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22. Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function. Mohammed F; Odintsova E; Chidgey M Int J Mol Sci; 2022 Jan; 23(1):. PubMed ID: 35008956 [TBL] [Abstract][Full Text] [Related]
23. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Erken H; Yariz KO; Duman D; Kaya CT; Sayin T; Heper AO; Tekin M Br J Dermatol; 2011 Oct; 165(4):917-21. PubMed ID: 21668431 [TBL] [Abstract][Full Text] [Related]
25. Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. Williams T; Machann W; Kühler L; Hamm H; Müller-Höcker J; Zimmer M; Ertl G; Ritter O; Beer M; Schönberger J Clin Res Cardiol; 2011 Dec; 100(12):1087-93. PubMed ID: 21789513 [TBL] [Abstract][Full Text] [Related]
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28. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. Polivka L; Bodemer C; Hadj-Rabia S J Med Genet; 2016 May; 53(5):289-95. PubMed ID: 26399581 [TBL] [Abstract][Full Text] [Related]
29. Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin. Tekin B; Yucelten D; Liu L; McGrath JA Australas J Dermatol; 2017 Feb; 58(1):e17-e19. PubMed ID: 26303123 [TBL] [Abstract][Full Text] [Related]
30. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. Norgett EE; Lucke TW; Bowers B; Munro CS; Leigh IM; Kelsell DP J Invest Dermatol; 2006 Jul; 126(7):1651-4. PubMed ID: 16628197 [No Abstract] [Full Text] [Related]
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32. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. Bolling MC; Veenstra MJ; Jonkman MF; Diercks GF; Curry CJ; Fisher J; Pas HH; Bruckner AL Br J Dermatol; 2010 Jun; 162(6):1388-94. PubMed ID: 20302578 [TBL] [Abstract][Full Text] [Related]
34. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Irvine AD; McLean WH Br J Dermatol; 1999 May; 140(5):815-28. PubMed ID: 10354017 [TBL] [Abstract][Full Text] [Related]
35. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Yang Z; Bowles NE; Scherer SE; Taylor MD; Kearney DL; Ge S; Nadvoretskiy VV; DeFreitas G; Carabello B; Brandon LI; Godsel LM; Green KJ; Saffitz JE; Li H; Danieli GA; Calkins H; Marcus F; Towbin JA Circ Res; 2006 Sep; 99(6):646-55. PubMed ID: 16917092 [TBL] [Abstract][Full Text] [Related]
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38. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Ou S; Cesarato N; Mauran P; Gellé MP; Thiele H; Betz RC; Viguier M; Gusdorf L Clin Exp Dermatol; 2022 Jul; 47(7):1424-1426. PubMed ID: 35574671 [TBL] [Abstract][Full Text] [Related]
39. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. Tosti A; Misciali C; Piraccini BA; Fanti PA; Barbareschi M; Ferretti RM Arch Dermatol; 1994 Apr; 130(4):522-4. PubMed ID: 8166494 [No Abstract] [Full Text] [Related]