Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation (Q36795856)

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scientific article published on 2 October 2015

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English	Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation	scientific article published on 2 October 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

genotype-phenotype correlation

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based on heuristic

inferred from title

epidermolysis bullosa simplex

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Anna Kutkowska-Kazmierczak

4

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PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Katarzyna Niepokój

9

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Agnieszka Rygiel

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

13

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Cezary Kowalewski

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Katarzyna Wertheim-Tysarowska

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object named as

K Wertheim-Tysarowska

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

A Giza

3

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4 June 2020

J Sota

5

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4 June 2020

D Przybylska

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4 June 2020

K Woźniak

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Europe PubMed Central

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4 June 2020

D Śniegórska

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

A Sobczyńska-Tomaszewska

10

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4 June 2020

publication date

2 October 2015

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16 August 2017

Journal of Applied Genetics

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4 June 2020

57

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4 June 2020

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

175-181

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

copyright license

Creative Commons Attribution 4.0 International

2 October 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

How do keratinizing disorders and blistering disorders overlap?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

Inherited epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

29 September 2017

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4830863

5 September 2018

Compound Helical Configurations of Polypeptide Chains: Structure of Proteins of the α-Keratin Type

1 reference

https://api.crossref.org/works/10.1007%2FS13353-015-0310-9

21 January 2018

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/26432462

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S13353-015-0310-9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26432462%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

ResearchGate publication ID

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