(Q34088849)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

1 reference

title

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

congenital ichthyosiform erythroderma

10 November 2019

main subject

congenital disorder

0 references

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

N V Whittock

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G H Ashton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

W A Griffiths

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R A Eady

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 August 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

330-335

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

cites work

Defects in the barrier

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Of mice and men: genetic skin diseases of keratin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Structure, function, and dynamics of keratin intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04327.X

10.1046/J.1365-2133.2001.04327.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11531804%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference