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Items: 1 to 20 of 113

1.

Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.

Zarnegar BJ, Webster DE, Lopez-Pajares V, Vander Stoep Hunt B, Qu K, Yan KJ, Berk DR, Sen GL, Khavari PA.

Am J Hum Genet. 2012 Sep 7;91(3):435-43. doi: 10.1016/j.ajhg.2012.07.007. Epub 2012 Aug 23.

2.

Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

Gonzalez F, Loidi L, Abalo-Lojo JM.

Ophthalmic Genet. 2017 May-Jun;38(3):277-280. doi: 10.1080/13816810.2016.1210649. Epub 2016 Aug 2.

PMID:
27485918
3.

Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis.

Beaudry VG, Pathak N, Koster MI, Attardi LD.

Am J Med Genet A. 2009 Sep;149A(9):1952-7. doi: 10.1002/ajmg.a.32760.

4.

Modeling AEC-New approaches to study rare genetic disorders.

Koch PJ, Dinella J, Fete M, Siegfried EC, Koster MI.

Am J Med Genet A. 2014 Oct;164A(10):2443-54. doi: 10.1002/ajmg.a.36455. Epub 2014 Mar 24. Review.

5.

International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.

Fete M, vanBokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, Missero C, Attardi LD, Lombillo VA, Ratovitski E, Julapalli M, Ruths D, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1885-93. doi: 10.1002/ajmg.a.32761.

6.

DeltaNp63 knockdown mice: A mouse model for AEC syndrome.

Koster MI, Marinari B, Payne AS, Kantaputra PN, Costanzo A, Roop DR.

Am J Med Genet A. 2009 Sep;149A(9):1942-7. doi: 10.1002/ajmg.a.32794.

7.

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.

8.

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.

9.

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Serra V, Castori M, Paradisi M, Bui L, Melino G, Terrinoni A.

Am J Med Genet A. 2011 Dec;155A(12):3104-9. doi: 10.1002/ajmg.a.34335. Epub 2011 Nov 8.

10.

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M.

Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7.

PMID:
22065614
11.

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H.

Am J Med Genet A. 2009 Sep;149A(9):1948-51. doi: 10.1002/ajmg.a.32793.

PMID:
19676060
12.

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA.

Br J Dermatol. 2010 Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Review.

PMID:
20491771
13.

Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins.

Chung J, Grant RI, Kaplan DR, Irwin MS.

J Biol Chem. 2011 Nov 25;286(47):40671-80. doi: 10.1074/jbc.M111.271189. Epub 2011 Sep 29.

14.

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.

Payne AS, Yan AC, Ilyas E, Li W, Seykora JT, Young TL, Pawel BR, Honig PJ, Camacho J, Imaizumi S, Heymann WR, Schnur RE.

Arch Dermatol. 2005 Dec;141(12):1567-73.

PMID:
16365259
15.

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

Clements SE, Techanukul T, Lai-Cheong JE, Mee JB, South AP, Pourreyron C, Burrows NP, Mellerio JE, McGrath JA.

Br J Dermatol. 2012 Jul;167(1):134-44. doi: 10.1111/j.1365-2133.2012.10888.x. Epub 2012 May 14.

PMID:
22329826
16.

[Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].

Han D, Wu H, Zhang XX, Feng HL.

Zhonghua Kou Qiang Yi Xue Za Zhi. 2010 Dec;45(12):767-9. Chinese.

PMID:
21211247
17.

Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.

Koster MI, Dinella J, Chen J, O'Shea C, Koch PJ.

Cell Commun Adhes. 2014 Feb;21(1):55-63. doi: 10.3109/15419061.2013.876015. Review.

18.

Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.

Sawardekar SS, Zaenglein AL.

Pediatr Dermatol. 2011 May-Jun;28(3):313-7. doi: 10.1111/j.1525-1470.2010.01207.x. Epub 2010 Aug 4.

PMID:
20738799
19.

Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63.

Testoni B, Mantovani R.

Nucleic Acids Res. 2006 Feb 9;34(3):928-38. Print 2006. Erratum in: Nucleic Acids Res. 2014 Jan;42(2):1391.

20.

Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.

PMID:
19681128

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