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We report a sibling pair with Frank-ter Haar syndrome (FTHS) caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene.
Suggest the importance of Tks adaptor proteins in melanoma growth and metastasis in vivo is likely via functional invadopodia formation.
Misfolded Frank-ter 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 that plays a key role in regulating the actin cytoskeleton via Src and cortactin.
Tks4 and Tks5 directly bind to NoxA1. The integrity of the N-terminal PRR of NoxA1 is essential for this direct interaction with the Tks proteins.
The Nox1-dependent generation of reactive oxygen species is dependent on Src phosphorylation of NoxA1 and Tks4. Blockage of phosphorylation of NoxA1 and Tks4 decreases Nox1-dependent ROS generation and blocks SrcYF-induced invadopodia formation.
These findings establish a role for TKS4 in Frank-Ter 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 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