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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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2011
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Research Article
Acceso en liña: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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