Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes
Skowronek, Dariush, Pilz, Robin A, Bonde, Loisa, Schamuhn, Ole J, Feldmann, Janne L, Hoffjan, Sabine, Much, Christiane D, Felbor, Ute, Rath, Matthias
Published in International journal of molecular sciences (09.12.2022)
Published in International journal of molecular sciences (09.12.2022)
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Journal Article
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations
Much, Christiane D, Schwefel, Konrad, Skowronek, Dariush, Shoubash, Loay, von Podewils, Felix, Elbracht, Miriam, Spiegler, Stefanie, Kurth, Ingo, Flöel, Agnes, Schroeder, Henry W S, Felbor, Ute, Rath, Matthias
Published in Frontiers in neurology (20.11.2019)
Published in Frontiers in neurology (20.11.2019)
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Journal Article
Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells
Much, Christiane D., Sendtner, Barbara S., Schwefel, Konrad, Freund, Eric, Bekeschus, Sander, Otto, Oliver, Pagenstecher, Axel, Felbor, Ute, Rath, Matthias, Spiegler, Stefanie
Published in Frontiers in molecular biosciences (09.07.2021)
Published in Frontiers in molecular biosciences (09.07.2021)
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Journal Article
Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro
Spiegler, Stefanie, Rath, Matthias, Much, Christiane D., Sendtner, Barbara S., Felbor, Ute
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Journal Article
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening
Schwefel, Konrad, Spiegler, Stefanie, Ameling, Sabine, Much, Christiane D., Pilz, Robin A., Otto, Oliver, Völker, Uwe, Felbor, Ute, Rath, Matthias
Published in Journal of cellular and molecular medicine (01.03.2019)
Published in Journal of cellular and molecular medicine (01.03.2019)
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Journal Article
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3
Schwefel, Konrad, Spiegler, Stefanie, Kirchmaier, Bettina C., Dellweg, Patricia K. E., Much, Christiane D., Pané‐Farré, Jan, Strom, Tim M., Riedel, Katharina, Felbor, Ute, Rath, Matthias
Published in The FASEB journal (01.07.2020)
Published in The FASEB journal (01.07.2020)
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Journal Article
Bringing CCM into a dish: cell culture models for cerebral cavernous malformations
Skowronek, Dariush, Pilz, Robin A., Schwefel, Konrad, Much, Christiane D., Felbor, Ute, Rath, Matthias
Published in Medizinische Genetik (01.09.2021)
Published in Medizinische Genetik (01.09.2021)
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