検索結果 - Lee-Kirsch, Min Ae

Sensing of RNA stress by mTORC1 drives autoinflammation 著者: Lee-Kirsch, Min Ae

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Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene 著者: Girschick, Hermann, Wolf, Christine, Morbach, Henner, Hertzberg, Christoph, Lee-Kirsch, Min Ae

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The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1 著者: Yan, Nan, Regalado-Magdos, Ashton D., Stiggelbout, Bart, Lee-Kirsch, Min Ae, Lieberman, Judy

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Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report 著者: Broser, Philip, von Mengershausen, Ursula, Heldt, Katrin, Bartholdi, Deborah, Braun, Dominique, Wolf, Christine, Lee-Kirsch, Min Ae

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Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation 著者: Zimmermann, Nick, Wolf, Christine, Schwenke, Reiner, Lüth, Anne, Schmidt, Franziska, Engel, Kerstin, Lee-Kirsch, Min Ae, Günther, Claudia

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Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation 著者: Skrabl-Baumgartner, Andrea, Plecko, Barbara, Schmidt, Wolfgang M., König, Nadja, Hershfield, Michael, Gruber-Sedlmayr, Ursula, Lee-Kirsch, Min Ae

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Multiple sclerosis–like lesions and type I interferon signature in a patient with RVCL 著者: Schuh, Elisabeth, Ertl-Wagner, Birgit, Lohse, Peter, Wolf, Waltraud, Mann, Johannes F., Lee-Kirsch, Min Ae, Hohlfeld, Reinhard, Kümpfel, Tania

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Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation 著者: Körholz, Julia, Lucas, Nadja, Boiti, Franziska, Althaus, Karina, Tiebel, Oliver, Fang, Mingyan, Berner, Reinhard, Lee-Kirsch, Min Ae, Knöfler, Ralf

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Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors 著者: Sürün, Duran, Schneider, Aksana, Mircetic, Jovan, Neumann, Katrin, Lansing, Felix, Paszkowski-Rogacz, Maciej, Hänchen, Vanessa, Lee-Kirsch, Min Ae, Buchholz, Frank

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Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p 著者: Lee-Kirsch, Min Ae, Gong, Maolian, Schulz, Herbert, Rüschendorf, Franz, Stein, Annette, Pfeiffer, Christiane, Ballarini, Annalisa, Gahr, Manfred, Hubner, Norbert, Linné, Maja

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Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes 著者: Hasan, Maroof, Koch, James, Rakheja, Dinesh, Pattnaik, Asit K., Brugarolas, James, Dozmorov, Igor, Levine, Beth, Wakeland, Edward K., Lee-kirsch, Min Ae, Yan, Nan

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An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Fede... 著者: Choukair, Daniela, Hauck, Fabian, Bettendorf, Markus, Krude, Heiko, Klein, Christoph, Bäumer, Tobias, Berner, Reinhard, Lee-Kirsch, Min Ae, Grasemann, Corinna, Burgard, Peter, Hoffmann, Georg F.

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Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype 著者: Rohayem, Julia, Ehlers, Christian, Wiedemann, Bärbel, Holl, Reinhard, Oexle, Konrad, Kordonouri, Olga, Salzano, Giuseppina, Meissner, Thomas, Burger, Walter, Schober, Edith, Huebner, Angela, Lee-Kirsch, Min Ae

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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation 著者: Tüngler, Victoria, Doebler-Neumann, Marion, Salandin, Michaela, Kaufmann, Peter, Wolf, Christine, Lucas, Nadja, Harmuth, Florian, Reichbauer, Jennifer, Krägeloh-Mann, Ingeborg, Schüle, Rebecca, Lee-Kirsch, Min Ae

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Hemophagocytic lymphohistiocytosis–like hyperinflammation due to a de novo mutation in DPP9 著者: Wolf, Christine, Fischer, Hannah, Kühl, Jörn-Sven, Koss, Sarah, Jamra, Rami Abou, Starke, Sven, Schultz, Jurek, Ehl, Stephan, Neumann, Katrin, Schuetz, Catharina, Huber, Robert, Hornung, Veit, Lee-Kirsch, Min Ae

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RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA 著者: Wolf, Christine, Rapp, Alexander, Berndt, Nicole, Staroske, Wolfgang, Schuster, Max, Dobrick-Mattheuer, Manuela, Kretschmer, Stefanie, König, Nadja, Kurth, Thomas, Wieczorek, Dagmar, Kast, Karin, Cardoso, M. Cristina, Günther, Claudia, Lee-Kirsch, Min Ae

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Rat hd Mutation Reveals an Essential Role of Centrobin in Spermatid Head Shaping and Assembly of the Head-Tail Coupling Apparatus 著者: Liška, František, Gosele, Claudia, Rivkin, Eugene, Tres, Laura, Cardoso, M. Cristina, Domaing, Petra, Krejčí, Eliška, Šnajdr, Pavel, Lee-Kirsch, Min Ae, de Rooij, Dirk G., Křen, Vladimír, Křenová, Drahomíra, Kierszenbaum, Abraham L., Hubner, Norbert

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SAMHD1 prevents autoimmunity by maintaining genome stability 著者: Kretschmer, Stefanie, Wolf, Christine, König, Nadja, Staroske, Wolfgang, Guck, Jochen, Häusler, Martin, Luksch, Hella, Nguyen, Laura A, Kim, Baek, Alexopoulou, Dimitra, Dahl, Andreas, Rapp, Alexander, Cardoso, M Cristina, Shevchenko, Anna, Lee-Kirsch, Min Ae

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Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation 著者: Meinhardt, Andrea, Ramos, Paula C., Dohmen, R. Jürgen, Lucas, Nadja, Lee-Kirsch, Min Ae, Becker, Benjamin, de Laffolie, Jan, Cunha, Tomás, Niehues, Tim, Salzer, Ulrich, Yoshimi, Ayami, Erlacher, Miriam, Peters, Anke M. J., Ehl, Stephan, Strahm, Brigitte, Speckmann, Carsten

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Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance 著者: Esparza-Gordillo, Jorge, Matanovic, Anja, Marenholz, Ingo, Bauerfeind, Anja, Rohde, Klaus, Nemat, Katja, Lee-Kirsch, Min-Ae, Nordenskjöld, Magnus, Winge, Marten C. G., Keil, Thomas, Krüger, Renate, Lau, Susanne, Beyer, Kirsten, Kalb, Birgit, Niggemann, Bodo, Hübner, Norbert, Cordell, Heather J., Bradley, Maria, Lee, Young-Ae

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