Research Topics
| Min Ae Lee KirschSummaryCountry: Germany Publications
| Collaborators
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Detail Information
Publications
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)Dalia Toaima
Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Dresden, Germany
Hum Mutat 25:503-4. 2005..Knowledge of the genetic cause of MODY has significant impact on therapeutic decision making and may help to identify family members at risk for diabetes...- Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosusMin Ae Lee-Kirsch
Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, 01307 Dresden, Germany
Nat Genet 39:1065-7. 2007..1 x 10(-7)). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE... 
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3pMin Ae Lee-Kirsch
Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Dresden, Germany
Am J Hum Genet 79:731-7. 2006..Identification of the gene responsible for familial chilblain lupus may shed light on the pathogenesis of common forms of connective-tissue disease such as systemic lupus erythematosus...- A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupusMin Ae Lee-Kirsch
Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Fetscherstr 74, 01307, Dresden, Germany
J Mol Med (Berl) 85:531-7. 2007..Our findings also warrant further investigation of TREX1 in common forms of lupus erythematosus... 
Chilblain lupus erythematosus--a review of literatureC M Hedrich
Department of Pediatric Rheumatology and Immunology, University Children s Hospital Dresden, Fetscherstr 74, 01307, Dresden, Germany
Clin Rheumatol 27:949-54. 2008..Improvement of phalangeal perfusion was demonstrated by angio-MRI...- Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 geneGeorgia Ramantani
Department of Pediatric Neurology, Technical University Dresden, Germany
J Child Neurol 24:333-7. 2009..Ala460Thr in exon 13 of the TSC2 gene. Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis... - Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndromeGeorgia Ramantani
Technische Universitat Dresden, Dresden, Germany
Arthritis Rheum 62:1469-77. 2010..In this study we further characterized the phenotypic spectrum of this disease... - Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypesAnnalisa Ballarini
Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Fetscherstr 74, 01307 Dresden, Germany
Ann N Y Acad Sci 1110:159-65. 2007..Identification of genetic factors predisposing to this syndrome may contribute to our understanding of common mechanisms involved in autoimmunity...