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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Théard C, Touraine P, Robevska G, van van den Bergen J, Ayers KL, Sinclair AH, Dötsch V, Jaillard S. Tucker EJ, et al. Among authors: dotsch v. Hum Mutat. 2022 Oct;43(10):1443-1453. doi: 10.1002/humu.24432. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35801529 Free PMC article.
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H. Khandelwal KD, et al. Among authors: dotsch v. Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8. Eur J Hum Genet. 2019. PMID: 30850703 Free PMC article. Clinical Trial.
p63 uses a switch-like mechanism to set the threshold for induction of apoptosis.
Gebel J, Tuppi M, Chaikuad A, Hötte K, Schröder M, Schulz L, Löhr F, Gutfreund N, Finke F, Henrich E, Mezhyrova J, Lehnert R, Pampaloni F, Hummer G, Stelzer EHK, Knapp S, Dötsch V. Gebel J, et al. Among authors: dotsch v. Nat Chem Biol. 2020 Oct;16(10):1078-1086. doi: 10.1038/s41589-020-0600-3. Epub 2020 Jul 27. Nat Chem Biol. 2020. PMID: 32719556
p63 and p73, the ancestors of p53.
Dötsch V, Bernassola F, Coutandin D, Candi E, Melino G. Dötsch V, et al. Cold Spring Harb Perspect Biol. 2010 Sep;2(9):a004887. doi: 10.1101/cshperspect.a004887. Epub 2010 May 19. Cold Spring Harb Perspect Biol. 2010. PMID: 20484388 Free PMC article. Review.
Tracing the protectors path from the germ line to the genome.
Coutandin D, Ou HD, Löhr F, Dötsch V. Coutandin D, et al. Among authors: dotsch v. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15318-25. doi: 10.1073/pnas.1001069107. Epub 2010 Aug 9. Proc Natl Acad Sci U S A. 2010. PMID: 20696896 Free PMC article.
265 results