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Journal Abstract Search

242 related items for PubMed ID: 24665072

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  • 2. 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 28; 47(1):196. PubMed ID: 34583755
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  • 4. 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 28; 138(7):1662-1665. PubMed ID: 29481901
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  • 8. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
    Sawardekar SS, Zaenglein AL.
    Pediatr Dermatol; 2011 Jul 28; 28(3):313-7. PubMed ID: 20738799
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  • 9. 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 28; 163(3):624-9. PubMed ID: 20491771
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  • 11. Effects of TP63 mutations on keratinocyte adhesion and migration.
    Salois MN, Gugger JA, Webb S, Sheldon CE, Parraga SP, Lewitt GM, Grange DK, Koch PJ, Koster MI.
    Exp Dermatol; 2023 Sep 28; 32(9):1575-1581. PubMed ID: 37432020
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  • 13. 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 28; 46(5):422-425. PubMed ID: 30809829
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  • 14. 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 28; 167(1):134-44. PubMed ID: 22329826
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  • 15. 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 28; 149A(9):1952-7. PubMed ID: 19353588
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  • 16. 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 07; 91(3):435-43. PubMed ID: 22922031
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  • 17. 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 07; 149A(9):1885-93. PubMed ID: 19353643
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  • 18. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
    Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ.
    Eur J Med Genet; 2024 Apr 07; 68():104911. PubMed ID: 38281558
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  • 19. 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 07; 149A(9):1948-51. PubMed ID: 19676060
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  • 20. Sweating ability of patients with p63-associated syndromes.
    Ferstl P, Wohlfart S, Schneider H.
    Eur J Pediatr; 2018 Nov 07; 177(11):1727-1731. PubMed ID: 30088137
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