Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Christiane D. Much"'
Autor:
Dariush Skowronek, Robin A. Pilz, Loisa Bonde, Ole J. Schamuhn, Janne L. Feldmann, Sabine Hoffjan, Christiane D. Much, Ute Felbor, Matthias Rath
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15639 (2022)
Deletions in the CCM1, CCM2, and CCM3 genes are a common cause of familial cerebral cavernous malformations (CCMs). In current molecular genetic laboratories, targeted next-generation sequencing or multiplex ligation-dependent probe amplification are
Externí odkaz:
https://doaj.org/article/25b2008149f745cca6329272592adb4c
Autor:
Christiane D. Much, Barbara S. Sendtner, Konrad Schwefel, Eric Freund, Sander Bekeschus, Oliver Otto, Axel Pagenstecher, Ute Felbor, Matthias Rath, Stefanie Spiegler
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits. Our unders
Externí odkaz:
https://doaj.org/article/6235fddf84474db1b2750edac3925c4f
Autor:
Christiane D. Much, Konrad Schwefel, Dariush Skowronek, Loay Shoubash, Felix von Podewils, Miriam Elbracht, Stefanie Spiegler, Ingo Kurth, Agnes Flöel, Henry W. S. Schroeder, Ute Felbor, Matthias Rath
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathog
Externí odkaz:
https://doaj.org/article/aa2a460795ba46208c7cdfca7b23fa83
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background The CRISPR/Cas9 system has opened new perspectives to study the molecular basis of cerebral cavernous malformations (CCMs) in personalized disease models. However, precise genome editing in endothelial and other hard‐to‐transf
Externí odkaz:
https://doaj.org/article/e4129c3e1bc240e19044df029e923c5f
Autor:
Dariush Skowronek, Robin A. Pilz, Konrad Schwefel, Christiane D. Much, Ute Felbor, Matthias Rath
Publikováno v:
Medizinische Genetik. 33:251-259
Cerebral cavernous malformations (CCMs) are vascular lesions that can cause severe neurological complications due to intracranial hemorrhage. Although the CCM disease genes, CCM1, CCM2, and CCM3, have been known for more than 15 years now, our unders
Autor:
Oliver Otto, Matthias Rath, Stefanie Spiegler, Ute Felbor, Axel Pagenstecher, Sander Bekeschus, Konrad Schwefel, Christiane D. Much, Eric Freund, Barbara S. Sendtner
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
Frontiers in Molecular Biosciences
Frontiers in Molecular Biosciences
Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits. Our unders
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2152
The CRISPR/Cas9 system is a versatile tool that enables targeted genome editing in various cell types, including hard-to-transfect endothelial cells. The required crRNA, tracrRNA, and Cas9 protein have mostly been introduced into endothelial cells by
Publikováno v:
Methods in Molecular Biology ISBN: 9781071606391
The CRISPR/Cas9 system is a versatile tool that enables targeted genome editing in various cell types, including hard-to-transfect endothelial cells. The required crRNA, tracrRNA, and Cas9 protein have mostly been introduced into endothelial cells by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b12dbae61bcf5a5e34e7d198c4ccfe7f
https://doi.org/10.1007/978-1-0716-0640-7_13
https://doi.org/10.1007/978-1-0716-0640-7_13
Autor:
Konrad Schwefel, Patricia K. E. Dellweg, Ute Felbor, Katharina Riedel, Tim M. Strom, Bettina C. Kirchmaier, Stefanie Spiegler, Matthias Rath, Christiane D. Much, Jan Pané-Farré
Publikováno v:
FASEB J. 34, 9018-9033 (2020)
Loss-of-function variants in CCM1/KRIT1, CCM2, and CCM3/PDCD10 are associated with autosomal dominant cerebral cavernous malformations (CCMs). CRISPR/Cas9-mediated CCM3 inactivation in human endothelial cells (ECs) has been shown to induce profound d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::260ed06141023269c44717ca920ed300
https://mediatum.ub.tum.de/doc/1578676/document.pdf
https://mediatum.ub.tum.de/doc/1578676/document.pdf
Autor:
Ute Felbor, Matthias Rath, Christiane D. Much, Dariush Skowronek, Stefanie Spiegler, Henry W. S. Schroeder, Loay Shoubash, Konrad Schwefel, Felix von Podewils, Agnes Flöel, Miriam Elbracht, Ingo Kurth
Publikováno v:
Frontiers in neurology 10, 1219 (2019). doi:10.3389/fneur.2019.01219
Frontiers in Neurology, Vol 10 (2019)
Frontiers in Neurology, Vol 10 (2019)
Frontiers in neurology 10, 1219 (2019). doi:10.3389/fneur.2019.01219
Published by Frontiers Research Foundation, Lausanne
Published by Frontiers Research Foundation, Lausanne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe3ea9cba6d86e75233c25d9e6e7fc7