Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

LEOPARD syndrome (LS) is an autosomal dominant “RASopathy” that manifests with congenital heart disease. Nearly all cases of LS are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11) gene that encodes the SH2 domain-containing PTP-...

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Bibliografiska uppgifter
Huvudupphovsmän: Marin, Talita M., Keith, Kimberly, Davies, Benjamin, Conner, David A., Guha, Prajna, Kalaitzidis, Demetrios, Wu, Xue, Lauriol, Jessica, Wang, Bo, Bauer, Michael, Bronson, Roderick, Franchini, Kleber G., Neel, Benjamin G., Kontaridis, Maria I.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2011
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049377/
https://ncbi.nlm.nih.gov/pubmed/21339643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI44972
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