(Q24673167)

2

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J J DiGiovanna

3

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P M Steinert

4

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L Marekov

5

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J G Compton

6

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S J Bale

American Journal of Human Genetics

7

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language of work or name

English

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publication date

February 1994

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published in

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volume

54

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issue

2

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page(s)

179-90

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cites work

The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences

1 reference

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

7 April 2017

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Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops

7 April 2017

1 reference

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Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

7 April 2017

1 reference

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

7 April 2017

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

7 April 2017

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

28 September 2017

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

28 September 2017

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

28 September 2017

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

28 September 2017

1 reference

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

28 September 2017

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Molecular genetics of epidermolysis bullosa

28 September 2017

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

28 September 2017

1 reference

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

28 September 2017

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The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 Subdomain

28 September 2017

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Localization of basement membrane components after dermal-epidermal junction separation

28 September 2017

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Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

30 May 2018

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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

30 May 2018

1 reference

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30 May 2018

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Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene

30 May 2018

1 reference

12 December 2020

PCR amplification of specific alleles (PASA) is a general method for rapidly detecting known single-base changes

1 reference

12 December 2020

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

1 reference

12 December 2020

The conserved H1 domain of the type II keratin 1 chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin 1/keratin 10 intermediate filaments at the two- to four-molecule level of structure

1 reference

12 December 2020

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

1 reference

12 December 2020