| 1 | FTHS, SH3PXD2B
|
| The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages.
|
| Dülk M, Kudlik G, Fekete A, Ernszt D, Kvell K, Pongrácz JE, Merő BL, Szeder B, Radnai L, Geiszt M, Csécsy DE, Kovács T, Uher F, Lányi Á, Vas V, Buday L.
|
| Sci Rep 6:34280. doi: 10.1038/srep34280.
2016
|
| 2 | FTHS, SH3PXD2B
|
| Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.
|
| Ádám C, Fekete A, Bőgel G, Németh Z, Tőkési N, Ovádi J, Liliom K, Pesti S, Geiszt M, Buday L.
|
| Cell Commun Signal 13:33. doi: 10.1186/s12964-015-0108-8.
2015
|
| 3 | FTHS, SH3PXD2B
|
| Expression, purification and preliminary crystallographic studies of the C-terminal SH3 domain of human Tks4.
|
| Huang Y, Qian H, Wang X, Cheng Z, Ren J, Zhao W, Xie Y.
|
| Acta Crystallogr F Struct Biol Commun 70(Pt 3):343-6. doi: 10.1107/S2053230X14001952.
2014
|
| 4 | FTHS, SH3PXD2B
|
| Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
|
| Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ.
|
| Eur J Hum Genet 22(6):741-7. doi: 10.1038/ejhg.2013.229.
2014
|
| 5 | FTHS, SH3PXD2B
|
| Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
|
| Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H.
|
| Am J Hum Genet 86(2):254-61. Epub 2010 Feb 4.PMID: 20137777 2010
|