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3. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Al-Owain M; Wakil S; Shareef F; Al-Fatani A; Hamadah E; Haider M; Al-Hindi H; Awaji A; Khalifa O; Baz B; Ramadhan R; Meyer B Clin Genet; 2011 Jul; 80(1):50-8. PubMed ID: 20738328 [TBL] [Abstract][Full Text] [Related]
4. Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy. Bari O; Skillman S; Lah MD; Haggstrom AN Pediatr Dermatol; 2018 Jul; 35(4):e218-e220. PubMed ID: 29633331 [TBL] [Abstract][Full Text] [Related]
5. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma. Verkerk AJMH; Andrei D; Vermeer MCSC; Kramer D; Schouten M; Arp P; Verlouw JAM; Pas HH; Meijer HJ; van der Molen M; Oberdorf-Maass S; Nijenhuis M; Romero-Herrera PH; Hoes MF; Bremer J; Slotman JA; van den Akker PC; Diercks GFH; Giepmans BNG; Stoop H; Saris JJ; van den Ouweland AMW; Willemsen R; Hublin JJ; Dean MC; Hoogeboom AJM; Silljé HHW; Uitterlinden AG; van der Meer P; Bolling MC J Invest Dermatol; 2024 Feb; 144(2):284-295.e16. PubMed ID: 37716648 [TBL] [Abstract][Full Text] [Related]
6. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Jonkman MF; Pasmooij AM; Pasmans SG; van den Berg MP; Ter Horst HJ; Timmer A; Pas HH Am J Hum Genet; 2005 Oct; 77(4):653-60. PubMed ID: 16175511 [TBL] [Abstract][Full Text] [Related]
7. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. Alcalai R; Metzger S; Rosenheck S; Meiner V; Chajek-Shaul T J Am Coll Cardiol; 2003 Jul; 42(2):319-27. PubMed ID: 12875771 [TBL] [Abstract][Full Text] [Related]
8. De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. Keller DI; Stepowski D; Balmer C; Simon F; Guenthard J; Bauer F; Itin P; David N; Drouin-Garraud V; Fressart V Swiss Med Wkly; 2012; 142():w13670. PubMed ID: 22949226 [TBL] [Abstract][Full Text] [Related]
9. Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. Antonov NK; Kingsbery MY; Rohena LO; Lee TM; Christiano A; Garzon MC; Lauren CT Pediatr Dermatol; 2015; 32(1):102-8. PubMed ID: 25516398 [TBL] [Abstract][Full Text] [Related]
10. Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. Maruthappu T; Posafalvi A; Castelletti S; Delaney PJ; Syrris P; O'Toole EA; Green KJ; Elliott PM; Lambiase PD; Tinker A; McKenna WJ; Kelsell DP Br J Dermatol; 2019 May; 180(5):1114-1122. PubMed ID: 30382575 [TBL] [Abstract][Full Text] [Related]
11. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Wan H; Dopping-Hepenstal PJ; Gratian MJ; Stone MG; Zhu G; Purkis PE; South AP; Keane F; Armstrong DK; Buxton RS; McGrath JA; Eady RA Br J Dermatol; 2004 May; 150(5):878-91. PubMed ID: 15149499 [TBL] [Abstract][Full Text] [Related]
12. Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. Pigors M; Schwieger-Briel A; Cosgarea R; Diaconeasa A; Bruckner-Tuderman L; Fleck T; Has C Acta Derm Venereol; 2015 Mar; 95(3):337-40. PubMed ID: 25227139 [TBL] [Abstract][Full Text] [Related]
13. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Armstrong DK; McKenna KE; Purkis PE; Green KJ; Eady RA; Leigh IM; Hughes AE Hum Mol Genet; 1999 Jan; 8(1):143-8. PubMed ID: 9887343 [TBL] [Abstract][Full Text] [Related]
15. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. Uzumcu A; Norgett EE; Dindar A; Uyguner O; Nisli K; Kayserili H; Sahin SE; Dupont E; Severs NJ; Leigh IM; Yuksel-Apak M; Kelsell DP; Wollnik B J Med Genet; 2006 Feb; 43(2):e5. PubMed ID: 16467215 [TBL] [Abstract][Full Text] [Related]
16. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Tanaka A; Lai-Cheong JE; Café ME; Gontijo B; Salomão PR; Pereira L; McGrath JA Br J Dermatol; 2009 Mar; 160(3):692-7. PubMed ID: 19016709 [TBL] [Abstract][Full Text] [Related]
17. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Kelly SC; Ratajczak P; Keller M; Purcell SM; Griffin T; Richard G Eur J Dermatol; 2006; 16(3):241-5. PubMed ID: 16709485 [TBL] [Abstract][Full Text] [Related]
19. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Lai Cheong JE; Wessagowit V; McGrath JA Clin Exp Dermatol; 2005 May; 30(3):261-6. PubMed ID: 15807686 [TBL] [Abstract][Full Text] [Related]
20. Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. Yesudian PD; Cabral RM; Ladusans E; Spinty S; Gibbs J; Fryer A; Christiano AM; Mendelsohn SS Clin Exp Dermatol; 2014 Jun; 39(4):506-8. PubMed ID: 24825141 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]