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Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature.
Int J Mol Sci. 2023 Feb 16;24(4):3993. doi: 10.3390/ijms24043993.
Int J Mol Sci. 2023.
PMID: 36835400
Free PMC article.
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.
Skowronek D, Pilz RA, Bonde L, Schamuhn OJ, Feldmann JL, Hoffjan S, Much CD, Felbor U, Rath M.
Skowronek D, et al.
Int J Mol Sci. 2022 Dec 9;23(24):15639. doi: 10.3390/ijms232415639.
Int J Mol Sci. 2022.
PMID: 36555281
Free PMC article.
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Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion.
Pilz RA, Skowronek D, Hamed M, Weise A, Mangold E, Radbruch A, Pietsch T, Felbor U, Rath M.
Pilz RA, et al. Among authors: skowronek d.
Front Mol Biosci. 2022 Aug 25;9:953048. doi: 10.3389/fmolb.2022.953048. eCollection 2022.
Front Mol Biosci. 2022.
PMID: 36090026
Free PMC article.
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Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells.
Rath M, Schwefel K, Malinverno M, Skowronek D, Leopoldi A, Pilz RA, Biedenweg D, Bekeschus S, Penninger JM, Dejana E, Felbor U.
Rath M, et al. Among authors: skowronek d.
Cell Mol Life Sci. 2022 Jun 4;79(6):340. doi: 10.1007/s00018-022-04355-6.
Cell Mol Life Sci. 2022.
PMID: 35661927
Free PMC article.
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Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.
Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M.
Skowronek D, et al.
Eur J Dermatol. 2020 Apr 1;30(2):179-181. doi: 10.1684/ejd.2020.3716.
Eur J Dermatol. 2020.
PMID: 32538359
No abstract available.
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Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
Much CD, Schwefel K, Skowronek D, Shoubash L, von Podewils F, Elbracht M, Spiegler S, Kurth I, Flöel A, Schroeder HWS, Felbor U, Rath M.
Much CD, et al. Among authors: skowronek d.
Front Neurol. 2019 Nov 20;10:1219. doi: 10.3389/fneur.2019.01219. eCollection 2019.
Front Neurol. 2019.
PMID: 31824402
Free PMC article.
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