Lee-Kirsch MA - Search Results

1

The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.

Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B. Staus P, et al. J Clin Immunol. 2023 Aug;43(6):1289-1301. doi: 10.1007/s10875-023-01472-0. Epub 2023 Apr 21. J Clin Immunol. 2023. PMID: 37084016 Free PMC article.

2

Altered structure, regulation, and function of the gene encoding the atrial natriuretic peptide in the stroke-prone spontaneously hypertensive rat.

Rubattu S, Lee-Kirsch MA, DePaolis P, Giliberti R, Gigante B, Lombardi A, Volpe M, Lindpaintner K. Rubattu S, et al. Circ Res. 1999 Nov 12;85(10):900-5. doi: 10.1161/01.res.85.10.900. Circ Res. 1999. PMID: 10559136

3

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N. Lee-Kirsch MA, et al. J Mol Med (Berl). 2007 May;85(5):531-7. doi: 10.1007/s00109-007-0199-9. Epub 2007 Apr 18. J Mol Med (Berl). 2007. PMID: 17440703

4

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hübner N. Lee-Kirsch MA, et al. Nat Genet. 2007 Sep;39(9):1065-7. doi: 10.1038/ng2091. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660818

5

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

Hasan M, Koch J, Rakheja D, Pattnaik AK, Brugarolas J, Dozmorov I, Levine B, Wakeland EK, Lee-Kirsch MA, Yan N. Hasan M, et al. Nat Immunol. 2013 Jan;14(1):61-71. doi: 10.1038/ni.2475. Epub 2012 Nov 18. Nat Immunol. 2013. PMID: 23160154 Free PMC article.

6

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA. Tüngler V, et al. Br J Dermatol. 2012 Jul;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x. Br J Dermatol. 2012. PMID: 22356656 No abstract available.

7

Reconciling neuroimaging and clinical findings in Aicardi-Goutières syndrome: an autoimmune-mediated encephalopathy.

Ramantani G, Niggemann P, Bast T, Lee-Kirsch MA. Ramantani G, et al. AJNR Am J Neuroradiol. 2010 Aug;31(7):E62-3; author reply E64. doi: 10.3174/ajnr.A2147. Epub 2010 Jun 25. AJNR Am J Neuroradiol. 2010. PMID: 20581073 Free PMC article. No abstract available.

8

Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene.

Ramantani G, Niggemann P, Hahn G, Näke A, Fahsold R, Lee-Kirsch MA. Ramantani G, et al. J Child Neurol. 2009 Mar;24(3):333-7. doi: 10.1177/0883073808323021. J Child Neurol. 2009. PMID: 19258292

9

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Sell K, et al. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26. Brain Dev. 2016. PMID: 26923722

10

[How Often is Rare Really Rare? A Survey on the Frequency of Rare Diseases at a University Hospital].

Kretschmer T, Danker A, Müller O, Rösen-Wolff A, Lee-Kirsch MA, Berner R. Kretschmer T, et al. Gesundheitswesen. 2022 Jun;84(6):526-531. doi: 10.1055/a-1388-7095. Epub 2021 Apr 15. Gesundheitswesen. 2022. PMID: 33860487 German.

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