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Results: 1 to 20 of 143

1.

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA.

Nat Genet. 1997 Oct;17(2):240-4.

PMID:
9326952
[PubMed - indexed for MEDLINE]
2.

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.

McGrath JA, Hoeger PH, Christiano AM, McMillan JR, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Lake BD, Leigh IM, Harper JI, Eady RA.

Br J Dermatol. 1999 Feb;140(2):297-307.

PMID:
10233227
[PubMed - indexed for MEDLINE]
3.

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]
4.

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.

Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA.

J Invest Dermatol. 2000 Sep;115(3):368-74.

PMID:
10951270
[PubMed - indexed for MEDLINE]
Free Article
5.

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Sürücü S, McGrath JA.

J Am Acad Dermatol. 2006 Jul;55(1):157-61.

PMID:
16781314
[PubMed - indexed for MEDLINE]
6.

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.

Sprecher E, Molho-Pessach V, Ingber A, Sagi E, Indelman M, Bergman R.

J Invest Dermatol. 2004 Mar;122(3):647-51.

PMID:
15086548
[PubMed - indexed for MEDLINE]
Free Article
7.
8.

A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.

McGrath JA.

J Dermatol. 1999 Nov;26(11):764-9. Review.

PMID:
10635620
[PubMed - indexed for MEDLINE]
9.

Ectodermal dysplasia-skin fragility syndrome.

McGrath JA, Mellerio JE.

Dermatol Clin. 2010 Jan;28(1):125-9. doi: 10.1016/j.det.2009.10.014. Review.

PMID:
19945625
[PubMed - indexed for MEDLINE]
10.

Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

Olivry T, Linder KE, Wang P, Bizikova P, Bernstein JA, Dunston SM, Paps JS, Casal ML.

PLoS One. 2012;7(2):e32072. doi: 10.1371/journal.pone.0032072. Epub 2012 Feb 22.

PMID:
22384142
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components.

Schmidt A, Langbein L, Rode M, Prätzel S, Zimbelmann R, Franke WW.

Cell Tissue Res. 1997 Dec;290(3):481-99.

PMID:
9369526
[PubMed - indexed for MEDLINE]
12.

Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.

Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE, Handyside AH, Eady RA, Braude PR, McGrath JA.

Prenat Diagn. 2000 Dec;20(13):1055-62.

PMID:
11180229
[PubMed - indexed for MEDLINE]
13.

Plakophilin 1: an important stabilizer of desmosomes.

South AP.

Clin Exp Dermatol. 2004 Mar;29(2):161-7. Review.

PMID:
14987275
[PubMed - indexed for MEDLINE]
14.

Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1.

McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA, Eady RA, Shimizu H.

J Invest Dermatol. 2003 Jul;121(1):96-103.

PMID:
12839569
[PubMed - indexed for MEDLINE]
Free Article
15.

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.

South AP, Wan H, Stone MG, Dopping-Hepenstal PJ, Purkis PE, Marshall JF, Leigh IM, Eady RA, Hart IR, McGrath JA.

J Cell Sci. 2003 Aug 15;116(Pt 16):3303-14. Epub 2003 Jul 2.

PMID:
12840072
[PubMed - indexed for MEDLINE]
Free Article
16.

Inherited disorders of desmosomes.

McGrath JA.

Australas J Dermatol. 2005 Nov;46(4):221-9. Review.

PMID:
16197419
[PubMed - indexed for MEDLINE]
17.

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. doi: 10.1111/j.1365-2133.2008.08900.x. Epub 2008 Oct 21.

PMID:
19016709
[PubMed - indexed for MEDLINE]
18.

Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein).

Heid HW, Schmidt A, Zimbelmann R, Schäfer S, Winter-Simanowski S, Stumpp S, Keith M, Figge U, Schnölzer M, Franke WW.

Differentiation. 1994 Dec;58(2):113-31.

PMID:
7890138
[PubMed - indexed for MEDLINE]
19.

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.

Boyce AE, McGrath JA, Techanukul T, Murrell DF, Chow CW, McGregor L, Warren LJ.

Australas J Dermatol. 2012 Feb;53(1):61-5. doi: 10.1111/j.1440-0960.2011.00846.x. Epub 2011 Dec 29.

PMID:
22309335
[PubMed - indexed for MEDLINE]
20.

Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.

Hernández-Martín A, Torrelo A, Ciria S, Colmenero I, Aguilar A, Grimalt R, González-Sarmiento R.

Clin Exp Dermatol. 2013 Oct;38(7):787-90. doi: 10.1111/ced.12109.

PMID:
24073657
[PubMed - indexed for MEDLINE]

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