Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1-Reference-Cited by-同舟云学术

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

Published:2002-04 Issue:2 Volume:11 Page:107-114
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:

Author:

Hamada T.,South A. P.,Mitsuhashi Y.,Kinebuchi T.,Bleck O.,Ashton G. H. S.,Hozumi Y.,Suzuki T.,Hashimoto T.,Eady R. A. J.,McGrath J. A.

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1600-0625.2002.110202.x/fullpdf

Reference17 articles.

1. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome;McGrath;Nature Genet,1997

2. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1;McGrath;Br J Dermatol,1999

3. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome;Whittock;J Invest Dermatol,2000

4. Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family;Hatzfeld;J Cell Sci,1994

5. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components;Schmidt;Cell Tissue Res,1997

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1. Plakophilin 1 in carcinogenesis;Molecular Carcinogenesis;2024-06-18

2. Ectodermal dysplasia-skin fragility syndrome – identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing;Indian Journal of Dermatology, Venereology and Leprology;2024-03-02

3. Ectodermal dysplasia‐skin fragility syndrome: two new cases with a novel missense mutation;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-10-30

4. Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*;British Journal of Dermatology;2020-08-02

5. Ectodermal dysplasia‐skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis;Experimental Dermatology;2020-05-25

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