Min Ae Lee Kirsch

Summary

Country: Germany

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus
    Min Ae Lee-Kirsch
    Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, 01307 Dresden, Germany
    Nat Genet 39:1065-7. 2007
  3. pmc Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p
    Min Ae Lee-Kirsch
    Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Dresden, Germany
    Am J Hum Genet 79:731-7. 2006
  4. ncbi request reprint A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus
    Min Ae Lee-Kirsch
    Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Fetscherstr 74, 01307, Dresden, Germany
    J Mol Med (Berl) 85:531-7. 2007
  5. doi request reprint Chilblain lupus erythematosus--a review of literature
    C M Hedrich
    Department of Pediatric Rheumatology and Immunology, University Children s Hospital Dresden, Fetscherstr 74, 01307, Dresden, Germany
    Clin Rheumatol 27:949-54. 2008
  6. doi request reprint Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene
    Georgia Ramantani
    Department of Pediatric Neurology, Technical University Dresden, Germany
    J Child Neurol 24:333-7. 2009
  7. doi request reprint Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
    Georgia Ramantani
    Technische Universitat Dresden, Dresden, Germany
    Arthritis Rheum 62:1469-77. 2010
  8. ncbi request reprint Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes
    Annalisa Ballarini
    Klinik fur Kinder und Jugendmedizin, Technische Universitat Dresden, Fetscherstr 74, 01307 Dresden, Germany
    Ann N Y Acad Sci 1110:159-65. 2007

Collaborators

  • FRED PERRINO
  • Juha Kere
  • Anna F Dominiczak
  • Gerhard Schlenvoigt
  • Torsten Witte
  • Jurgen Kohlhase
  • Dagmar Wieczorek
  • Min Ae Lee-Kirsch
  • Georgia Ramantani
  • Kerstin Engel
  • Manfred Gahr
  • Annalisa Ballarini
  • Christiane Pfeiffer
  • Norbert Hubner
  • Pascal Niggemann
  • C M Hedrich
  • Lydia Senenko
  • Scott Harvey
  • Andrea Näke
  • Dipanjan Chowdhury
  • Judy Lieberman
  • Thomas Hollis
  • Maolian Gong
  • Dalia Toaima
  • Andrea Bevot
  • Chrysanthy Ikonomidou
  • Johannes Buckard
  • Hartmut Walkenhorst
  • Kristina Ungerath
  • Christoph Hertzberg
  • Virginia Proud
  • Susan Hunger
  • Wiktor Borozdin
  • Volkan Baltaci
  • Celina von Stülpnagel
  • Corinna Siegel
  • Hans Helmut Richardt
  • Jean K Mah
  • A Micheil Innes
  • Frank Niemann
  • Pierre Lebon
  • Martin Hausler
  • Karsten Conrad
  • Kara Thomas
  • Gabriele Hahn
  • Raimund Fahsold
  • M Gahr
  • F H Hauck
  • B Fiebig
  • G Hahn
  • S Sallmann
  • G Heubner
  • C Pfeiffer
  • Timothy J Vyse
  • Klaus Rohde
  • Andrew Wong
  • Suzanna L Bailey
  • Oliver Hummel
  • Reinhold E Schmidt
  • Young Ae Lee
  • Maoliang Gong
  • Udesh de Silva
  • Sari Koskenmies
  • Maja Linné
  • Annette Stein
  • Franz Ruschendorf
  • Herbert Schulz
  • Kirsten Praedicow
  • Jutta Wendenburg
  • Angela Galler
  • Julia Rohayem

Detail Information

Publications8

  1. ncbi request reprint 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...
  2. ncbi request reprint Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus
    Min 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...
  3. pmc Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p
    Min 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...
  4. ncbi request reprint A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus
    Min 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...
  5. doi request reprint Chilblain lupus erythematosus--a review of literature
    C 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...
  6. doi request reprint Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene
    Georgia 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...
  7. doi request reprint Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
    Georgia Ramantani
    Technische Universitat Dresden, Dresden, Germany
    Arthritis Rheum 62:1469-77. 2010
    ..In this study we further characterized the phenotypic spectrum of this disease...
  8. ncbi request reprint Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes
    Annalisa 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...