Spiegler S - Search Results

1

Mechanical characterization of isolated mitochondria under conditions of oxidative stress.

Komaragiri Y, Panhwar MH, Fregin B, Jagirdar G, Wolke C, Spiegler S, Otto O. Komaragiri Y, et al. Among authors: spiegler s. Biomicrofluidics. 2022 Nov 17;16(6):064101. doi: 10.1063/5.0111581. eCollection 2022 Dec. Biomicrofluidics. 2022. PMID: 36406339 Free PMC article.

2

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. Among authors: spiegler s. 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.

3

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: spiegler s. Methods Mol Biol. 2020;2152:169-177. doi: 10.1007/978-1-0716-0640-7_13. Methods Mol Biol. 2020. PMID: 32524552

4

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: spiegler s. FASEB J. 2020 Jul;34(7):9018-9033. doi: 10.1096/fj.201902888R. Epub 2020 Jun 9. FASEB J. 2020. PMID: 32515053

5

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. Among authors: spiegler s. Sci Rep. 2020 Apr 14;10(1):6306. doi: 10.1038/s41598-020-63337-5. Sci Rep. 2020. PMID: 32286434 Free PMC article.

6

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: spiegler s. Front Neurol. 2019 Nov 20;10:1219. doi: 10.3389/fneur.2019.01219. eCollection 2019. Front Neurol. 2019. PMID: 31824402 Free PMC article.

7

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. 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.

8

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U. Rath M, et al. Among authors: spiegler s. Am J Med Genet A. 2019 Feb;179(2):295-299. doi: 10.1002/ajmg.a.60700. Epub 2018 Dec 17. Am J Med Genet A. 2019. PMID: 30556293 Free PMC article.

9

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: spiegler s. 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.

10

Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Spiegler S, Rath M, Paperlein C, Felbor U. Spiegler S, et al. Mol Syndromol. 2018 Feb;9(2):60-69. doi: 10.1159/000486292. Epub 2018 Jan 25. Mol Syndromol. 2018. PMID: 29593473 Free PMC article. Review.

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