BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 16679535)

  • 1. NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome.
    Cicero DO; Falconi M; Candi E; Mele S; Cadot B; Di Venere A; Rufini S; Melino G; Desideri A
    Cell Biochem Biophys; 2006; 44(3):475-89. PubMed ID: 16679535
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63.
    Testoni B; Mantovani R
    Nucleic Acids Res; 2006; 34(3):928-38. PubMed ID: 16473849
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
    McGrath JA; Duijf PH; Doetsch V; Irvine AD; de Waal R; Vanmolkot KR; Wessagowit V; Kelly A; Atherton DJ; Griffiths WA; Orlow SJ; van Haeringen A; Ausems MG; Yang A; McKeon F; Bamshad MA; Brunner HG; Hamel BC; van Bokhoven H
    Hum Mol Genet; 2001 Feb; 10(3):221-9. PubMed ID: 11159940
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
    Shotelersuk V; Janklat S; Siriwan P; Tongkobpetch S
    Clin Exp Dermatol; 2005 May; 30(3):282-5. PubMed ID: 15807690
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon.
    Tsutsui K; Asai Y; Fujimoto A; Yamamoto M; Kubo M; Hatta N
    Br J Dermatol; 2003 Aug; 149(2):395-9. PubMed ID: 12932250
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structural basis of p63α SAM domain mutants involved in AEC syndrome.
    Sathyamurthy A; Freund SM; Johnson CM; Allen MD; Bycroft M
    FEBS J; 2011 Aug; 278(15):2680-8. PubMed ID: 21615690
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 16365259
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
    Prontera P; Escande F; Cocchi G; Donti E; Martini A; Sensi A
    Genet Couns; 2008; 19(4):397-402. PubMed ID: 19239083
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hay-Wells syndrome in a child with mutation in the TP73L gene.
    Garcia Bartels N; Neumann LM; Mleczko A; Rubach K; Peters H; Rossi R; Sterry W; Blume-Peytavi U
    J Dtsch Dermatol Ges; 2007 Oct; 5(10):919-23. PubMed ID: 17910675
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. p63-associated disorders.
    Rinne T; Brunner HG; van Bokhoven H
    Cell Cycle; 2007 Feb; 6(3):262-8. PubMed ID: 17224651
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.
    Lehmann K; Mundlos S; Meinecke P
    Eur J Pediatr; 2005 Aug; 164(8):530-1. PubMed ID: 15889277
    [No Abstract]   [Full Text] [Related]  

  • 15. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
    Barrow LL; van Bokhoven H; Daack-Hirsch S; Andersen T; van Beersum SE; Gorlin R; Murray JC
    J Med Genet; 2002 Aug; 39(8):559-66. PubMed ID: 12161593
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.
    Kantaputra PN; Hamada T; Kumchai T; McGrath JA
    J Dent Res; 2003 Jun; 82(6):433-7. PubMed ID: 12766194
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 19353588
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
    Russo C; Osterburg C; Sirico A; Antonini D; Ambrosio R; Würz JM; Rinnenthal J; Ferniani M; Kehrloesser S; Schäfer B; Güntert P; Sinha S; Dötsch V; Missero C
    Proc Natl Acad Sci U S A; 2018 Jan; 115(5):E906-E915. PubMed ID: 29339502
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.
    Browne G; Cipollone R; Lena AM; Serra V; Zhou H; van Bokhoven H; Dötsch V; Merico D; Mantovani R; Terrinoni A; Knight RA; Candi E; Melino G
    J Cell Sci; 2011 Jul; 124(Pt 13):2200-7. PubMed ID: 21652629
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.