278 related articles for article (PubMed ID: 23463580)
1. 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]
2. 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. PubMed ID: 22069181
[TBL] [Abstract][Full Text] [Related]
3. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E
Am J Med Genet A; 2011 Nov; 155A(11):2746-9. PubMed ID: 21990121
[TBL] [Abstract][Full Text] [Related]
4. ADULT syndrome caused by a mutation previously associated with EEC syndrome.
Avitan-Hersh E; Indelman M; Bergman R; Sprecher E
Pediatr Dermatol; 2010; 27(6):643-5. PubMed ID: 21078104
[TBL] [Abstract][Full Text] [Related]
5. ADULT syndrome due to an R243W mutation in TP63.
Berk DR; Armstrong NL; Shinawi M; Whelan AJ
Int J Dermatol; 2012 Jun; 51(6):693-6. PubMed ID: 22607287
[TBL] [Abstract][Full Text] [Related]
6. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Otsuki Y; Ueda K; Nuri T; Satoh C; Maekawa R; Yoshiura KI
Medicine (Baltimore); 2020 Oct; 99(44):e22816. PubMed ID: 33126320
[TBL] [Abstract][Full Text] [Related]
7. 'Double trouble': diagnostic challenges in genetic skin disorders.
Kiritsi D; Valari M; Mileounis K; Bruckner-Tuderman L; Has C
Br J Dermatol; 2015 Jan; 172(1):276-8. PubMed ID: 24902867
[No Abstract] [Full Text] [Related]
8. ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.
de Almeida HL; van Steensel M; Rocha A; Caspary P; Meijer R
Int J Dermatol; 2019 Mar; 58(3):e72-e75. PubMed ID: 30656674
[No Abstract] [Full Text] [Related]
9. TP63 gene mutations in Chinese P63 syndrome patients.
Yin W; Ye X; Shi L; Wang QK; Jin H; Wang P; Bian Z
J Dent Res; 2010 Aug; 89(8):813-7. PubMed ID: 20410354
[TBL] [Abstract][Full Text] [Related]
10. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
Whittington A; Stein S; Kenner-Bell B
Pediatr Dermatol; 2016 Sep; 33(5):e322-6. PubMed ID: 27469932
[TBL] [Abstract][Full Text] [Related]
11. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes
Hizem S; Maamouri R; Zaouak A; Rejeb I; Karoui S; Sebai M; Jilani H; Elaribi Y; Fenniche S; Cheour M; Bilan F; Ben Jemaa L
Ophthalmic Genet; 2024 Feb; 45(1):84-94. PubMed ID: 37158316
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.
Wei J; Xue Y; Wu L; Ma J; Yi X; Zhang J; Lu B; Li C; Shi D; Shi S; Feng X; Cai T
PLoS One; 2012; 7(5):e35337. PubMed ID: 22574117
[TBL] [Abstract][Full Text] [Related]
15. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
Brueggemann FB; Bartsch O
Clin Dysmorphol; 2016 Apr; 25(2):50-3. PubMed ID: 26882220
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY; Zeng L; Li K; He JQ; Pang X; Huang H; Xiang R; Tang JY
J Gene Med; 2019 Oct; 21(10):e3122. PubMed ID: 31420900
[TBL] [Abstract][Full Text] [Related]
17. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
Gawrych E; Bińczak-Kuleta A; Janiszewska-Olszowska J; Ciechanowicz A
Ann Acad Med Stetin; 2013; 59(1):11-4. PubMed ID: 24734328
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.
Ergin H; Semerci CN; Karakuş YT; Scheffer H; Ergin S; Koltuksuz U; Meijer R; Satiroğlu-Tufan NL
Turk J Pediatr; 2010; 52(5):529-33. PubMed ID: 21434540
[TBL] [Abstract][Full Text] [Related]
20. Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.
Barbaro V; Nasti AA; Del Vecchio C; Ferrari S; Migliorati A; Raffa P; Lariccia V; Nespeca P; Biasolo M; Willoughby CE; Ponzin D; Palù G; Parolin C; Di Iorio E
Stem Cells; 2016 Jun; 34(6):1588-600. PubMed ID: 26891374
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
