Sensing of RNA stress by mTORC1 drives autoinflammation

por Lee-Kirsch, Min Ae
Publicado 2022

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

por Girschick, Hermann, Wolf, Christine, Morbach, Henner, Hertzberg, Christoph, Lee-Kirsch, Min Ae
Publicado 2015

The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1

por Yan, Nan, Regalado-Magdos, Ashton D., Stiggelbout, Bart, Lee-Kirsch, Min Ae, Lieberman, Judy
Publicado 2010

Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis

por Strauss, Timmy, Günther, Claudia, Schnabel, Anja, Wolf, Christine, Hahn, Gabriele, Lee-Kirsch, Min Ae, Brück, Normi
Publicado 2023

Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood

por Günther, Claudia, Wolf, Christine, Fennen, Louisa, Rösing, Sarah, Beissert, Stefan, Aringer, Martin, Lee-Kirsch, Min Ae
Publicado 2023

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report

por Broser, Philip, von Mengershausen, Ursula, Heldt, Katrin, Bartholdi, Deborah, Braun, Dominique, Wolf, Christine, Lee-Kirsch, Min Ae
Publicado 2022

Seltene Erkrankungen in den Daten sichtbar machen – Kodierung

por Martin, Tamara, Rommel, Kathrin, Thomas, Carina, Eymann, Jutta, Kretschmer, Tanita, Berner, Reinhard, Lee-Kirsch, Min Ae, Hebestreit, Helge
Publicado 2022

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

por Skrabl-Baumgartner, Andrea, Plecko, Barbara, Schmidt, Wolfgang M., König, Nadja, Hershfield, Michael, Gruber-Sedlmayr, Ursula, Lee-Kirsch, Min Ae
Publicado 2017

Multiple sclerosis–like lesions and type I interferon signature in a patient with RVCL

por Schuh, Elisabeth, Ertl-Wagner, Birgit, Lohse, Peter, Wolf, Waltraud, Mann, Johannes F., Lee-Kirsch, Min Ae, Hohlfeld, Reinhard, Kümpfel, Tania
Publicado 2014

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

por Körholz, Julia, Lucas, Nadja, Boiti, Franziska, Althaus, Karina, Tiebel, Oliver, Fang, Mingyan, Berner, Reinhard, Lee-Kirsch, Min Ae, Knöfler, Ralf
Publicado 2020

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors

por Sürün, Duran, Schneider, Aksana, Mircetic, Jovan, Neumann, Katrin, Lansing, Felix, Paszkowski-Rogacz, Maciej, Hänchen, Vanessa, Lee-Kirsch, Min Ae, Buchholz, Frank
Publicado 2020

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes

por Hasan, Maroof, Koch, James, Rakheja, Dinesh, Pattnaik, Asit K., Brugarolas, James, Dozmorov, Igor, Levine, Beth, Wakeland, Edward K., Lee-kirsch, Min Ae, Yan, Nan
Publicado 2012

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...

por 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.
Publicado 2021

Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

por 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
Publicado 2011

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

por 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
Publicado 2019

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

por 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
Publicado 2016

SAMHD1 prevents autoimmunity by maintaining genome stability

por 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
Publicado 2015

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation

por 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
Publicado 2021

Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance

por 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
Publicado 2015

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

por Wan, Rensheng, Fänder, Johannes, Zakaraia, Ia, Lee-Kirsch, Min Ae, Wolf, Christine, Lucas, Nadja, Olfe, Lisa Isabel, Hendrich, Corinna, Jonigk, Danny, Holzinger, Dirk, Steindor, Mathis, Schmidt, Gunnar, Davenport, Claudia, Klemann, Christian, Schwerk, Nicolaus, Griese, Matthias, Schlegelberger, Brigitte, Stehling, Florian, Happle, Christine, Auber, Bernd, Steinemann, Doris, Wetzke, Martin, von Hardenberg, Sandra
Publicado 2022