ArticleMammalian genome : official journal of the International Mammalian Genome Society2009
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 52 citations in OpenAlex.
- Differential expression of TKS4 isoforms and their role in cellular processes in breast cancer.Journal of cell communication and signaling · 2026Article
- Circular RNA-Mediated ceRNA networks predict sperm retrieval outcomes in non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2026Article
- Genome-wide association study of mature cow size traits in American Angus cattle.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- The Sh3Pxd2bnee-/- mouse reveals developmental features of Frank-ter Haar syndrome.Development (Cambridge, England) · 2026Article
- Disentangling mature cow weight and body condition score: a comparative single-step GWAS of phenotypic pre-adjustment vs. recursive modeling.Journal of animal science · 2026Article
- Genome-wide association studies and genetic architecture of carcass traits in Angus beef cattle using imputed whole-genome sequences data.Genetics, selection, evolution : GSE · 2025Article
- Anesthesia and Airway Management in a Child with Frank Ter Haar Syndrome Suspected Difficult Airway Undergoing Cardiac Surgery: A Case Report.Anesthesiology and pain medicine · 2024Article
- Morphological Changes Induced by TKS4 Deficiency Can Be Reversed by EZH2 Inhibition in Colorectal Carcinoma Cells.Biomolecules · 2024Article
- Intercellular transfer of cancer cell invasiveness via endosome-mediated protease shedding.Nature communications · 2024Article
- Digital spatial profiling of segmental outflow regions in trabecular meshwork reveals a role for ADAM15.PloS one · 2024Article
- Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells.International journal of molecular sciences · 2023Article
- Article
- Preclinical Study of Human Bone Marrow-Derived Mesenchymal Stem Cells Using a 3-Dimensional Manufacturing Setting for Enhancing Spinal Fusion.Stem cells translational medicine · 2022Article
- A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System.International journal of molecular sciences · 2022Article
- Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms.Investigative ophthalmology & visual science · 2022Review
- The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.Genes · 2022Article
- Quantification and image-derived phenotyping of retinal ganglion cell nuclei in the nee mouse model of congenital glaucoma.Experimental eye research · 2021Article
- The novel zebrafish modelBiology open · 2020Article
- Advances in Understanding TKS4 and TKS5: Molecular Scaffolds Regulating Cellular Processes from Podosome and Invadopodium Formation to Differentiation and Tissue Homeostasis.International journal of molecular sciences · 2020Review
- Enhanced endothelial motility and multicellular sprouting is mediated by the scaffold protein TKS4.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Podosome-type adhesions are actin-based membrane protrusions involved in cell-matrix adhesion and extracellular matrix degradation. Despite growing knowledge of many proteins associated with podosome-type adhesions, much remains unknown concerning the function of podosomal proteins at the level of the whole animal. In this study, the spontaneous mouse mutant nee was used to identify a component of podosome-type adhesions that is essential for normal postnatal growth and development. Mice homozygous for the nee allele exhibited runted growth, craniofacial and skeletal abnormalities, ocular anterior segment dysgenesis, and hearing impairment. Adults also exhibited infertility and a form of lipodystrophy. Using genetic mapping and DNA sequencing, the cause of nee phenotypes was identified as a 1-bp deletion within the Sh3pxd2b gene on mouse Chromosome 11. Whereas the wild-type Sh3pxd2b gene is predicted to encode a protein with one PX domain and four SH3 domains, the nee mutation is predicted to cause a frameshift and a protein truncation altering a portion of the third SH3 domain and deleting all of the fourth SH3 domain. The SH3PXD2B protein is believed to be an important component of podosomes likely to mediate protein-protein interactions with membrane-spanning metalloproteinases. Testing this directly, SH3PXD2B localized to podosomes in constitutively active Src-transfected fibroblasts and through its last SH3 domain associated with a transmembrane member of a disintegrin and metalloproteinase family of proteins, ADAM15. These results identify SH3PXD2B as a podosomal-adaptor protein required for postnatal growth and development, particularly within physiologic contexts involving extracellular matrix regulation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.