Genetic Skin Disorders of Keratin (Q35159068)

6 August 2017

1 reference

title

Genetic skin disorders of keratin (English)

1 reference

6 August 2017

Genetic Skin Disorders of Keratin (English)

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

22 November 2023

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

22 November 2023

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

22 November 2023

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

22 November 2023

author name string

E. Fuchs

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1281858

8 September 2022

language of work or name

English

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publication date

1 December 1992

1 reference

full work available at URL

6 August 2017

https://api.elsevier.com/content/article/PII:S0022202X9290618E?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

https://api.elsevier.com/content/article/PII:S0022202X9290618E?httpAccept=text/plain

22 November 2023

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Journal of Investigative Dermatology

22 November 2023

published in

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6 August 2017

volume

99

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6 August 2017

issue

6

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6 August 2017

page(s)

671-674

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

6 August 2017

cites work

2

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https://api.crossref.org/works/10.1111/1523-1747.EP12613737

The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

22 November 2023

3

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Changes in keratin gene expression during terminal differentiation of the keratinocyte

22 November 2023

4

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

5

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

The molecular biology of intermediate filament proteins

22 November 2023

6

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

8

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

9

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

22 November 2023

10

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain

22 November 2023

11

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis

22 November 2023

12

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Electron microscope studies of dermal-epidermal separation in human skin.

22 November 2023

13

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

14

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne

22 November 2023

15

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

17

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

22 November 2023

18

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

22 November 2023

19

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

20

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

21

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Mapping of epidermolysis bullosa simplex mutation to chromosome 12

22 November 2023

22

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12

22 November 2023

23

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

24

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

25

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)

22 November 2023

28

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

29

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

30

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

31

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

32

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

33

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

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

22 November 2023

34

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

The CpG dinucleotide and human genetic disease

22 November 2023

35

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Of mice and men: genetic skin diseases of keratin

22 November 2023

36

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Prenatal diagnosis of severe dermatologic diseases

22 November 2023

37

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

Cultured Cells for the Treatment of Disease

22 November 2023

38

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12613737

22 November 2023

Identifiers

1 reference

Dimensions Publication ID

6 August 2017

1000848803

0 references

1 reference