Concepedia

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Dorien Schepers, Alexander Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J. Willems, Sahar Mansour, Michael A. Simpson, Helena Frysira, Anneke Maat‐Kievit,

European Journal of Human Genetics · 2014 · 61 citations · 19 references

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19

Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Jennifer Habashi, Daniel P. Judge, Tammy M. Holm et al. · Science · 2006 · 1.8K citations · Full text

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Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome

Enid Neptune, Pamela A. Frischmeyer, Dan E. Arking et al. · Nature Genetics · 2003 · 1.4K citations

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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 674 citations

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TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

Connie M. Ng, Alan Cheng, Loretha Myers et al. · Journal of Clinical Investigation · 2004 · 519 citations · Full text

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TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

Connie M. Ng, Alan Cheng, Loretha Myers et al. · Journal of Clinical Investigation · 2004 · 479 citations · Full text

, , +16