Condition: Shprintzen-Goldberg syndrome
rs1553189986 in
SKI gene and
Shprintzen-Goldberg syndrome
PMID 12419246 2002 Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling.
PMID 12857746 2003 Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling.
PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
PMID 24357594 2014 De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.