Table I.

Human diseases caused by mutations in the components of the Notch pathway

Disease	Mutated Notch pathway component
T-cell acute lymphoblastic leukemiaa	Notch1
Alagille syndromeb	Jagged1, Notch2
Tetralogy of Fallotc	Jagged1
Aortic valve diseasesd	Notch1
CADASIL syndromee	Notch3
Spondylocostal dysostosisf	Delta-like3, Lunatic Fringe, Mesp2g, Hes7
Diffuse large B-cell lymphomah	Notch2
Hearing lossi	Jagged1

^aEllisen et al. (1991); Weng et al. (2004)

^bLi et al. (1997); Oda et al. (1997); McDaniell et al. (2006); Warthen et al. (2006)

^cEldadah et al. (2001); Greenway et al. (2009)

^dGarg et al. (2005); Mohamed et al. (2006); McKellar et al. (2007); McBride et al. (2008)

^eJoutel et al. (1996)

^fBulman et al. (2000); Whittock et al. (2004); Sparrow et al. (2006); Sparrow et al. (2008)

^gMesp2 is a transcription factor which regulates Notch signaling in the context of somitogenesis (Takahashi et al. 2003)

^hLee et al. (2009)

ⁱLe Caignec et al. (2002)