(Q24538571)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

main subject

peeling skin syndrome

1 reference

acral peeling skin syndrome

inferred from title

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Maurice van Steensel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Alessandro Terrinoni

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Irwin McLean

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

4

Michel van Geel

1 reference

14 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

3

Peter M Steijlen

1 reference

14 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

Jaap van der Velden

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Susan M Morley

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Gerry Melino

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Eleonora Candi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

language of work or name

English

0 references

publication date

11 October 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

14 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

909-917

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Comparative protein modelling by satisfaction of spatial restraints

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Barrier function of the skin: "la raison d'être" of the epidermis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

The cornified envelope: a model of cell death in the skin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Transglutaminase function in epidermis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Keratins and skin disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Progress in epidermolysis bullosa: genetic classification and clinical implications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Epithelial barrier function: assembly and structural features of the cornified cell envelope

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Continual skin peeling syndrome. An electron microscopic study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Acral peeling skin syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Familial continual skin peeling.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285176

Acral peeling skin syndrome

29 November 2018

1 reference

12 December 2020

The prevalence of epidermolysis bullosa in Scotland

1 reference

12 December 2020

Expression of transglutaminase 5 in normal and pathologic human epidermis

1 reference

12 December 2020

Familial continual skin peeling

1 reference

12 December 2020

The peeling skin syndrome

1 reference

12 December 2020

Peeling skin syndrome: a clinical, ultrastructural and biochemical study

1 reference

12 December 2020

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

1 reference

12 December 2020

Identifiers

DOI

10.1086/497707

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

14 January 2020

4022787

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16380904%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference