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Results: 1 to 20 of 223

1.

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. Epub 2005 Aug 17.

PMID:
16175511
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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]
3.

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA.

J Invest Dermatol. 2002 Feb;118(2):232-8.

PMID:
11841538
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
15149499
[PubMed - indexed for MEDLINE]
5.

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP.

Hum Mol Genet. 2000 Nov 1;9(18):2761-6.

PMID:
11063735
[PubMed - indexed for MEDLINE]
Free Article
6.

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. doi: 10.1111/j.1365-2133.2010.09668.x. Epub 2010 Mar 10.

PMID:
20302578
[PubMed - indexed for MEDLINE]
7.

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ.

Lancet. 2000 Jun 17;355(9221):2119-24.

PMID:
10902626
[PubMed - indexed for MEDLINE]
8.
9.

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.

Asimaki A, Syrris P, Ward D, Guereta LG, Saffitz JE, McKenna WJ.

J Cutan Pathol. 2009 May;36(5):553-9. doi: 10.1111/j.1600-0560.2008.01112.x. Epub 2008 Oct 29.

PMID:
19178614
[PubMed - indexed for MEDLINE]
10.

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

Pigors M, Kiritsi D, Kr├╝mpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C.

Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14.

PMID:
21320868
[PubMed - indexed for MEDLINE]
Free Article
11.

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. Erratum in: Hum Mol Genet 1999 May;8(5):943.

PMID:
9887343
[PubMed - indexed for MEDLINE]
Free Article
12.

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 16;42(2):319-27.

PMID:
12875771
[PubMed - indexed for MEDLINE]
Free Article
13.

Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.

Protonotarios N, Tsatsopoulou A.

Cardiovasc Pathol. 2004 Jul-Aug;13(4):185-94. Review.

PMID:
15210133
[PubMed - indexed for MEDLINE]
14.

Desmoplakin is essential in epidermal sheet formation.

Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E.

Nat Cell Biol. 2001 Dec;3(12):1076-85.

PMID:
11781569
[PubMed - indexed for MEDLINE]
15.

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.

Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA.

Exp Dermatol. 2002 Apr;11(2):107-14.

PMID:
11994137
[PubMed - indexed for MEDLINE]
16.

Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation.

Spirito F, Chavanas S, Prost-Squarcioni C, Pulkkinen L, Fraitag S, Bodemer C, Ortonne JP, Meneguzzi G.

J Biol Chem. 2001 Jun 1;276(22):18828-35. Epub 2001 Mar 14.

PMID:
11279058
[PubMed - indexed for MEDLINE]
Free Article
17.

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.

Huber M, Floeth M, Borradori L, Sch├Ącke H, Rugg EL, Lane EB, Frenk E, Hohl D, Bruckner-Tuderman L.

J Invest Dermatol. 2002 Jan;118(1):185-92.

PMID:
11851893
[PubMed - indexed for MEDLINE]
Free Article
18.

Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.

Winik BC, Asial RA, McGrath JA, South AP, Boente MC.

Br J Dermatol. 2009 Apr;160(4):868-74. doi: 10.1111/j.1365-2133.2008.08946.x. Epub 2008 Nov 25.

PMID:
19067702
[PubMed - indexed for MEDLINE]
19.

Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks.

Stappenbeck TS, Bornslaeger EA, Corcoran CM, Luu HH, Virata ML, Green KJ.

J Cell Biol. 1993 Nov;123(3):691-705.

PMID:
7693716
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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

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