(Q28305347)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

main subject

congenital disorder

0 references

epidermolysis bullosa

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Leena Bruckner-Tuderman

9

object named as

Leena Bruckner-Tuderman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Manuela Pigors

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Sebastian Krümpelmann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Nicola Wagner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Yinghong He

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Maurizio Podda

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jürgen Kohlhase

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Ingrid Hausser

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Cristina Has

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

14 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

1811-1819

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21320868%20AND%20SRC:MED&resulttype=core&format=json

Working out the strength and flexibility of desmosomes

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

21 January 2018

Desmosomes at a glance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Genetic diseases of junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

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/10.1093%2FHMG%2FDDR064

A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Embryonic heart and skin defects in mice lacking plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Developmental anatomy of the heart: a tale of mice and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Mechanisms of plakoglobin-dependent adhesion: desmosome-specific functions in assembly and regulation by epidermal growth factor receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Cross-talk between adherens junctions and desmosomes depends on plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Defining desmosomal plakophilin-3 interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Targeting of p0071 to desmosomes and adherens junctions is mediated by different protein domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Calcium pump disorders of the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Plasmin plays a role in the in vitro generation of the linear IgA dermatosis antigen LADB97.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Identification of Plakoglobin Domains Required for Association with N-cadherin and α-Catenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Single amino acid substitutions in proteins of the armadillo gene family abolish their binding to alpha-catenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Identification of amino acid sequence motifs in desmocollin, a desmosomal glycoprotein, that are required for plakoglobin binding and plaque formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Desmosomal cadherin binding domains of plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064

Defining the interactions between intermediate filaments and desmosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR064