(Q42334449)

27 October 2017

0 references

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening (English)

1 reference

27 October 2017

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

M-L Lovgren

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Christian Cole

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

M A McAleer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

N J Wilson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

S Tavadia

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

M E Schwartz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

A Sandilands

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

F J D Smith

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

M Zamiri

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

English

0 references

publication date

18 August 2016

1 reference

British Journal of Dermatology

27 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

1345-1350

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Palmoplantar keratodermas

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Molecular genetics of the inherited disorders of cornification: an update.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Novel mutations in DSG1 causing striate palmoplantar keratoderma.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5485079

Focal Palmoplantar Keratoderma Caused by an Autosomal Dominant Inherited Mutation in the Desmoglein 1 Gene

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FBJD.14973

Desmosomes exhibit site-specific features in human palm skin

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27534273

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27534273

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27534273

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/BJD.14973

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27534273%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference