(Q28216680)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

genotype-phenotype correlation

10 December 2019

main subject

1 reference

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

T Hamada

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

A P South

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Y Mitsuhashi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

T Kinebuchi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

O Bleck

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

G H S Ashton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Y Hozumi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

T Suzuki

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

T Hashimoto

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

R A J Eady

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 April 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

published in

Experimental Dermatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

107-114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

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

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

Are desmosomes more than tethers for intermediate filaments?

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1034/J.1600-0625.2002.110202.X

The function of plakophilin 1 in desmosome assembly and actin filament organization

21 April 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.110202.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.110202.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.110202.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.110202.X

The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.110202.X

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.110202.X

10.1034/J.1600-0625.2002.110202.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11994137%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference