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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS
Cetin Gedik, Kader, Lamot, Lovro, Romano, Micol, Demirkaya, Erkan, Piskin, David, Torreggiani, Sofia, Adang, Laura A., Armangue, Thais, Barchus, Kathe, Cordova, Devon R., Crow, Yanick J., Dale, Russell C., Durrant, Karen L., Eleftheriou, Despina, Fazzi, Elisa M., Gattorno, Marco, Gavazzi, Francesco, Hanson, Eric P., Lee‐Kirsch, Min Ae, Montealegre Sanchez, Gina A., Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Poli, M. Cecilia, Schumacher, Elliot, Tonduti, Davide, Uss, Katsiaryna, Aletaha, Daniel, Feldman, Brian M., Vanderver, Adeline, Brogan, Paul A., Goldbach‐Mansky, Raphaela
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2022)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2022)
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Journal Article
Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?
Heinen, André, Schnabel, Anja, Brück, Normi, Smitka, Martin, Wolf, Christine, Lucas, Nadja , Dollinger, Stefanie, Hahn, Gabriele, Günther, Claudia, Berner, Reinhard, Lee-Kirsch, Min Ae, Schuetz, Catharina
Published in Rheumatology (Oxford, England) (06.04.2021)
Published in Rheumatology (Oxford, England) (06.04.2021)
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Journal Article
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation
Bienias, Marc, Gabrielyan, Anastasia, Geberzahn, Linda, Rösen‐Wolff, Angela, Huebner, Angela, Jacobsen, Eva‐Maria, Toepfner, Nicole, Fang, Mingyan, Lee‐Kirsch, Min Ae, Roesler, Joachim, Schuetz, Catharina, Atanaskovic‐Markovic, Marina
Published in Pediatric allergy and immunology (01.05.2021)
Published in Pediatric allergy and immunology (01.05.2021)
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Journal Article
Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema
Marenholz, Ingo, Gimenez Rivera, Vladimir A., Esparza-Gordillo, Jorge, Bauerfeind, Anja, Lee-Kirsch, Min-Ae, Ciechanowicz, Andrzej, Kurek, Michael, Piskackova, Tereza, Macek, Milan, Lee, Young-Ae
Published in Journal of investigative dermatology (01.08.2011)
Published in Journal of investigative dermatology (01.08.2011)
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Journal Article
Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance
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
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA
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
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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Journal Article
Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors
Sürün, Duran, Schneider, Aksana, Mircetic, Jovan, Neumann, Katrin, Lansing, Felix, Paszkowski-Rogacz, Maciej, Hänchen, Vanessa, Lee-Kirsch, Min Ae, Buchholz, Frank
Published in Genes (06.05.2020)
Published in Genes (06.05.2020)
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Journal Article
Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood
Günther, Claudia, Wolf, Christine, Fennen, Louisa, Rösing, Sarah, Beissert, Stefan, Aringer, Martin, Lee-Kirsch, Min Ae
Published in Frontiers in immunology (21.09.2023)
Published in Frontiers in immunology (21.09.2023)
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Journal Article
A common variant on chromosome 11q13 is associated with atopic dermatitis
Esparza-Gordillo, Jorge, Weidinger, Stephan, Fölster-Holst, Regina, Bauerfeind, Anja, Ruschendorf, Franz, Patone, Giannino, Rohde, Klaus, Marenholz, Ingo, Schulz, Florian, Kerscher, Tamara, Hubner, Norbert, Wahn, Ulrich, Schreiber, Stefan, Franke, Andre, Vogler, Rainer, Heath, Simon, Baurecht, Hansjörg, Novak, Natalija, Rodriguez, Elke, Illig, Thomas, Lee-Kirsch, Min-Ae, Ciechanowicz, Andrzej, Kurek, Michael, Piskackova, Tereza, Macek, Milan, Lee, Young-Ae, Ruether, Andreas
Published in Nature genetics (01.05.2009)
Published in Nature genetics (01.05.2009)
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Journal Article
Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs
Achleitner, Martin, Kleefisch, Martin, Hennig, Alexander, Peschke, Katrin, Polikarpova, Anastasia, Oertel, Reinhard, Gabriel, Benjamin, Schulze, Livia, Lindeman, Dirk, Gerbaulet, Alexander, Fiebig, Uwe, Lee-Kirsch, Min Ae, Roers, Axel, Behrendt, Rayk
Published in The Journal of immunology (1950) (01.10.2017)
Published in The Journal of immunology (1950) (01.10.2017)
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Journal Article
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK
Kanderova, Veronika, Svobodova, Tamara, Borna, Simon, Fejtkova, Martina, Martinu, Vendula, Paderova, Jana, Svaton, Michael, Kralova, Jarmila, Fronkova, Eva, Klocperk, Adam, Pruhova, Stepanka, Lee-Kirsch, Min Ae, Hornofova, Ludmila, Koblizek, Miroslav, Novak, Petr, Zimmermannova, Olga, Parackova, Zuzana, Sediva, Anna, Kalina, Tomas, Janda, Ales, Kayserova, Jana, Dvorakova, Marcela, Macek, Milan, Pohunek, Petr, Sedlacek, Petr, Poh, Ashleigh, Ernst, Matthias, Brdicka, Tomas, Hrusak, Ondrej, Lebl, Jan
Published in Journal of allergy and clinical immunology (01.04.2022)
Published in Journal of allergy and clinical immunology (01.04.2022)
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Journal Article
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome
Ramantani, Georgia, Kohlhase, Jürgen, Hertzberg, Christoph, Innes, A. Micheil, Engel, Kerstin, Hunger, Susan, Borozdin, Wiktor, Mah, Jean K., Ungerath, Kristina, Walkenhorst, Hartmut, Richardt, Hans‐Helmut, Buckard, Johannes, Bevot, Andrea, Siegel, Corinna, von Stülpnagel, Celina, Ikonomidou, Chrysanthy, Thomas, Kara, Proud, Virginia, Niemann, Frank, Wieczorek, Dagmar, Häusler, Martin, Niggemann, Pascal, Baltaci, Volkan, Conrad, Karsten, Lebon, Pierre, Lee‐Kirsch, Min Ae
Published in Arthritis and rheumatism (01.05.2010)
Published in Arthritis and rheumatism (01.05.2010)
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Journal Article
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 Federal Joint Committee
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.
Published in Orphanet journal of rare diseases (12.11.2021)
Published in Orphanet journal of rare diseases (12.11.2021)
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Journal Article
Transition for adolescents with a rare disease: results of a nationwide German project
Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M., Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J., Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias, Mittnacht, Janna, Schramm, Christoph, Klein, Christoph, Graessner, Holm, Hiort, Olaf, Muntau, Ania C., Grüters, Annette, Hoffmann, Georg F., Choukair, Daniela
Published in Orphanet journal of rare diseases (25.04.2023)
Published in Orphanet journal of rare diseases (25.04.2023)
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Journal Article
Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family
Bauer, Ann-Kathrin, Marquardt, Iris, Sundermann, Benedikt, Wolf, Christine, Raupach, Katrin, Grundmann-Hauser, Kathrin, Gieldon, Laura, Otterbach, Maximilian, Maurer, Martin, Haack, Tobias, Lee-Kirsch, Min Ae, Korenke, Georg-Christoph, Hitz, Marc-Phillip
Published in Frontiers in immunology (2025)
Published in Frontiers in immunology (2025)
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Journal Article
Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations
Hänchen, Vanessa, Kretschmer, Stefanie, Wolf, Christine, Engel, Kerstin, Khattak, Shahryar, Neumann, Katrin, Lee-Kirsch, Min Ae
Published in Stem cell research (01.10.2022)
Published in Stem cell research (01.10.2022)
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Journal Article