diagnostics in Solid Tumors by Botling, Johan, Moens, Lotte N., Sorqvist, Elin Falk, Sundström, Magnus, Micke, Patrick, Nilsson, M.

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Abstract 1158: Single step multiplex amplification and barcoding of FFPE samples for Next-Gen sequencing by Isaksson, Magnus, Johansson, Henrik, Roos, Fredrik, Falk, Elin, Moens, Lotte, Ericsson, Olle, Nilsson, Mats

“…Abstract We present data outlining application of the Selector Technology to successfully amplify and sequence sets of exons in both fresh frozen and formalin…”
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Large-scale mutation analysis of primary immunodeficiency patients by next-generation sequencing by Asplund, A. C., Falk, Elin, Moens, Lotte, Kumar, Y., Bauser, C., Bernatowska, E., Nilsson, Mats, Smith, C. I. E.

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Abstract A09: Selector (HaloPlex) targeted resequencing of formalin-fixed paraffin-embedded (FFPE) specimens for mutation diagnostics in NSCLC by Botling, Johan, Moens, Lotte N.J., Falk-Sorqvist, Elin, LaFleur, Linnea, Sundstrom, Magnus, Micke, Patrick, Nilsson, Mats

“…Abstract In recent years, the advent of massively parallel “next-generation” sequencing technologies (NGS) has enabled substantial advances in the study of…”
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Clinical Validation of HaloPlex Targeted Resequencing in Formalin-Fixed, Paraffin-Embedded (FFPE) Cancer Biopsies by Moens, Lotte. N., Falk-Sörqvist, Elin, La Fleur, Linnea, Mattsson, Johanna, Bergfors, M., Sundström, M., Micke, Patrick, Nilsson, M., Botling, Johan

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Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach: e114901 by Moens, Lotte N, Falk-Sorqvist, Elin, Asplund, A Charlotta, Bernatowska, Ewa, Smith, C IEdvard, Nilsson, Mats

“…Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to…”
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Hypomorphic, Homozygous Mutations In Phosphoglucomutase-3 Impair Immunity And Increase Serum IgE Levels by Sassi, Atfa, Lazaroski, Sandra, Wu, Gang, Haslam, Stuart M., Mellouli, Fethi, Patiroglu, Turkan, Jouhadi, Zineb, Khadir, Khadija, Pfeifer, Dietmar, Jakob, Thilo, Khemiri, Monia, Ben-Mustapha, Imen, Asplund, Charlotta, Gustafsson, Manuela, Lundin, Karin, Falk-Sörqvist, Elin, Moens, Lotte, Unal, Ekrem, Ozdemir, Mehmet Akif, Gungor, Hatice Eke, Engelhardt, Karin, Dziadzio, Magdalena, Stauss, Hans, Fleckenstein, Bernhard, Fliegauf, Manfred, Meier, Rebecca, Ben-Khemis, Leila, Kraus, Helene, Nadifi, Sellama, Eibel, Hermann, Nilsson, Mats, Bejaoui, Mohamed, Schaeffer, Alejandro, Smith, Edvard, Dell, Anne, Barbouche, Mohamed-Ridha, Grimbacher, Bodo

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