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- W3111429537 abstract "Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling. We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors. Scube3−/− mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder. Our findings identify a human disease caused by defective function of a member of the SCUBE family, and link SCUBE3 to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling." @default.
- W3111429537 created "2020-12-21" @default.
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- W3111429537 date "2021-01-01" @default.
- W3111429537 modified "2023-10-16" @default.
- W3111429537 title "SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling" @default.
- W3111429537 cites W1508831423 @default.
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- W3111429537 cites W1969608698 @default.
- W3111429537 cites W1984119915 @default.
- W3111429537 cites W1986276800 @default.
- W3111429537 cites W1989622963 @default.
- W3111429537 cites W1994303245 @default.
- W3111429537 cites W2003020933 @default.
- W3111429537 cites W2013521943 @default.
- W3111429537 cites W2022170395 @default.
- W3111429537 cites W2026905611 @default.
- W3111429537 cites W2036841261 @default.
- W3111429537 cites W2042774795 @default.
- W3111429537 cites W2051927904 @default.
- W3111429537 cites W2062930347 @default.
- W3111429537 cites W2064297038 @default.
- W3111429537 cites W2076087769 @default.
- W3111429537 cites W2079331123 @default.
- W3111429537 cites W2079690512 @default.
- W3111429537 cites W2080374649 @default.
- W3111429537 cites W2081964427 @default.
- W3111429537 cites W2086023112 @default.
- W3111429537 cites W2113071839 @default.
- W3111429537 cites W2117947328 @default.
- W3111429537 cites W2120369953 @default.
- W3111429537 cites W2132210313 @default.
- W3111429537 cites W2132345567 @default.
- W3111429537 cites W2137559175 @default.
- W3111429537 cites W2140403673 @default.
- W3111429537 cites W2145491187 @default.
- W3111429537 cites W2151964857 @default.
- W3111429537 cites W2156182988 @default.
- W3111429537 cites W2156999280 @default.
- W3111429537 cites W2163092145 @default.
- W3111429537 cites W2164060627 @default.
- W3111429537 cites W2165213969 @default.
- W3111429537 cites W2283490245 @default.
- W3111429537 cites W2343938601 @default.
- W3111429537 cites W2522950450 @default.
- W3111429537 cites W2556830543 @default.
- W3111429537 cites W2771238835 @default.
- W3111429537 cites W2802699586 @default.
- W3111429537 cites W2887317632 @default.
- W3111429537 cites W2921224072 @default.