(Q54368660)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

main subject

epidermolysis bullosa

1 reference

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

Natividad Cuadrado Corrales

2 February 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sara Llames

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lucia Martinez

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

María José Escámez

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

M García

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

J L Santiago

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

A Terrón

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

A Hernández-Martín

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

A Vicente

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

C Fortuny

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

R De Lucas

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

J C López

8

1 reference

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2 February 2020

A Holguín

10

1 reference

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2 February 2020

N Illera

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

B Duarte

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

C Sánchez-Jimeno

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

E García

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

D Castiglia

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

N De Luca

19

1 reference

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2 February 2020

A Torrelo

20

1 reference

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2 February 2020

D Mechan

21

1 reference

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2 February 2020

D Baty

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

G Zambruno

23

1 reference

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2 February 2020

M Del Río

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

1 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

2 February 2020

published in

1 reference

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2 February 2020

volume

165

1 reference

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2 February 2020

issue

3

1 reference

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2 February 2020

page(s)

683-692

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

The National Epidermolysis Bullosa Registry

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

21 January 2018

1 reference

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Epidermolysis bullosa in Northern Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Keratin function in skin epithelia: a broadening palette with surprising shades

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Phenotypes, genotypes and their contribution to understanding keratin function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

21 January 2018

1 reference

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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/10.1111%2FJ.1365-2133.2011.10428.X

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.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/10.1111%2FJ.1365-2133.2011.10428.X

Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

The keratins and their disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Keratins and skin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X

Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10428.X