149 related articles for article (PubMed ID: 22331572)
1. p63 and FGFR: when development meets proliferation.
Dotto GP
EMBO Mol Med; 2012 Mar; 4(3):165-7. PubMed ID: 22331572
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 22247000
[TBL] [Abstract][Full Text] [Related]
3. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules.
Hida T; Kase K; Hamada T; Matsuda M; Hashimoto T; Yamashita T
Eur J Dermatol; 2014; 24(4):495-7. PubMed ID: 24898013
[No Abstract] [Full Text] [Related]
4. 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. PubMed ID: 24460201
[TBL] [Abstract][Full Text] [Related]
5. Sweating ability of patients with p63-associated syndromes.
Ferstl P; Wohlfart S; Schneider H
Eur J Pediatr; 2018 Nov; 177(11):1727-1731. PubMed ID: 30088137
[TBL] [Abstract][Full Text] [Related]
6. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
Serra G; Antona V; Giuffré M; Li Pomi F; Lo Scalzo L; Piro E; Schierz IAM; Corsello G
Ital J Pediatr; 2021 Sep; 47(1):196. PubMed ID: 34583755
[TBL] [Abstract][Full Text] [Related]
7. A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias.
Dinella JD; Chen J; Webb S; Siegfried E; Bree AF; Lakshmanachetty S; Balaiya V; Koster MI; Koch PJ
J Invest Dermatol; 2018 Jul; 138(7):1662-1665. PubMed ID: 29481901
[No Abstract] [Full Text] [Related]
8. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
Niculescu L; Wagner M; Westphal DS; Fischer M; Mihatsch W; Prothmann A; Ruzicka T; Wollenberg A; Wolff H; Schmidt H; Giehl KA
Acta Derm Venereol; 2019 Jan; 99(1):111-112. PubMed ID: 29956718
[No Abstract] [Full Text] [Related]
9. 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; 110(6):2152-6. PubMed ID: 23355677
[TBL] [Abstract][Full Text] [Related]
10. Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity.
Novelli F; Lena AM; Panatta E; Nasser W; Shalom-Feuerstein R; Candi E; Melino G
Cell Death Dis; 2016 May; 7(5):e2227. PubMed ID: 27195674
[TBL] [Abstract][Full Text] [Related]
11. 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; 38(3):277-280. PubMed ID: 27485918
[TBL] [Abstract][Full Text] [Related]
12. 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; 110(6):2157-62. PubMed ID: 23355676
[TBL] [Abstract][Full Text] [Related]
13. TP63-related disorders: two case reports and a brief review of the literature.
Nanda A; AlLafi A; Wolf S; AlMasry IM; Betz R
Dermatol Online J; 2021 Nov; 27(11):. PubMed ID: 35130400
[TBL] [Abstract][Full Text] [Related]
14. Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.
Zhang Z; Cheng R; Liang J; Lu Z; Wang Y; Li M; Yu H; Yao Z
J Dermatol; 2019 May; 46(5):422-425. PubMed ID: 30809829
[TBL] [Abstract][Full Text] [Related]
15. EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.
Monti P; Russo D; Bocciardi R; Foggetti G; Menichini P; Divizia MT; Lerone M; Graziano C; Wischmeijer A; Viadiu H; Ravazzolo R; Inga A; Fronza G
Hum Mutat; 2013 Jun; 34(6):894-904. PubMed ID: 23463580
[TBL] [Abstract][Full Text] [Related]
16. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
Vera-Carbonell A; Moya-Quiles MR; Ballesta-Martínez M; López-González V; Bafallíu JA; Guillén-Navarro E; López-Expósito I
Gene; 2012 Apr; 497(2):292-7. PubMed ID: 22342398
[TBL] [Abstract][Full Text] [Related]
17. Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Zheng J; Liu H; Zhan Y; Liu Y; Wong SW; Cai T; Feng H; Han D
Mol Genet Genomic Med; 2019 Jun; 7(6):e704. PubMed ID: 31050217
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 19676060
[TBL] [Abstract][Full Text] [Related]
19. A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?
Chiu YE; Drolet BA; Duffy KJ; Holland KE
Pediatr Dermatol; 2011; 28(1):15-9. PubMed ID: 19793345
[TBL] [Abstract][Full Text] [Related]
20. 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; 286(47):40671-80. PubMed ID: 21965674
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]