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SMOC1 encodes a multi-domain secreted protein that may have a critical role in ocular and limb development.
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Missense mutation in exon 3 of SMOC1 segregated with the Waardenburg anophthalmia syndrome in the Iranian family.
This is the first report of Waardenburg anophthalmia syndrome (WAS) caused by a SMOC1 variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SMOC-1 in causing WAS.
SMOC binds to Pro-EGF (zeige EGF Proteine), but does not induce Erk (zeige EPHB2 Proteine) phosphorylation via the EGFR (zeige EGFR Proteine).
IL-17A (zeige IL17A Proteine) but not IL-22 (zeige IL22 Proteine) suppresses the replication of hepatitis B virus by inducing the expression of MxA (zeige MX1 Proteine) and OAS.
SMOC1 provides a link between prenatal hormone exposure and digit ratio.
Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families with Waardenburg Anophthalmia syndrome.
The present study thus identified SPARC related modular calcium binding 1 as a new cancer-associated protein capable of interacting with tenascin-C (zeige TNC Proteine) in vitro
these findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice.
Waardenburg anophthalmia syndrome is genetically heterogeneous; a second was locus found on chromosome 14, and mutations in SMOC1 were shown also cause this syndrome.
Analyzed the secretory protein profiles of BMSCs grown in osteogenic medium (OSM (zeige OSM Proteine)) and identified SPARC-related modular calcium-binding protein 1 (SMOC1), a member of the SPARC (zeige SPARC Proteine) family, as a regulator of osteoblast differentiation of BMSCs.
SMOC1 is an activin-like kinase antagonist produced by endothelial cells that tips TGF-beta (zeige TGFB1 Proteine) signalling towards ALK1 (zeige ACVRL1 Proteine) activation
The heparin-binding activity of secreted modular calcium-binding protein 1 (SMOC-1) modulates its cell adhesion properties.
SMOC1 and SMOC2 (zeige SMOC2 Proteine) may mediate intercellular signaling and cell type-specific differentiation during gonad and reproductive tract development
expression of SMOC-1 examined in the early embryo day 7, as well as in following embryonic stages on days 12, 14, 16 & 18; broad and organ-specific distribution suggests multifunctional roles of SMOC-1 during mouse embryogenesis
This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
SPARC-related modular calcium binding protein 1
, SPARC-related modular calcium-binding protein 1
, SPARC related modular calcium binding 1
, secreted modular calcium-binding protein 1
, secreted modular calcium-binding 1
, SPARC-related gene protein
, SPARC-related protein
, secreted modular calcium binding protein 1