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Min Ae Lee-Kirsch

Research Profile

Chemicals & Drugs

Physiology

Disorders

Living Beings

Heterozygote

Procedures

DNA Mutational Analysis

Concepts & Ideas

Genes & Molecular Sequences

Single Nucleotide Polymorphism

Anatomy

Hela Cells

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Publications

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Victoria Tüngler; Osvaldo Chara; Manuela Dobrick; Barbara Kind; Stefanie Kretschmer; Claudia Krug; Mike Lorenz; Franziska Schmidt; Petra Schwille; Wolfgang Staroske; Min Ae Lee-Kirsch
Single-stranded nucleic acids promote SAMHD1 complex formation.
Maroof Hasan; James Koch; Min Ae Lee-Kirsch; Beth Levine; Asit K Pattnaik; Dinesh Rakheja; Edward K Wakeland; James Brugarolas; Igor Dozmorov; Nan Yan
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.
V Tüngler; H Walkenhorst; C Günther; R M Silver; Min Ae Lee-Kirsch
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

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All Publications

2013: Victoria Tüngler; Osvaldo Chara; Manuela Dobrick; Barbara Kind; Stefanie Kretschmer; Claudia Krug; Mike Lorenz; Franziska Schmidt; Petra Schwille; Wolfgang Staroske; Min Ae Lee-Kirsch
Single-stranded nucleic acids promote SAMHD1 complex formation.
Journal of molecular medicine (Berlin, Germany) 2013;91(6):759-70.
2013: Maroof Hasan; James Koch; Min Ae Lee-Kirsch; Beth Levine; Asit K Pattnaik; Dinesh Rakheja; Edward K Wakeland; James Brugarolas; Igor Dozmorov; Nan Yan
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.
Nature immunology 2013;14(1):61-71.
2012: V Tüngler; H Walkenhorst; C Günther; R M Silver; Min Ae Lee-Kirsch
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
The British journal of dermatology 2012;167(1):212-4.
2011: Georgia Ramantani; Klaus Tenbrock; Britta Wessling; Hedwig Guttmann; Martin Häusler; Michael Mull; Pascal Niggemann; Min Ae Lee-Kirsch
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
Journal of child neurology 2011;26(11):1425-8.
2011: Jacques Rohayem; Giuseppina Salzano; Edith Schober; Bärbel Wiedemann; Walter Burger; Christian Ehlers; Reinhard Holl; Angela Huebner; Olga Kordonouri; Min Ae Lee-Kirsch; Thomas Meissner; Konrad Oexle
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Diabetes care 2011;34(7):1503-10.
2011: Fabian Hauck; Min Ae Lee-Kirsch; Daniela Aust; Joachim Roesler; Frank Pessler
Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.
Arthritis care & research 2011;63(3):454-9.
2010: Nan Yan; Ashton D Regalado-Magdos; Bart Stiggelbout; Min Ae Lee-Kirsch; Judy Lieberman
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
Nature immunology 2010;11(11):1005-13.
2010: Claus E Ott; Gundula Leschik; Fabienne Trotier; Louise Brueton; Han G Brunner; Wim Brussel; Encarna Guillen-Navarro; Claudia Haase; Juergen Kohlhase; Dieter Kotzot; Andrew Lane; Min Ae Lee-Kirsch; Susanne Morlot; Marleen E H Simon; Elisabeth Steichen-Gersdorf; David H Tegay; Hartmut Peters; Stefan Mundlos; Eva Klopocki
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Human mutation 2010;31(8):E1587-93.
2010: Min Ae Lee-Kirsch
Nucleic acid metabolism and systemic autoimmunity revisited.
Arthritis and rheumatism 2010;62(5):1208-12.
2010: Georgia Ramantani; Jürgen Kohlhase; Christoph Hertzberg; A Micheil Innes; Kerstin Engel; Susan Hunger; Wiktor Borozdin; Jean K Mah; Kristina Ungerath; Hartmut Walkenhorst; Hans-Helmut Richardt; Johannes Buckard; Andrea Bevot; Corinna Siegel; Celina von Stülpnagel; Chrysanthy Ikonomidou; Kara Thomas; Virginia Proud; Frank Niemann; Dagmar Wieczorek; Martin Häusler; Pascal Niggemann; Volkan Baltaci; Karsten Conrad; Pierre Lebon; Min Ae Lee-Kirsch
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Arthritis and rheumatism 2010;62(5):1469-77.
2009: Frantisek Liska; Claudia Gosele; Eugene Rivkin; Laura Tres; M Cristina Cardoso; Petra Domaing; Eliska Krejcí; Pavel Snajdr; Min Ae Lee-Kirsch; Dirk G de Rooij; Dirk G de Rooij; Vladimír Kren; Drahomíra Krenová; Abraham L Kierszenbaum; Norbert Hubner
Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.
Biology of reproduction 2009;81(6):1196-205.
2009: Jorge Esparza-Gordillo; Stephan Weidinger; Regina Fölster-Holst; Anja Bauerfeind; Franz Ruschendorf; Giannino Patone; Klaus Rohde; Ingo Marenholz; Florian Schulz; Tamara Kerscher; Norbert Hubner; Ulrich Wahn; Stefan Schreiber; Andre Franke; Rainer Vogler; Simon Heath; Hansjörg Baurecht; Natalija Novak; Elke Rodriguez; Thomas Illig; Min Ae Lee-Kirsch; Andrzej Ciechanowicz; Michael Kurek; Tereza Piskackova; Milan Macek Jr.; Young-Ae Lee; Andreas Ruether
A common variant on chromosome 11q13 is associated with atopic dermatitis.
Nature genetics 2009;41(5):596-601.
2009: Georgia Ramantani; Pascal Niggemann; Gabriele Hahn; Andrea Näke; Raimund Fahsold; Min Ae Lee-Kirsch
Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene.
Journal of child neurology 2009;24(3):333-7.
2008: Konrad Oexle; S Tinschert; K Engel; D Haas; Min Ae Lee-Kirsch
Three-generational alkaptonuria in a non-consanguineous family.
Journal of inherited metabolic disease 2008;31 Suppl 2():S425-30.
2007: Annalisa Ballarini; Min Ae Lee-Kirsch
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes.
Annals of the New York Academy of Sciences 2007;1110():159-65.
2007: Min Ae Lee-Kirsch; Maolian Gong; Dipanjan Chowdhury; Lydia Senenko; Kerstin Engel; Young-Ae Lee; Udesh de Silva; Suzanna L Bailey; Torsten Witte; Timothy J Vyse; Juha Kere; Christiane Pfeiffer; Scott Harvey; Andrew Wong; Sari Koskenmies; Oliver Hummel; Klaus Rohde; Reinhold E Schmidt; Anna F Dominiczak; Manfred Gahr; Thomas Hollis; Fred W Perrino; Judy Lieberman; Norbert Hübner
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Nature genetics 2007;39(9):1065-7.
2007: Catharina Schuetz; Manfred Hoenig; Ansgar Schulz; Min Ae Lee-Kirsch; Joachim Roesler; Wilhelm Friedrich; Horst von Bernuth
Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation.
European journal of pediatrics 2007;166(8):785-8.
2007: Min Ae Lee-Kirsch; Dipanjan Chowdhury; Scott Harvey; Maolian Gong; Lydia Senenko; Kerstin Engel; Christiane Pfeiffer; Thomas Hollis; Manfred Gahr; Fred W Perrino; Judy Lieberman; Norbert Hubner
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
Journal of molecular medicine (Berlin, Germany) 2007;85(5):531-7.
2006: Min Ae Lee-Kirsch; Maolian Gong; Herbert Schulz; Franz Rüschendorf; Annette Stein; Christiane Pfeiffer; Annalisa Ballarini; Manfred Gahr; Norbert Hubner; Maja Linné
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
American journal of human genetics 2006;79(4):731-7.
2005: Dalia Toaima; Andrea Näke; Jutta Wendenburg; Kirsten Praedicow; Jacques Rohayem; Kerstin Engel; Angela Galler; Manfred Gahr; Min Ae Lee-Kirsch
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).
Human mutation 2005;25(5):503-4.
2001: Min Ae Lee-Kirsch; Kerstin Engel; E Paditz; Angela Rösen-Wolff; Young-Ae Lee; Manfred Gahr
Assignment of the human homeobox 11-like 2 gene (HOX11L2) to chromosome 5q34-->q35 by radiation hybrid mapping.
Cytogenetics and cell genetics 2001;92(3-4):358.