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We report a sibling pair with Frank-ter (显示 TECR 蛋白) Haar syndrome (FTHS) caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene.
Suggest the importance of Tks (显示 PTK6 蛋白) adaptor proteins in melanoma growth and metastasis in vivo is likely via functional invadopodia formation.
Misfolded Frank-ter (显示 TECR 蛋白) Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes.
a new function for Tks4 in the regulation of growth factor-dependent cell migration.
SH3PXD2B is a scaffold protein (显示 HOMER1 蛋白) that plays a key role in regulating the actin cytoskeleton via Src (显示 SRC 蛋白) and cortactin (显示 CTTN 蛋白).
Tks4 and Tks5 directly bind to NoxA1 (显示 NOXA1 蛋白). The integrity of the N-terminal PRR (显示 PVRL1 蛋白) of NoxA1 (显示 NOXA1 蛋白) is essential for this direct interaction with the Tks (显示 PTK6 蛋白) proteins.
The Nox1 (显示 NOX1 蛋白)-dependent generation of reactive oxygen species is dependent on Src (显示 SRC 蛋白) phosphorylation of NoxA1 (显示 NOXA1 蛋白) and Tks4. Blockage of phosphorylation of NoxA1 (显示 NOXA1 蛋白) and Tks4 decreases Nox1 (显示 NOX1 蛋白)-dependent ROS (显示 ROS1 蛋白) generation and blocks SrcYF-induced invadopodia formation.
These findings establish a role for TKS4 in Frank-Ter (显示 TECR 蛋白) Haar syndrome and embryonic development.
together, these results establish a novel function for Tks4 in the regulation of mesenchymal stromal cells differentiation.
eyes of B10-Sh3pxd2bnee mice exhibit multiple features of congenital glaucoma.
The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans.
SH3PXD2B is a podosomal-adaptor protein required for postnatal growth and development.
Induction of the fad49 gene was observed in adipocyte differentiable 3T3-L1 cells, but not in non-adipogenic NIH-3T3 cells.
Tks4 has a role in the formation and function of podosomes.
Silencing of C/EBPdelta (显示 CEBPD 蛋白) impaired the expression of factor for adipocyte differentiation (fad) 49, which is up-regulated and plays a crucial role early in adipogenesis.
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome.
SH3 and PX domain-containing protein 2B
, adapter protein HOFI
, adaptor protein HOFI
, factor for adipocyte differentiation 49
, tyrosine kinase substrate with four SH3 domains