Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Min Ae Lee"'
Publikováno v:
Molecular and Cellular Pediatrics, Vol 11, Iss 1, Pp 1-7 (2024)
Abstract Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterized by loss of tolerance to nuclear antigens. The formation of autoantibodies and the deposition of immune complexes trigger inflammatory tissue damage that can
Externí odkaz:
https://doaj.org/article/df6ee2b0a2b441df806fc67dd96e7cf7
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-6 (2024)
Abstract Background STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overactivation of type
Externí odkaz:
https://doaj.org/article/9c3ece32fb244e11b0b443255eef6753
Autor:
Timmy Strauss, Claudia Günther, Anja Schnabel, Christine Wolf, Gabriele Hahn, Min Ae Lee-Kirsch, Normi Brück
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-5 (2023)
Abstract Background Juvenile dermatomyositis (jDM) is the most common idiopathic inflammatory myopathy of childhood. Amyopathic or hypomyopathic courses have been described. Case presentation We present the case of a 4-year-old patient with MDA5 anti
Externí odkaz:
https://doaj.org/article/b5ae5e0630384da8851db3bd50a18510
Autor:
Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Purpose The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the context of rare diseases (RDs
Externí odkaz:
https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374
Autor:
Claudia Günther, Christine Wolf, Louisa Fennen, Sarah Rösing, Stefan Beissert, Martin Aringer, Min Ae Lee-Kirsch
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Cutaneous lupus erythematosus (CLE), the main manifestation of systemic lupus erythematosus (SLE), is driven by type I interferons (IFNs) and often only partially responds to conventional therapies. Treatment of seven SLE patients with the monoclonal
Externí odkaz:
https://doaj.org/article/24227deebb4a4ef88a44ee82995242c7
Autor:
Philip Broser, Ursula von Mengershausen, Katrin Heldt, Deborah Bartholdi, Dominique Braun, Christine Wolf, Min Ae Lee-Kirsch
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-6 (2022)
Abstract Background Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor MDA5 which senses viral dsRNA and activates antiviral type I
Externí odkaz:
https://doaj.org/article/6b45a43e73554bc2b076042f53de380c
Autor:
Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard, Georg F. Hoffmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, whole exome and whole
Externí odkaz:
https://doaj.org/article/87d0b039802740118b8a8dc67a58c094
Autor:
Vanessa Hänchen, Stefanie Kretschmer, Christine Wolf, Kerstin Engel, Shahryar Khattak, Katrin Neumann, Min Ae Lee-Kirsch
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102895- (2022)
Mutations in TREX1, encoding three prime repair exonuclease 1, cause Aicardi-Goutières syndrome (AGS) 1, an autoinflammatory disease characterized by neurodegeneration and constitutive activation of the antiviral cytokine type I interferon. Here, we
Externí odkaz:
https://doaj.org/article/fcb43ec64a754d08a33bdb8b8bbe2e94
Autor:
Rensheng Wan, Johannes Fänder, Ia Zakaraia, Min Ae Lee-Kirsch, Christine Wolf, Nadja Lucas, Lisa Isabel Olfe, Corinna Hendrich, Danny Jonigk, Dirk Holzinger, Mathis Steindor, Gunnar Schmidt, Claudia Davenport, Christian Klemann, Nicolaus Schwerk, Matthias Griese, Brigitte Schlegelberger, Florian Stehling, Christine Happle, Bernd Auber, Doris Steinemann, Martin Wetzke, Sandra von Hardenberg
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants have been reported
Externí odkaz:
https://doaj.org/article/25fe0ff95b034185a86e473bcbc015c8
Autor:
Vanessa Hänchen, Stefanie Kretschmer, Christine Wolf, Kerstin Engel, Shahryar Khattak, Katrin Neumann, Min Ae Lee-Kirsch
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102912- (2022)
Mutations in SAMHD1, encoding SAM and HD domain-containing protein 1, cause Aicardi-Goutières syndrome (AGS) 5, an infancy-onset autoinflammatory disease characterized by neurodegeneration and chronic activation of type I interferon. Here, we report
Externí odkaz:
https://doaj.org/article/3586418d6aa5442a809b8b1bdae9854d