(Q24306254)

ichthyosis bullosa of Siemens

GOA release 2020-03-11

1 reference

D R Roop

0 references

Joseph A Rothnagel

object named as

J A Rothnagel

0 references

Marcel Huber

object named as

M. Huber

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

17 May 2024

H. Traupe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

17 May 2024

S. Wojcik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

17 May 2024

D. Hohl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

17 May 2024

M. R. Pittelkow

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

17 May 2024

H. Saeki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

17 May 2024

Y. Ishibashi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7524919

full work available at URL

17 May 2024

language of work or name

English

0 references

publication date

August 1994

0 references

http://www.nature.com/articles/ng0894-485

1 reference

http://www.nature.com/articles/ng0894-485.pdf

17 May 2024

file format

Portable Document Format

1 reference

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

17 May 2024

0 references

0 references

0 references

485-90

0 references

cites work

1 reference

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

20 April 2017

1 reference

Molecular and cellular biology of intermediate filaments

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

Epidermal differentiation: the bare essentials

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

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 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Ichthyosis bullosa of Siemens: further delineation of the phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Hereditary epidermolytic palmo-plantar keratoderma (Vörner type)--report of a family and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Structure, Function, and Dynamics of Keratin Intermediate Filaments

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Patterns of expression and organization of cytokeratin intermediate filaments.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Epidermal disease: faulty keratin filaments take their toll

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

Suprabasal marker proteins distinguishing keratinizing squamous epithelia: cytokeratin 2 polypeptides of oral masticatory epithelium and epidermis are different

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-485

7 January 2021

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

1 reference