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Results: 1 to 20 of 32

1.

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.

J Invest Dermatol. 2014 Aug;134(8):2277-80. doi: 10.1038/jid.2014.159. Epub 2014 Mar 27. No abstract available.

PMID:
24675753
[PubMed - in process]
2.

Effects of retinoic acid on proliferation and gene expression of cleft and non-cleft palatal keratinocytes.

Mammadova A, Ackermans MM, Bloemen M, Oostendorp C, Zhou H, Carels CE, Von den Hoff JW.

Eur J Orthod. 2014 Feb 12. [Epub ahead of print]

PMID:
24509616
[PubMed - as supplied by publisher]
3.

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.

Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16.

PMID:
24442519
[PubMed - in process]
4.

Constant pH molecular dynamics of proteins in explicit solvent with proton tautomerism.

Goh GB, Hulbert BS, Zhou H, Brooks CL 3rd.

Proteins. 2014 Jul;82(7):1319-31. doi: 10.1002/prot.24499. Epub 2014 Jan 15.

PMID:
24375620
[PubMed - in process]
5.

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, Kleefstra T, Zhou H, Van der Zee CE, van Bokhoven H.

Dev Biol. 2014 Feb 15;386(2):395-407. doi: 10.1016/j.ydbio.2013.12.016. Epub 2013 Dec 19.

PMID:
24362066
[PubMed - indexed for MEDLINE]
6.

Angiomodulin is required for cardiogenesis of embryonic stem cells and is maintained by a feedback loop network of p63 and Activin-A.

Wolchinsky Z, Shivtiel S, Kouwenhoven EN, Putin D, Sprecher E, Zhou H, Rouleau M, Aberdam D.

Stem Cell Res. 2014 Jan;12(1):49-59. doi: 10.1016/j.scr.2013.09.015. Epub 2013 Oct 6.

PMID:
24145187
[PubMed - indexed for MEDLINE]
Free Article
7.

Genomic approaches for studying craniofacial disorders.

Khandelwal KD, van Bokhoven H, Roscioli T, Carels CE, Zhou H.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):218-31. doi: 10.1002/ajmg.c.31379. Epub 2013 Oct 18. Review.

PMID:
24142857
[PubMed - indexed for MEDLINE]
8.

A historical account of hoogsteen base-pairs in duplex DNA.

Nikolova EN, Zhou H, Gottardo FL, Alvey HS, Kimsey IJ, Al-Hashimi HM.

Biopolymers. 2013 Dec;99(12):955-68. doi: 10.1002/bip.22334.

PMID:
23818176
[PubMed - in process]
9.

De novo mutations in the genome organizer CTCF cause intellectual disability.

Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C.

Am J Hum Genet. 2013 Jul 11;93(1):124-31. doi: 10.1016/j.ajhg.2013.05.007. Epub 2013 Jun 6.

PMID:
23746550
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2152-6. doi: 10.1073/pnas.1201753109. Epub 2013 Jan 25.

PMID:
23355677
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.

Shen J, van den Bogaard EH, Kouwenhoven EN, Bykov VJ, Rinne T, Zhang Q, Tjabringa GS, Gilissen C, van Heeringen SJ, Schalkwijk J, van Bokhoven H, Wiman KG, Zhou H.

Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2157-62. doi: 10.1073/pnas.1201993110. Epub 2013 Jan 25.

PMID:
23355676
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A step closer toward therapies for p63-related disorders.

Zhou H, Aberdam D.

Rare Dis. 2013 Mar 12;1:e24247. doi: 10.4161/rdis.24247. eCollection 2013.

PMID:
25002990
[PubMed]
Free PMC Article
13.

p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.

Ferone G, Mollo MR, Thomason HA, Antonini D, Zhou H, Ambrosio R, De Rosa L, Salvatore D, Getsios S, van Bokhoven H, Dixon J, Missero C.

Hum Mol Genet. 2013 Feb 1;22(3):531-43. doi: 10.1093/hmg/dds464. Epub 2012 Oct 29.

PMID:
23108156
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The genetics of selective serotonin reuptake inhibitors.

Kroeze Y, Zhou H, Homberg JR.

Pharmacol Ther. 2012 Dec;136(3):375-400. doi: 10.1016/j.pharmthera.2012.08.015. Epub 2012 Sep 1. Review.

PMID:
22944042
[PubMed - indexed for MEDLINE]
15.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.

Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21.

PMID:
22726846
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H.

Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.

PMID:
22522421
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.

Ferone G, Thomason HA, Antonini D, De Rosa L, Hu B, Gemei M, Zhou H, Ambrosio R, Rice DP, Acampora D, van Bokhoven H, Del Vecchio L, Koster MI, Tadini G, Spencer-Dene B, Dixon M, Dixon J, Missero C.

EMBO Mol Med. 2012 Mar;4(3):192-205. doi: 10.1002/emmm.201100199. Epub 2012 Jan 13.

PMID:
22247000
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

p63-microRNA feedback in keratinocyte senescence.

Rivetti di Val Cervo P, Lena AM, Nicoloso M, Rossi S, Mancini M, Zhou H, Saintigny G, Dellambra E, Odorisio T, Mahé C, Calin GA, Candi E, Melino G.

Proc Natl Acad Sci U S A. 2012 Jan 24;109(4):1133-8. doi: 10.1073/pnas.1112257109. Epub 2012 Jan 6.

PMID:
22228303
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Vitamin A and clefting: putative biological mechanisms.

Ackermans MM, Zhou H, Carels CE, Wagener FA, Von den Hoff JW.

Nutr Rev. 2011 Oct;69(10):613-24. doi: 10.1111/j.1753-4887.2011.00425.x. Review.

PMID:
21967161
[PubMed - indexed for MEDLINE]
20.

TAp63 is important for cardiac differentiation of embryonic stem cells and heart development.

Rouleau M, Medawar A, Hamon L, Shivtiel S, Wolchinsky Z, Zhou H, De Rosa L, Candi E, de la Forest Divonne S, Mikkola ML, van Bokhoven H, Missero C, Melino G, Pucéat M, Aberdam D.

Stem Cells. 2011 Nov;29(11):1672-83. doi: 10.1002/stem.723.

PMID:
21898690
[PubMed - indexed for MEDLINE]
Free Article

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