Publications

Selected publications

Master regulatory role of p63 in epidermal development and disease.  Soares E, Zhou H. Cell Mol Life Sci. 2018;75 (7):1179-1190. PMID: 29103147

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. Khandelwal KD, Ockeloen CW, Venselaar H, Boulanger C, Brichard B, Sokal E, Pfundt R, Rinne T, van Beusekom E, Bloemen M, Vriend G, Revencu N, Carels CEL, van Bokhoven H, Zhou H. Am J Med Genet A. 2017 May 17. PMID: 28513979

Evolutionary re-wiring of p63 and the epigenomic regulatory landscape in keratinocytes and its potential implications on species-specific gene expression and phenotypes. Sethi I, Gluck C, Zhou H, Buck MJ, Sinha S. Nucleic Acids Res. 2017 45(14):8208-8224.  PMID: 28505376

Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation. Kouwenhoven EN, Oti M, Niehues H, van Heeringen SJ, Schalkwijk J, Stunnenberg HG, van Bokhoven H, Zhou H. EMBO Rep. 2015 16(7):863-78.  PMID: 26034101

All publications

  1. Iacono, G, Dubos, A, Méziane, H, Benevento, M, Habibi, E, Mandoli, A et al.. Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. Nucleic Acids Res. 2018; :. doi: 10.1093/nar/gky196. PubMed PMID:29554304 .
  2. Arcidiacono, P, Webb, CM, Brooke, MA, Zhou, H, Delaney, PJ, Ng, KE et al.. p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. Nat Commun. 2018;9 (1):1021. doi: 10.1038/s41467-018-03470-y. PubMed PMID:29523849 PubMed Central PMC5844915.
  3. Compagnone, M, Gatti, V, Presutti, D, Ruberti, G, Fierro, C, Markert, EK et al.. ΔNp63-mediated regulation of hyaluronic acid metabolism and signaling supports HNSCC tumorigenesis. Proc. Natl. Acad. Sci. U.S.A. 2017;114 (50):13254-13259. doi: 10.1073/pnas.1711777114. PubMed PMID:29162693 PubMed Central PMC5740608.
  4. Soares, E, Zhou, H. Master regulatory role of p63 in epidermal development and disease. Cell. Mol. Life Sci. 2018;75 (7):1179-1190. doi: 10.1007/s00018-017-2701-z. PubMed PMID:29103147 PubMed Central PMC5843667.
  5. Koemans, TS, Kleefstra, T, Chubak, MC, Stone, MH, Reijnders, MRF, de Munnik, S et al.. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet. 2017;13 (10):e1006864. doi: 10.1371/journal.pgen.1006864. PubMed PMID:29069077 PubMed Central PMC5656305.
  6. Richardson, R, Mitchell, K, Hammond, NL, Mollo, MR, Kouwenhoven, EN, Wyatt, ND et al.. p63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate. PLoS Genet. 2017;13 (6):e1006828. doi: 10.1371/journal.pgen.1006828. PubMed PMID:28604778 PubMed Central PMC5484519.
  7. Khandelwal, KD, Ockeloen, CW, Venselaar, H, Boulanger, C, Brichard, B, Sokal, E et al.. Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. Am. J. Med. Genet. A. 2017; :. doi: 10.1002/ajmg.a.38274. PubMed PMID:28513979 .
  8. Sethi, I, Gluck, C, Zhou, H, Buck, MJ, Sinha, S. Evolutionary re-wiring of p63 and the epigenomic regulatory landscape in keratinocytes and its potential implications on species-specific gene expression and phenotypes. Nucleic Acids Res. 2017;45 (14):8208-8224. doi: 10.1093/nar/gkx416. PubMed PMID:28505376 PubMed Central PMC5737389.
  9. Ngcungcu, T, Oti, M, Sitek, JC, Haukanes, BI, Linghu, B, Bruccoleri, R et al.. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. Am. J. Hum. Genet. 2017;100 (5):737-750. doi: 10.1016/j.ajhg.2017.03.012. PubMed PMID:28457472 PubMed Central PMC5420352.
  10. Kroeze, Y, Oti, M, van Beusekom, E, Cooijmans, RHM, van Bokhoven, H, Kolk, SM et al.. Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Cortex Development. Cereb. Cortex. 2018;28 (3):833-851. doi: 10.1093/cercor/bhw407. PubMed PMID:28108491 .
  11. Khandelwal, KD, Ishorst, N, Zhou, H, Ludwig, KU, Venselaar, H, Gilissen, C et al.. Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. J. Dent. Res. 2017;96 (2):179-185. doi: 10.1177/0022034516678829. PubMed PMID:27834299 .
  12. Ockeloen, CW, Khandelwal, KD, Dreesen, K, Ludwig, KU, Sullivan, R, van Rooij, IALM et al.. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet. Med. 2016;18 (11):1158-1162. doi: 10.1038/gim.2016.10. PubMed PMID:26963285 PubMed Central PMC5018235.
  13. Phan, M, Conte, F, Khandelwal, KD, Ockeloen, CW, Bartzela, T, Kleefstra, T et al.. Tooth agenesis and orofacial clefting: genetic brothers in arms?. Hum. Genet. 2016;135 (12):1299-1327. doi: 10.1007/s00439-016-1733-z. PubMed PMID:27699475 PubMed Central PMC5065589.
  14. Benevento, M, Iacono, G, Selten, M, Ba, W, Oudakker, A, Frega, M et al.. Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. Neuron. 2016;91 (2):341-55. doi: 10.1016/j.neuron.2016.06.003. PubMed PMID:27373831 .
  15. Mammadova, A, Zhou, H, Carels, CE, Von den Hoff, JW. Retinoic acid signalling in the development of the epidermis, the limbs and the secondary palate. Differentiation. 2016;92 (5):326-335. doi: 10.1016/j.diff.2016.05.001. PubMed PMID:27238416 .
  16. Kroeze, Y, Dirven, B, Janssen, S, Kröhnke, M, Barte, RM, Middelman, A et al.. Perinatal reduction of functional serotonin transporters results in developmental delay. Neuropharmacology. 2016;109 :96-111. doi: 10.1016/j.neuropharm.2016.05.012. PubMed PMID:27208789 .
  17. Kroeze, Y, Peeters, D, Boulle, F, van den Hove, DL, van Bokhoven, H, Zhou, H et al.. Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus. Transl Psychiatry. 2016;6 :e779. doi: 10.1038/tp.2016.60. PubMed PMID:27070407 PubMed Central PMC4872416.
  18. Oti, M, Falck, J, Huynen, MA, Zhou, H. CTCF-mediated chromatin loops enclose inducible gene regulatory domains. BMC Genomics. 2016;17 :252. doi: 10.1186/s12864-016-2516-6. PubMed PMID:27004515 PubMed Central PMC4804521.
  19. Conte, F, Oti, M, Dixon, J, Carels, CE, Rubini, M, Zhou, H et al.. Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. Hum. Genet. 2016;135 (1):41-59. doi: 10.1007/s00439-015-1606-x. PubMed PMID:26561393 PubMed Central PMC4698300.
  20. Oti, M, Kouwenhoven, EN, Zhou, H. Genome-wide p63-regulated gene expression in differentiating epidermal keratinocytes. Genom Data. 2015;5 :159-63. doi: 10.1016/j.gdata.2015.06.002. PubMed PMID:26484246 PubMed Central PMC4584025.
  21. Brouwer, M, Zhou, H, Nadif Kasri, N. Choices for Induction of Pluripotency: Recent Developments in Human Induced Pluripotent Stem Cell Reprogramming Strategies. Stem Cell Rev. 2016;12 (1):54-72. doi: 10.1007/s12015-015-9622-8. PubMed PMID:26424535 PubMed Central PMC4720703.
  22. Kroeze, Y, Peeters, D, Boulle, F, Pawluski, JL, van den Hove, DL, van Bokhoven, H et al.. Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus. Transl Psychiatry. 2015;5 :e642. doi: 10.1038/tp.2015.145. PubMed PMID:26393488 PubMed Central PMC5068807.
  23. Viticchiè, G, Agostini, M, Lena, AM, Mancini, M, Zhou, H, Zolla, L et al.. p63 supports aerobic respiration through hexokinase II. Proc. Natl. Acad. Sci. U.S.A. 2015;112 (37):11577-82. doi: 10.1073/pnas.1508871112. PubMed PMID:26324887 PubMed Central PMC4577137.
  24. Giacobbe, A, Compagnone, M, Bongiorno-Borbone, L, Antonov, A, Markert, EK, Zhou, JH et al.. p63 controls cell migration and invasion by transcriptional regulation of MTSS1. Oncogene. 2016;35 (12):1602-8. doi: 10.1038/onc.2015.230. PubMed PMID:26119942 .
  25. Kouwenhoven, EN, Oti, M, Niehues, H, van Heeringen, SJ, Schalkwijk, J, Stunnenberg, HG et al.. Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation. EMBO Rep. 2015;16 (7):863-78. doi: 10.15252/embr.201439941. PubMed PMID:26034101 PubMed Central PMC4515125.
  26. Kouwenhoven, EN, van Bokhoven, H, Zhou, H. Gene regulatory mechanisms orchestrated by p63 in epithelial development and related disorders. Biochim. Biophys. Acta. 2015;1849 (6):590-600. doi: 10.1016/j.bbagrm.2015.03.003. PubMed PMID:25797018 .
  27. Memmi, EM, Sanarico, AG, Giacobbe, A, Peschiaroli, A, Frezza, V, Cicalese, A et al.. p63 Sustains self-renewal of mammary cancer stem cells through regulation of Sonic Hedgehog signaling. Proc. Natl. Acad. Sci. U.S.A. 2015;112 (11):3499-504. doi: 10.1073/pnas.1500762112. PubMed PMID:25739959 PubMed Central PMC4372004.
  28. Goldsmith, T, Eytan, O, Magal, L, Solomon, M, Israeli, S, Warshauer, E et al.. A mutation in TP63 causing a mild ectodermal dysplasia phenotype. J. Invest. Dermatol. 2014;134 (8):2277-2280. doi: 10.1038/jid.2014.159. PubMed PMID:24675753 .
  29. Mammadova, A, Ackermans, MM, Bloemen, M, Oostendorp, C, Zhou, H, Carels, CE et al.. Effects of retinoic acid on proliferation and gene expression of cleft and non-cleft palatal keratinocytes. Eur J Orthod. 2014;36 (6):727-34. doi: 10.1093/ejo/cjt104. PubMed PMID:24509616 .
  30. Fakhouri, WD, Rahimov, F, Attanasio, C, Kouwenhoven, EN, Ferreira De Lima, RL, Felix, TM et al.. An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. Hum. Mol. Genet. 2014;23 (10):2711-20. doi: 10.1093/hmg/ddt664. PubMed PMID:24442519 PubMed Central PMC3990169.
  31. Balemans, MC, Ansar, M, Oudakker, AR, van Caam, AP, Bakker, B, Vitters, EL et al.. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice. Dev. Biol. 2014;386 (2):395-407. doi: 10.1016/j.ydbio.2013.12.016. PubMed PMID:24362066 .
  32. Wolchinsky, Z, Shivtiel, S, Kouwenhoven, EN, Putin, D, Sprecher, E, Zhou, H et al.. Angiomodulin is required for cardiogenesis of embryonic stem cells and is maintained by a feedback loop network of p63 and Activin-A. Stem Cell Res. 2014;12 (1):49-59. doi: 10.1016/j.scr.2013.09.015. PubMed PMID:24145187 .
  33. Khandelwal, KD, van Bokhoven, H, Roscioli, T, Carels, CE, Zhou, H. Genomic approaches for studying craniofacial disorders. Am J Med Genet C Semin Med Genet. 2013;163C (4):218-31. doi: 10.1002/ajmg.c.31379. PubMed PMID:24142857 .
  34. Gregor, A, Oti, M, Kouwenhoven, EN, Hoyer, J, Sticht, H, Ekici, AB et al.. De novo mutations in the genome organizer CTCF cause intellectual disability. Am. J. Hum. Genet. 2013;93 (1):124-31. doi: 10.1016/j.ajhg.2013.05.007. PubMed PMID:23746550 PubMed Central PMC3710752.
  35. Shalom-Feuerstein, R, Serror, L, Aberdam, E, Müller, FJ, van Bokhoven, H, Wiman, KG et al.. Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET. Proc. Natl. Acad. Sci. U.S.A. 2013;110 (6):2152-6. doi: 10.1073/pnas.1201753109. PubMed PMID:23355677 PubMed Central PMC3568301.
  36. Shen, J, van den Bogaard, EH, Kouwenhoven, EN, Bykov, VJ, Rinne, T, Zhang, Q et al.. APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. Proc. Natl. Acad. Sci. U.S.A. 2013;110 (6):2157-62. doi: 10.1073/pnas.1201993110. PubMed PMID:23355676 PubMed Central PMC3568378.
  37. Zhou, H, Aberdam, D. A step closer toward therapies for p63-related disorders. Rare Dis. 2013;1 :e24247. doi: 10.4161/rdis.24247. PubMed PMID:25002990 PubMed Central PMC3932939.
  38. Ferone, G, Mollo, MR, Thomason, HA, Antonini, D, Zhou, H, Ambrosio, R et al.. p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum. Mol. Genet. 2013;22 (3):531-43. doi: 10.1093/hmg/dds464. PubMed PMID:23108156 PubMed Central PMC3542863.
  39. Kroeze, Y, Zhou, H, Homberg, JR. The genetics of selective serotonin reuptake inhibitors. Pharmacol. Ther. 2012;136 (3):375-400. doi: 10.1016/j.pharmthera.2012.08.015. PubMed PMID:22944042 .
  40. Kleefstra, T, Kramer, JM, Neveling, K, Willemsen, MH, Koemans, TS, Vissers, LE et al.. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am. J. Hum. Genet. 2012;91 (1):73-82. doi: 10.1016/j.ajhg.2012.05.003. PubMed PMID:22726846 PubMed Central PMC3397275.
  41. Roscioli, T, Kamsteeg, EJ, Buysse, K, Maystadt, I, van Reeuwijk, J, van den Elzen, C et al.. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat. Genet. 2012;44 (5):581-5. doi: 10.1038/ng.2253. PubMed PMID:22522421 PubMed Central PMC3378661.
  42. Ferone, G, Thomason, HA, Antonini, D, De Rosa, L, Hu, B, Gemei, M et al.. Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome. EMBO Mol Med. 2012;4 (3):192-205. doi: 10.1002/emmm.201100199. PubMed PMID:22247000 PubMed Central PMC3376849.
  43. Rivetti di Val Cervo, P, Lena, AM, Nicoloso, M, Rossi, S, Mancini, M, Zhou, H et al.. p63-microRNA feedback in keratinocyte senescence. Proc. Natl. Acad. Sci. U.S.A. 2012;109 (4):1133-8. doi: 10.1073/pnas.1112257109. PubMed PMID:22228303 PubMed Central PMC3268329.
  44. Ackermans, MM, Zhou, H, Carels, CE, Wagener, FA, Von den Hoff, JW. Vitamin A and clefting: putative biological mechanisms. Nutr. Rev. 2011;69 (10):613-24. doi: 10.1111/j.1753-4887.2011.00425.x. PubMed PMID:21967161 .
  45. Rouleau, M, Medawar, A, Hamon, L, Shivtiel, S, Wolchinsky, Z, Zhou, H et al.. TAp63 is important for cardiac differentiation of embryonic stem cells and heart development. Stem Cells. 2011;29 (11):1672-83. doi: 10.1002/stem.723. PubMed PMID:21898690 .
  46. Browne, G, Cipollone, R, Lena, AM, Serra, V, Zhou, H, van Bokhoven, H et al.. Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias. J. Cell. Sci. 2011;124 (Pt 13):2200-7. doi: 10.1242/jcs.079327. PubMed PMID:21652629 .
  47. Kramer, JM, Kochinke, K, Oortveld, MA, Marks, H, Kramer, D, de Jong, EK et al.. Epigenetic regulation of learning and memory by Drosophila EHMT/G9a. PLoS Biol. 2011;9 (1):e1000569. doi: 10.1371/journal.pbio.1000569. PubMed PMID:21245904 PubMed Central PMC3014924.
  48. Shalom-Feuerstein, R, Lena, AM, Zhou, H, De La Forest Divonne, S, Van Bokhoven, H, Candi, E et al.. ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis. Cell Death Differ. 2011;18 (5):887-96. doi: 10.1038/cdd.2010.159. PubMed PMID:21127502 PubMed Central PMC3131930.
  49. Kouwenhoven, EN, van Heeringen, SJ, Tena, JJ, Oti, M, Dutilh, BE, Alonso, ME et al.. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet. 2010;6 (8):e1001065. doi: 10.1371/journal.pgen.1001065. PubMed PMID:20808887 PubMed Central PMC2924305.
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  51. Thomason, HA, Zhou, H, Kouwenhoven, EN, Dotto, GP, Restivo, G, Nguyen, BC et al.. Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J. Clin. Invest. 2010;120 (5):1561-9. doi: 10.1172/JCI40266. PubMed PMID:20424327 PubMed Central PMC2860913.
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