Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Robin A. Pilz"'
Autor:
Robin A. Pilz, Dariush Skowronek, Motaz Hamed, Anja Weise, Elisabeth Mangold, Alexander Radbruch, Torsten Pietsch, Ute Felbor, Matthias Rath
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe neurological complications. Pathogenic loss-of-function variants in the CCM1, CCM2, or CCM3 gene are associated with the autosomal dominant form of the disease.
Externí odkaz:
https://doaj.org/article/d6dc71592f62442ab581a55813dbcf9d
Autor:
Tim Lange, Sophia-Marie Bach, Thor-Magnus Koppe, Anja Klann, Anja Weise, Robin Alexander Pilz, Norina Loth, Sabrina von Rheinbaben, Sylvia Stracke, Nicole Endlich
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103224- (2023)
Chronic kidney disease is a major public health burden associated with a drastically reduced quality of living and life span that lacks suitable, individualized therapeutic strategies. Here we present a human induced pluripotent stem cell line (iPSC,
Externí odkaz:
https://doaj.org/article/ecbae239b3dd4b079254313a2926d7d6
Autor:
Robin A. Pilz, Dariush Skowronek, Lara Mellinger, Sander Bekeschus, Ute Felbor, Matthias Rath
Cerebral cavernous malformation (CCM) is a neurovascular disease that can lead to seizures and stroke-like symptoms. The familial form is caused by a heterozygous germline mutation in either the CCM1, CCM2, or CCM3 gene. While the importance of a sec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815fbc20b6791509fb06bc828fc27e0f
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f812504120d307c6ca507513710c914
https://doi.org/10.1515/medgen-2021-2091
https://doi.org/10.1515/medgen-2021-2091
Autor:
Matthias Rath, Konrad Schwefel, Matteo Malinverno, Dariush Skowronek, Alexandra Leopoldi, Robin A. Pilz, Doreen Biedenweg, Sander Bekeschus, Josef M. Penninger, Elisabetta Dejana, Ute Felbor
Cerebral cavernous malformations (CCM) are low-flow vascular lesions prone to cause severe hemorrhage-associated neurological complications. Pathogenic germline variants in CCM1, CCM2, or CCM3 can be identified in nearly 100% of CCM patients with a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2e064c949ef46b13d12e9be577f5dae
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-477777
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-477777
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; Volume 23; Issue 24; Pages: 15639
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e97ad7620a254360d0f899bf427a30
https://doi.org/10.3390/ijms232415639
https://doi.org/10.3390/ijms232415639
Autor:
Ute Felbor, Eberhard Gilberg, Matthias Rath, Christian A. Hübner, Anja Weise, Konrad Schwefel, Andreas Spuler, Thomas Liehr, Robin A. Pilz, Stefanie Spiegler, Philipp Demmer
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Autosomal dominant cerebral cavernous malformations (CCM) are leaky vascular lesions that can cause epileptic seizures and stroke-like symptoms. Germline mutations in either CCM1, CCM2 or CCM3 are found in the majority of patients with multiple CCMs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad47057495b07896d638ed11fb7501d
https://pubmed.ncbi.nlm.nih.gov/32286434
https://pubmed.ncbi.nlm.nih.gov/32286434
Autor:
Matthias Rath, Konrad Schwefel, Ute Felbor, Stefanie Spiegler, Christiane D. Much, Uwe Völker, Oliver Otto, Sabine Ameling, Robin A. Pilz
Publikováno v:
Journal of Cellular and Molecular Medicine
CCM3, originally described as PDCD10, regulates blood‐brain barrier integrity and vascular maturation in vivo. CCM3 loss‐of‐function variants predispose to cerebral cavernous malformations (CCM). Using CRISPR/Cas9 genome editing, we here presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb21832b3853548eafae062d0abbe3cb
https://pubmed.ncbi.nlm.nih.gov/30549232
https://pubmed.ncbi.nlm.nih.gov/30549232