PubMed (cited) for id: 125647

Year	Number of Results
1990	2
1991	1
1992	2
1993	1
1996	1
1997	2
1999	2
2000	1
2001	2
2002	3
2003	1
2005	1
2006	3
2010	5
2011	2
2012	2
2013	1
2014	1
2015	2
2016	1
2018	1
2024	0

1

A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin.

Favre B, Begré N, Borradori L. Favre B, et al. Br J Dermatol. 2018 Sep;179(3):797-799. doi: 10.1111/bjd.16832. Epub 2018 Jul 31. Br J Dermatol. 2018. PMID: 29878302 No abstract available.

2

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA. Boyden LM, et al. Hum Mol Genet. 2016 Jan 15;25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604139 Free PMC article.

3

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. McAleer MA, et al. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12. J Allergy Clin Immunol. 2015. PMID: 26073755 Free PMC article.

4

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.

Vahlquist A, Virtanen M, Hellström-Pigg M, Dragomir A, Ryberg K, Wilson NJ, Östman--Smith I, Lu L, McGrath JA, Smith FJ. Vahlquist A, et al. Clin Exp Dermatol. 2014 Jan;39(1):30-4. doi: 10.1111/ced.12226. Clin Exp Dermatol. 2014. PMID: 24341478

5

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.

Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Sørensen KE, Baandrup UT, Bross P, Mogensen J. Rasmussen TB, et al. Clin Genet. 2013 Jul;84(1):20-30. doi: 10.1111/cge.12056. Epub 2012 Dec 3. Clin Genet. 2013. PMID: 23137101

6

Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.

Boulé S, Fressart V, Laux D, Mallet A, Simon F, de Groote P, Bonnet D, Klug D, Charron P. Boulé S, et al. Int J Cardiol. 2012 Nov 1;161(1):50-2. doi: 10.1016/j.ijcard.2012.06.068. Epub 2012 Jul 12. Int J Cardiol. 2012. PMID: 22795705 No abstract available.

7

A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.

Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P. Chalabreysse L, et al. J Dent Res. 2011 Jan;90(1):58-64. doi: 10.1177/0022034510383984. Epub 2010 Oct 12. J Dent Res. 2011. PMID: 20940358

8

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Christensen AH, et al. J Med Genet. 2010 Nov;47(11):736-44. doi: 10.1136/jmg.2010.077891. Epub 2010 Sep 23. J Med Genet. 2010. PMID: 20864495

9

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. Al-Owain M, et al. Clin Genet. 2011 Jul;80(1):50-8. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22. Clin Genet. 2011. PMID: 20738328

10

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ. Hobbs RP, et al. J Invest Dermatol. 2010 Nov;130(11):2680-3. doi: 10.1038/jid.2010.189. Epub 2010 Jul 8. J Invest Dermatol. 2010. PMID: 20613772 Free PMC article. No abstract available.

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