Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome-Reference-Cited by-同舟云学术

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Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Published:2000-09 Issue:3 Volume:115 Page:368-374
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Whittock Neil V.,Eady Robin A.J.,McGrath John A.,Haftek Marek,Angoulvant Nathalie,Wolf François,Perrot Henri

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference38 articles.

1. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma;Armstrong;Hum Mol Genet,1999

2. Exon recognition in vertebrate splicing;Berget;J Biol Chem,1995

3. Chromosomal mapping of human armadillo genes belonging to the p120 (ctn) /plakophilin subfamily;Bonne;Genomics,1998

4. Molecular organization of the desmoglein-plakoglobin complex;Chitaev;J Cell Sci,1998

5. Cytoskeleton–membrane interactions;Cowin;Curr Opin Cell Biol,1996

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

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

5. Ectodermal Dysplasias;Harper's Textbook of Pediatric Dermatology;2019-11-20

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