Engel K - Search Results

1

Three-generational alkaptonuria in a non-consanguineous family.

Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA. Oexle K, et al. Among authors: engel k. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S425-30. doi: 10.1007/s10545-008-0994-7. Epub 2008 Dec 22. J Inherit Metab Dis. 2008. PMID: 19096913

2

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. Among authors: engel k. 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

3

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

Toaima D, Näke A, Wendenburg J, Praedicow K, Rohayem J, Engel K, Galler A, Gahr M, Lee-Kirsch MA. Toaima D, et al. Among authors: engel k. Hum Mutat. 2005 May;25(5):503-4. doi: 10.1002/humu.9334. Hum Mutat. 2005. PMID: 15841481

4

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Ramantani G, et al. Among authors: engel k. Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367. Arthritis Rheum. 2010. PMID: 20131292 Free article.

5

Assignment of the human homeobox 11-like 2 gene (HOX11L2) to chromosome 5q34-->q35 by radiation hybrid mapping.

Lee-Kirsch MA, Engel K, Paditz E, Rösen-Wolff A, Lee YA, Gahr M. Lee-Kirsch MA, et al. Among authors: engel k. Cytogenet Cell Genet. 2001;92(3-4):358. doi: 10.1159/000056933. Cytogenet Cell Genet. 2001. PMID: 11435718 No abstract available.

6

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation.

Zimmermann N, Wolf C, Schwenke R, Lüth A, Schmidt F, Engel K, Lee-Kirsch MA, Günther C. Zimmermann N, et al. Among authors: engel k. JAMA Dermatol. 2019 Mar 1;155(3):342-346. doi: 10.1001/jamadermatol.2018.5077. JAMA Dermatol. 2019. PMID: 30673078 Free PMC article.

7

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. Among authors: engel k. Nat Genet. 2007 Sep;39(9):1065-7. doi: 10.1038/ng2091. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660818

8

Familial chilblain lupus due to a gain-of-function mutation in STING.

König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA. König N, et al. Among authors: engel k. Ann Rheum Dis. 2017 Feb;76(2):468-472. doi: 10.1136/annrheumdis-2016-209841. Epub 2016 Aug 26. Ann Rheum Dis. 2017. PMID: 27566796

9

Single Cell Gel Electrophoresis for the Detection of Genomic Ribonucleotides.

Kind B, Wolf C, Engel K, Rapp A, Cristina Cardoso M, Lee-Kirsch MA. Kind B, et al. Among authors: engel k. Methods Mol Biol. 2018;1672:311-318. doi: 10.1007/978-1-4939-7306-4_21. Methods Mol Biol. 2018. PMID: 29043632

10

Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations.

Hänchen V, Kretschmer S, Wolf C, Engel K, Khattak S, Neumann K, Lee-Kirsch MA. Hänchen V, et al. Among authors: engel k. Stem Cell Res. 2022 Oct;64:102895. doi: 10.1016/j.scr.2022.102895. Epub 2022 Aug 19. Stem Cell Res. 2022. PMID: 36027857 Free article.

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