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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. Iqbal Z, et al. Among authors: millan jl. Am J Hum Genet. 2010 Feb 12;86(2):254-61. doi: 10.1016/j.ajhg.2010.01.009. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137777 Free PMC article.
A protein corona modulates the function of mineralization-competent matrix vesicles.
Cominal JG, Gobbi Sebinelli H, Hayann L, Nogueira LFB, Cruz MAE, Mello MT, da Silva Andrilli LH, Bolean M, Ramos AP, Mebarek S, Bottini M, Millán JL, Ciancaglini P. Cominal JG, et al. Among authors: millan jl. JBMR Plus. 2024 Dec 24;9(2):ziae168. doi: 10.1093/jbmrpl/ziae168. eCollection 2025 Feb. JBMR Plus. 2024. PMID: 39877729 Free PMC article.
Preclinical evaluation of the efficacy and safety of adeno-associated virus 8-tissue-nonspecific alkaline phosphatase-D10 in Alpl-/- and AlplPrx1/Prx1 mouse models for the treatment of early and late-onset hypophosphatasia.
de Oliveira FA, Tokuhara CK, Mohamed FF, Narisawa S, Lira Dos Santos EJ, Andras NL, Shadid M, Miyake K, Foster BL, Millán JL. de Oliveira FA, et al. Among authors: millan jl. J Bone Miner Res. 2025 Apr 21;40(4):463-477. doi: 10.1093/jbmr/zjaf005. J Bone Miner Res. 2025. PMID: 39799564
307 results