Mosaic Overgrowth with Fibroadipose Hyperplasia is Caused by Somatic Activating Mutations in PIK3CA

The phosphatidylinositol-3-kinase (PI3K)/AKT signaling pathway is critical for cellular growth and metabolism. Correspondingly, loss of function of PTEN, a negative regulator of PI3K, or activating mutations in AKT1, AKT2, or AKT3 have been found in distinct disorders featuring overgrowth or hypogly...

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Hlavní autoři: Lindhurst, Marjorie J, Parker, Victoria ER, Payne, Felicity, Sapp, Julie C, Rudge, Simon, Harris, Julie, Witkowski, Alison M, Zhang, Qifeng, Groeneveld, Matthijs P, Scott, Carol E, Daly, Allan, Huson, Susan M, Tosi, Laura L, Cunningham, Michael L, Darling, Thomas N, Geer, Joseph, Gucev, Zoran, Sutton, V. Reid, Tziotzios, Christos, Dixon, Adrian K, Helliwell, Timothy, O’Rahilly, Stephen, Savage, David B, Wakelam, Michael JO, Barroso, Inês, Biesecker, Leslie G, Semple, Robert K
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3461408/
https://ncbi.nlm.nih.gov/pubmed/22729222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2332
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