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Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes.
Int J Mol Sci. 2022 Dec 9;23(24):15639. doi: 10.3390/ijms232415639.
Int J Mol Sci. 2022.
PMID: 36555281
Free PMC article.
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening.
Schwefel K, Spiegler S, Ameling S, Much CD, Pilz RA, Otto O, Völker U, Felbor U, Rath M.
Schwefel K, et al. Among authors: pilz ra.
J Cell Mol Med. 2019 Mar;23(3):1771-1783. doi: 10.1111/jcmm.14075. Epub 2018 Dec 13.
J Cell Mol Med. 2019.
PMID: 30549232
Free PMC article.
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Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations.
Pilz RA, Korenke GC, Steeb R, Strom TM, Felbor U, Rath M.
Pilz RA, et al.
J Neurol Sci. 2019 Jun 15;401:34-36. doi: 10.1016/j.jns.2019.04.007. Epub 2019 Apr 8.
J Neurol Sci. 2019.
PMID: 31005762
No abstract available.
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First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.
Pilz RA, Schwefel K, Weise A, Liehr T, Demmer P, Spuler A, Spiegler S, Gilberg E, Hübner CA, Felbor U, Rath M.
Pilz RA, et al.
Sci Rep. 2020 Apr 14;10(1):6306. doi: 10.1038/s41598-020-63337-5.
Sci Rep. 2020.
PMID: 32286434
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: pilz ra.
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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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.
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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Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature.
Pilz RA, Skowronek D, Mellinger L, Bekeschus S, Felbor U, Rath M.
Pilz RA, et al.
Int J Mol Sci. 2023 Feb 16;24(4):3993. doi: 10.3390/ijms24043993.
Int J Mol Sci. 2023.
PMID: 36835400
Free PMC article.
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