(Q30990411)

18 August 2017

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis (English)

1 reference

epidermolytic hyperkeratosis

18 August 2017

1 reference

1 reference

E. Fuchs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379726

20 September 2022

R. A. Esteves

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379726

20 September 2022

P. A. Coulombe

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379726

20 September 2022

language of work or name

English

0 references

publication date

1 August 1992

1 reference

full work available at URL

18 August 2017

1 reference

inferred from page(s)

https://europepmc.org/articles/PMC49613

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379726

https://europepmc.org/articles/PMC49613?pdf=render

20 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379726

Proceedings of the National Academy of Sciences of the United States of America

20 September 2022

published in

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

18 August 2017

6906-6910

1 reference

Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Monoclonal antibody analysis of keratin expression in epidermal diseases: a 48- and 56-kdalton keratin as molecular markers for hyperproliferative keratinocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Classification of epidermal keratins according to their immunoreactivity, isoelectric point, and mode of expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Protein complexes of intermediate-sized filaments: melting of cytokeratin complexes in urea reveals different polypeptide separation characteristics.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

A new look into an old problem: keratins as tools to investigate determination, morphogenesis, and differentiation in skin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human cytokeratin 10.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Transgenic mice provide new insights into the role of TGF-alpha during epidermal development and differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Histopathologic concept of epidermolytic hyperkeratosis

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49613

Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses--a model system for heterogeneities in keratinization disturbances

25 November 2018

1 reference

12 December 2020

An electron microscopic study of epidermolytic hyperkeratosis. With a special note on the keratinosome as the "fourth" structural factor in the formation of the horny layer

1 reference

12 December 2020

Changes in keratin gene expression during terminal differentiation of the keratinocyte

1 reference

12 December 2020

Epidermolytic Hyperkeratosis: Ultrastructure and Biochemistry of Skin and Amniotic Fluid Cells from Two Affected Fetuses and a Newborn Infant

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.89.15.6906

1 reference

18 August 2017

0 references

1 reference

PMC publication ID

49613

18 August 2017

1 reference

PMC publication ID

49613