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A mutation in TP63 causing a mild ectodermal dysplasia phenotype.
Goldsmith T, Eytan O, Magal L, Solomon M, Israeli S, Warshauer E, Grafi-Cohen M, Aberdam D, van Bokhoven H, Zhou H, Sarig O, Sprecher E, Nousbeck J. Goldsmith T, et al. Among authors: van bokhoven h. J Invest Dermatol. 2014 Aug;134(8):2277-2280. doi: 10.1038/jid.2014.159. Epub 2014 Mar 27. J Invest Dermatol. 2014. PMID: 24675753 Free article. No abstract available.
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H. Rinne T, et al. Among authors: van bokhoven h. Hum Mol Genet. 2008 Jul 1;17(13):1968-77. doi: 10.1093/hmg/ddn094. Epub 2008 Mar 25. Hum Mol Genet. 2008. PMID: 18364388
ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis.
Shalom-Feuerstein R, Lena AM, Zhou H, De La Forest Divonne S, Van Bokhoven H, Candi E, Melino G, Aberdam D. Shalom-Feuerstein R, et al. Among authors: van bokhoven h. Cell Death Differ. 2011 May;18(5):887-96. doi: 10.1038/cdd.2010.159. Epub 2010 Dec 3. Cell Death Differ. 2011. PMID: 21127502 Free PMC article.
p63, a story of mice and men.
Vanbokhoven H, Melino G, Candi E, Declercq W. Vanbokhoven H, et al. J Invest Dermatol. 2011 Jun;131(6):1196-207. doi: 10.1038/jid.2011.84. Epub 2011 Apr 7. J Invest Dermatol. 2011. PMID: 21471985 Free article. Review.
Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.
Shalom-Feuerstein R, Serror L, Aberdam E, Müller FJ, van Bokhoven H, Wiman KG, Zhou H, Aberdam D, Petit I. Shalom-Feuerstein R, et al. Among authors: van bokhoven h. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2152-6. doi: 10.1073/pnas.1201753109. Epub 2013 Jan 25. Proc Natl Acad Sci U S A. 2013. PMID: 23355677 Free PMC article.
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC. Fakhouri WD, et al. Among authors: van bokhoven h. Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16. Hum Mol Genet. 2014. PMID: 24442519 Free PMC article.
337 results