(Q34389082)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

epidermolytic hyperkeratosis

11 November 2019

main subject

1 reference

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

V P Sybert

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J S Francis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

L D Corden

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

L T Smith

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M Weaver

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

K Stephens

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 March 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

64

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

732-738

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

11 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Human keratin diseases: hereditary fragility of specific epithelial tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Clinical heterogeneity in epidermolytic hyperkeratosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Intermediate filament proteins.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Further evidence for localization of the gene of erythrokeratodermia variabilis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Structure of a gene for the human epidermal 67-kDa keratin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377790

Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10053007

12 December 2020

inferred from PubMed ID database lookup

Ichthyosis bullosa of Siemens--a disease involving keratin 2e

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10053007

12 December 2020

inferred from PubMed ID database lookup

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10053007

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

release_tsnkndeu7nglnndinyz6tn26zy

11 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tsnkndeu7nglnndinyz6tn26zy

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10053007%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference