Concepedia

Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve

Salah A. Mohamed, Zouhair Aherrahrou, Henrike Liptau, Armin W. Erasmi, Carolin Hagemann, Sandra Wróbel, Katja Borzym, Heribert Schunkert, Hans H. Sievers, Jeanette Erdmann

Biochemical and Biophysical Research Communications · 2006 · 224 citations · 12 references

DOI

Concepts

References

12

Mutations in NOTCH1 cause aortic valve disease

Vidu Garg, Alecia N. Muth, J. Ransom et al. · Nature · 2005 · 1.5K citations

, , +12

Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation

Luika Timmerman, Joaquím Grego‐Bessa, Ángel Raya et al. · Genes & Development · 2003 · 982 citations · Full text

, , +17

The congenitally bicuspid aortic valve

William C. Roberts · The American Journal of Cardiology · 1970 · 920 citations

, , +12

Bicuspid aortic valve is heritable

Linda Cripe, Grégor Andelfinger, Lisa J. Martin et al. · Journal of the American College of Cardiology · 2004 · 627 citations

, , +12

Osteopontin Is Expressed in Human Aortic Valvular Lesions

Kevin D. O’Brien, Johanna Kuusisto, Dennis D. Reichenbach et al. · Circulation · 1995 · 434 citations

, , +14