Concepedia

NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara, Athma A. Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner

The American Journal of Human Genetics · 2006 · 743 citations · 20 references

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20

Mutations in NOTCH1 cause aortic valve disease

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

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Takaya Oda, Abdel Elkahloun, Brian L. Pike et al. · Nature Genetics · 1997 · 1.2K citations

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Online Mendelian Inheritance in Man 'OMIM'.

Sangeeta Amladi · PubMed · 2007 · 870 citations · Full text

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Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

Ilaria Rebay, R.J. Fleming, Richard G. Fehon et al. · Cell · 1991 · 774 citations

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