Mutations in NOTCH1 cause aortic valve disease

By V. Garg, Alecia N. Muth, J. Ransom, Marie K. Schluterman, Robert Barnes, I. King, P. Grossfeld, Deepak Srivastava. Nature, 2005

1,530 citations recorded by the source corpus.

Subfields: Cancer Research, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/2426fee58b09e318725180077d19579169441f4e

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. B. Bruneau
2. S. Teitelbaum
3. Deepak Srivastava
4. M. Ilagan
5. J. P. Thiery
6. H. Kronenberg
7. Michael T. McManus
8. Alecia N. Muth

In Molecular Biology

1. Fanxin Long
2. S. Teitelbaum
3. B. Bruneau
4. Jormay Lim
5. F. Ross
6. D. Ornitz
7. Alecia N. Muth
8. H. Kronenberg

Citations in the corpus

• The developmental genetics of congenital heart disease (2008, background): “, and it is the causative gene in some cases of BA”
• Epithelial-mesenchymal transitions: insights from development (2012, background): “Mutations of NOTCH1 or its ligand JAG1 in humans cause heart valve defects (Li et al., 1997; Garg et al., 2005).”
• When NRF2 Talks, Who's Listening? (2010, neutral): “Additionally, HES1=HERP2 physically interacts with RUNX2 in osteoblasts (37).”
• Bicuspid aortic valve disease. (2010, background): “3) result in abnormal aortic valve development (BAV) nd later to de-repression of calcium deposition (43,44).”
• Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. (2007, background): “, 1999), which itself causes heart disease (Garg et al., 2005), and Hand1, a bHLH transcription factor involved in ventricular development and septation (McFadden et al.”
• PI5P4Kγ functions in DTX1-mediated Notch signaling (2018, background): “For example, Notch loss-offunction mutations give rise to aortic valve disease and keratinocyte hyperplasia (7, 8).”
• Making or breaking the heart: from lineage determination to morphogenesis. (2006, background): “The recent discovery that NOTCH1 mutations in humans cause bicuspid aortic valves and later calcification indicates that early developmental and later degenerative disease can share a common genetic cause (Garg et al., 2005).”
• Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation (2008, result): “Whereas a previous study identified Hey1 and Hey2 as potential mediators in aortic valve”