Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

HHT is a vascular dysplasia syndrome caused by mutations in TGF-β/BMP pathway genes, ENG and ACVRL1. HHT shows considerable variation in clinical manifestations, suggesting environmental and/or genetic modifier effects. Strain-specific penetrance of the vascular phenotypes of Eng+/− and Tgfb1−/− mic...

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Autori principali: Benzinou, Michael, Clermont, Frederic F., Letteboer, Tom G. W., Kim, Jai-hyun, Espejel, Silvia, Harradine, Kelly A., Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E., van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C. W., Westermann, Cornelius J. J., Akhurst, Rosemary J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509798/
https://ncbi.nlm.nih.gov/pubmed/22233626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms1633
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