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Jagged-mediated development and disease: Mechanistic insights and therapeutic implications for Alagille syndrome
J. Mašek, ER. Andersson
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, přehledy
- MeSH
- Alagillův syndrom * diagnóza genetika terapie MeSH
- lidé MeSH
- membránové proteiny genetika metabolismus MeSH
- mezibuněčné signální peptidy a proteiny genetika MeSH
- protein jagged-1 genetika MeSH
- proteiny vázající vápník genetika MeSH
- serrate-jagged proteiny MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Notch signaling controls multiple aspects of embryonic development and adult homeostasis. Alagille syndrome is usually caused by a single mutation in the jagged canonical Notch ligand 1 (JAG1), and manifests with liver disease and cardiovascular symptoms that are a direct consequence of JAG1 haploinsufficiency. Recent insights into Jag1/Notch-controlled developmental and homeostatic processes explain how pathology develops in the hepatic and cardiovascular systems and, together with recent elucidation of mechanisms modulating liver regeneration, provide a basis for therapeutic efforts. Importantly, disease presentation can be regulated by genetic modifiers, that may also be therapeutically leverageable. Here, we summarize recent insights into how Jag1 controls processes of relevance to Alagille syndrome, focused on Jag1/Notch functions in hepatic and cardiovascular development and homeostasis.
Citace poskytuje Crossref.org
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- $a Notch signaling controls multiple aspects of embryonic development and adult homeostasis. Alagille syndrome is usually caused by a single mutation in the jagged canonical Notch ligand 1 (JAG1), and manifests with liver disease and cardiovascular symptoms that are a direct consequence of JAG1 haploinsufficiency. Recent insights into Jag1/Notch-controlled developmental and homeostatic processes explain how pathology develops in the hepatic and cardiovascular systems and, together with recent elucidation of mechanisms modulating liver regeneration, provide a basis for therapeutic efforts. Importantly, disease presentation can be regulated by genetic modifiers, that may also be therapeutically leverageable. Here, we summarize recent insights into how Jag1 controls processes of relevance to Alagille syndrome, focused on Jag1/Notch functions in hepatic and cardiovascular development and homeostasis.
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- $a Andersson, Emma R $u Dept of Cell and Molecular Biology, Karolinska Institutet, Sweden. Electronic address: emma.andersson@ki.se
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