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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: much cd.
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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CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease.
Schwefel K, Spiegler S, Much CD, Felbor U, Rath M.
Schwefel K, et al. Among authors: much cd.
Methods Mol Biol. 2020;2152:169-177. doi: 10.1007/978-1-0716-0640-7_13.
Methods Mol Biol. 2020.
PMID: 32524552
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Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.
Spiegler S, Rath M, Much CD, Sendtner BS, Felbor U.
Spiegler S, et al. Among authors: much cd.
Mol Genet Genomic Med. 2019 Jul;7(7):e00755. doi: 10.1002/mgg3.755. Epub 2019 May 23.
Mol Genet Genomic Med. 2019.
PMID: 31124307
Free PMC article.
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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.
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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Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.
Schwefel K, Spiegler S, Kirchmaier BC, Dellweg PKE, Much CD, Pané-Farré J, Strom TM, Riedel K, Felbor U, Rath M.
Schwefel K, et al. Among authors: much cd.
FASEB J. 2020 Jul;34(7):9018-9033. doi: 10.1096/fj.201902888R. Epub 2020 Jun 9.
FASEB J. 2020.
PMID: 32515053
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Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells.
Much CD, Sendtner BS, Schwefel K, Freund E, Bekeschus S, Otto O, Pagenstecher A, Felbor U, Rath M, Spiegler S.
Much CD, et al.
Front Mol Biosci. 2021 Jul 9;8:622547. doi: 10.3389/fmolb.2021.622547. eCollection 2021.
Front Mol Biosci. 2021.
PMID: 34307446
Free PMC article.
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