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Mapping endothelial...
Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution
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- Orsenigo, Fabrizio (author)
- FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.
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- Conze, Lei Liu (author)
- Uppsala universitet,Vaskulärbiologi
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- Jauhiainen, Suvi (author)
- Uppsala universitet,Vaskulärbiologi
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- Corada, Monica (author)
- FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.
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- Lazzaroni, Francesca (author)
- FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.
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- Malinverno, Matteo (author)
- FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.
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- Sundell, Veronica (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Cunha, Sara Isabel (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Brännstrom, Johan (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Globisch, Maria A. (author)
- Uppsala universitet,Vaskulärbiologi
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- Maderna, Claudio (author)
- FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.
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- Lampugnani, Maria Grazia (author)
- FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.;Mario Negri Inst Pharmacol Res, Milan, Italy.
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- Magnusson, Peetra (author)
- Uppsala universitet,Vaskulärbiologi
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- Dejana, Elisabetta (author)
- Uppsala universitet,Vaskulärbiologi,FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy.
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FIRC Inst Mol Oncol Fdn IFOM, Vasc Biol Unit, Milan, Italy Vaskulärbiologi (creator_code:org_t)
- eLife Sciences Publications, Ltd, 2020
- 2020
- English.
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In: eLIFE. - : eLife Sciences Publications, Ltd. - 2050-084X. ; 9
- Related links:
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https://doi.org/10.7...
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https://uu.diva-port... (primary) (Raw object)
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Abstract
Subject headings
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- Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage. Loss-of-function mutations to any of three genes results in CCM lesion formation; namely, KRIT1, CCM2, and PDCD10 (CCM3). Here, we report for the first time in-depth single-cell RNA sequencing, combined with spatial transcriptomics and immunohistochemistry, to comprehensively characterize subclasses of brain endothelial cells (ECs) under both normal conditions and after deletion of Pdcd10 (Ccm3) in a mouse model of CCM. Integrated single-cell analysis identifies arterial ECs as refractory to CCM transformation. Conversely, a subset of angiogenic venous capillary ECs and respective resident endothelial progenitors appear to be at the origin of CCM lesions. These data are relevant for the understanding of the plasticity of the brain vascular system and provide novel insights into the molecular basis of CCM disease at the single cell level.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Orsenigo, Fabriz ...
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Conze, Lei Liu
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Jauhiainen, Suvi
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Corada, Monica
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Lazzaroni, Franc ...
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Malinverno, Matt ...
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Sundell, Veronic ...
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Cunha, Sara Isab ...
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Brännstrom, Joha ...
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Globisch, Maria ...
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Maderna, Claudio
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Lampugnani, Mari ...
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Magnusson, Peetr ...
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Dejana, Elisabet ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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eLIFE
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Uppsala University