Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS.
|
24736733 |
2015 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS.
|
24736733 |
2015 |
Shprintzen-Goldberg syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS.
|
24736733 |
2015 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS.
|
24736733 |
2015 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS.
|
24736733 |
2015 |
Shprintzen-Goldberg syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.
|
24357594 |
2014 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.
|
24357594 |
2014 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.
|
24357594 |
2014 |
Shprintzen-Goldberg syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
CTD_human |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
CLINGEN |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.
|
23023332 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.
|
23103230 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
CLINGEN |
The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.
|
23103230 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.
|
23103230 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.
|
23103230 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS.
|
23103230 |
2012 |
Shprintzen-Goldberg syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling.
|
12857746 |
2003 |
Shprintzen-Goldberg syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling.
|
12419246 |
2002 |