Genomic organization and amplification of the human plakoglobin gene (JUP)

Experimental Dermatology

Volumn 9, Issue 5, 2000, Pages 323-326

  V whittock, N ^a,b   J eady, R A ^a   A mcgrath, J ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Adherens junction; Armadillo; Desmosomes; Heart; Skin

Indexed keywords

DESMOGLEIN; DESMOPLAKIN; PLAKOGLOBIN;

ARTICLE; CELL CLONING; CELL JUNCTION; CONTROLLED STUDY; DESMOSOME; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ORGANIZATION; HEART DISEASE; HUMAN; KERATODERMA; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SKIN DISEASE;

BASE SEQUENCE; CYTOSKELETAL PROTEINS; DESMOGLEIN 1; DESMOGLEINS; DESMOPLAKINS; DNA, COMPLEMENTARY; GAMMA CATENIN; GENE AMPLIFICATION; GENOME; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0033824043     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2000.009005323.x     Document Type: Article

References (20)

1. The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes
2. Aspects of the structure and assembly of desmosomes
3. Molecular organization of the desmoglein-plakoglobin complex
4. Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion
5. Plakoglobin, or an 83-kDa homologue distinct from beta-catenin, interacts with E-cadherin and N-cadherin
6. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
7. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
8. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
9. Haplo-insufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
10. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
11. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
12. Cardiac abnormalities in familial palmoplantar keratosis
13. Cardiomyopathy with arrhythmias and ectodermal dysplasia: A previously unreported association
14. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: Report of a family
15. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
16. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21
17. The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively
18. Embryonic heart and skin defects in mice lacking plakoglobin
19. Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart
20. Desmosomal localization of beta-catenin in the skin of plakoglobin null-mutant mice