A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis (Q24293187)

epidermolytic hyperkeratosis

GOA release 2020-03-11

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J. J. DiGiovanna

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1381288

20 September 2022

C. C. Chipev

1 reference

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20 September 2022

B. P. Korge

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20 September 2022

N. Markova

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1381288

20 September 2022

S. J. Bale

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1381288

20 September 2022

J. G. Compton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1381288

20 September 2022

P. M. Steinert

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1381288

Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE)

20 September 2022

language of work or name

English

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publication date

4 September 1992

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821-8

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cites work

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7 January 2021

Intermediate filament reorganization during mitosis is mediated by p34cdc2 phosphorylation of vimentin

1 reference

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7 January 2021

Intermediate filament dynamics

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Of mice and men: genetic skin diseases of keratin

1 reference

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7 January 2021

Glycine loops in proteins: their occurence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins

1 reference

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7 January 2021

Intermediate filament structure

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

Organization of coiled-coil molecules in native mouse keratin 1/keratin 10 intermediate filaments: Evidence for alternating rows of antiparallel in-register and antiparallel staggered molecules

1 reference

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7 January 2021

Analysis of the mechanism of assembly of mouse keratin 1/keratin 10 intermediate filaments in vitro suggests that intermediate filaments are built from multiple oligomeric units rather than a unique tetrameric building block

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

Self-assembly of bovine epidermal keratin filaments in vitro

1 reference

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7 January 2021

Solid-state NMR studies of the dynamics and structure of mouse keratin intermediate filaments

1 reference

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7 January 2021

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

The polypeptide composition of bovine epidermal alpha-keratin

1 reference

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7 January 2021

Pair formation and promiscuity of cytokeratins: formation in vitro of heterotypic complexes and intermediate-sized filaments by homologous and heterologous recombinations of purified polypeptides.

1 reference

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7 January 2021

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

The fibrillar substructure of keratin filaments unraveled.

1 reference

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7 January 2021

A comprehensive set of sequence analysis programs for the VAX

1 reference

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7 January 2021

Avoiding strand reassociation in direct sequencing of double-stranded PCR products with thermolabile polymerases

1 reference

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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/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

Molecular and cellular biology of intermediate filaments

1 reference

https://api.crossref.org/works/10.1016%2F0092-8674%2892%2990315-4

7 January 2021

10.1016/0092-8674(92)90315-4

Identifiers

DOI

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