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Results: 1 to 20 of 131

1.

Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy.

Campuzano O, Alcalde M, Berne P, Zorio E, Iglesias A, Navarro-Manchón J, Brugada J, Brugada R.

Eur J Med Genet. 2013 Oct;56(10):541-5. doi: 10.1016/j.ejmg.2013.08.001. Epub 2013 Aug 14.

PMID:
23954618
[PubMed - indexed for MEDLINE]
2.

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.

Clin Genet. 2013 Jul;84(1):20-30. doi: 10.1111/cge.12056. Epub 2012 Dec 3.

PMID:
23137101
[PubMed - indexed for MEDLINE]
3.

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 Sep 4;142:w13670. doi: 10.4414/smw.2012.13670.

PMID:
22949226
[PubMed - indexed for MEDLINE]
Free Article
4.

Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/β-catenin signaling pathway in human lung cancer.

Yang L, Chen Y, Cui T, Knösel T, Zhang Q, Albring KF, Huber O, Petersen I.

Carcinogenesis. 2012 Oct;33(10):1863-70. doi: 10.1093/carcin/bgs226. Epub 2012 Jul 12.

PMID:
22791817
[PubMed - indexed for MEDLINE]
Free Article
5.

The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.

Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP.

J Cell Sci. 2012 Jun 15;125(Pt 12):2853-61. doi: 10.1242/jcs.084152. Epub 2012 Mar 27.

PMID:
22454510
[PubMed - indexed for MEDLINE]
Free Article
6.

Plasma desmoplakin I biomarker of vascular recurrence after ischemic stroke.

López-Farré AJ, Zamorano-León JJ, Segura A, Mateos-Cáceres PJ, Modrego J, Rodríguez-Sierra P, Calatrava L, Tamargo J, Macaya C.

J Neurochem. 2012 Apr;121(2):314-25. doi: 10.1111/j.1471-4159.2012.07683.x. Epub 2012 Mar 13.

PMID:
22304020
[PubMed - indexed for MEDLINE]
7.

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study.

Gomes J, Finlay M, Ahmed AK, Ciaccio EJ, Asimaki A, Saffitz JE, Quarta G, Nobles M, Syrris P, Chaubey S, McKenna WJ, Tinker A, Lambiase PD.

Eur Heart J. 2012 Aug;33(15):1942-53. doi: 10.1093/eurheartj/ehr472. Epub 2012 Jan 11.

PMID:
22240500
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Desmoplakin as a potential candidate for cerebrospinal fluid marker to rule out 14-3-3 false positive rates in sporadic Creutzfeldt-Jakob disease differential diagnosis.

Gawinecka J, Ciesielczyk B, Sanchez-Juan P, Schmitz M, Heinemann U, Zerr I.

Neurodegener Dis. 2012;9(3):139-44. doi: 10.1159/000334499. Epub 2011 Dec 31.

PMID:
22213780
[PubMed - indexed for MEDLINE]
9.

Desmoplakin regulates desmosome hyperadhesion.

Hobbs RP, Green KJ.

J Invest Dermatol. 2012 Feb;132(2):482-5. doi: 10.1038/jid.2011.318. Epub 2011 Oct 13. No abstract available.

PMID:
21993560
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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. doi: 10.1007/s00392-011-0345-9. Epub 2011 Jul 26.

PMID:
21789513
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations.

Al-Jassar C, Knowles T, Jeeves M, Kami K, Behr E, Bikker H, Overduin M, Chidgey M.

J Mol Biol. 2011 Sep 2;411(5):1049-61. doi: 10.1016/j.jmb.2011.06.047. Epub 2011 Jul 2.

PMID:
21756917
[PubMed - indexed for MEDLINE]
12.

Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain.

Choi HJ, Weis WI.

J Mol Biol. 2011 Jun 24;409(5):800-12. doi: 10.1016/j.jmb.2011.04.046. Epub 2011 Apr 22.

PMID:
21536047
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

[Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin].

Navarro-Manchón J, Fernández E, Igual B, Asimaki A, Syrris P, Osca J, Salvador A, Zorio E.

Rev Esp Cardiol. 2011 Jun;64(6):530-4. doi: 10.1016/j.recesp.2010.10.020. Epub 2011 Mar 31. Spanish.

PMID:
21458130
[PubMed - indexed for MEDLINE]
Free Article
14.

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.

J Dent Res. 2011 Jan;90(1):58-64. doi: 10.1177/0022034510383984. Epub 2010 Oct 12.

PMID:
20940358
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22.

PMID:
20738328
[PubMed - indexed for MEDLINE]
16.

Identification and characterization of DSPIa, a novel isoform of human desmoplakin.

Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP.

Cell Tissue Res. 2010 Jul;341(1):121-9. doi: 10.1007/s00441-010-0989-1. Epub 2010 Jun 4.

PMID:
20524011
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Lethal acantholytic epidermolysis bullosa.

McGrath JA, Bolling MC, Jonkman MF.

Dermatol Clin. 2010 Jan;28(1):131-5. doi: 10.1016/j.det.2009.10.015. Review.

PMID:
19945626
[PubMed - indexed for MEDLINE]
18.

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.

Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S.

J Invest Dermatol. 2010 Apr;130(4):968-78. doi: 10.1038/jid.2009.357. Epub 2009 Nov 19.

PMID:
19924139
[PubMed - indexed for MEDLINE]
Free Article
19.

Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer.

Papagerakis S, Shabana AH, Pollock BH, Papagerakis P, Depondt J, Berdal A.

Hum Pathol. 2009 Sep;40(9):1320-9. doi: 10.1016/j.humpath.2009.02.002. Epub 2009 Apr 22.

PMID:
19386346
[PubMed - indexed for MEDLINE]
20.

Increased keratinocyte proliferation initiated through downregulation of desmoplakin by RNA interference.

Wan H, South AP, Hart IR.

Exp Cell Res. 2007 Jul 1;313(11):2336-44. Epub 2007 Jan 30.

PMID:
17475244
[PubMed - indexed for MEDLINE]

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