Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function (Q28285508)

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F J Smith

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M Boxer

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M J Tidman

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H Navsaria

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I M Leigh

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E B Lane

https://scigraph.springernature.com/pub.10.1038/ng1193-294

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language of work or name

English

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publication date

November 1993

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published in

Nature Genetics

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volume

5

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issue

3

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page(s)

294-300

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exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038/NG1193-294

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

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%2FNG1193-294

In situ hybridization to the Crithidia fasciculata kinetoplast reveals two antipodal sites involved in kinetoplast DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

Sorting out IF networks: consequences of domain swapping on IF recognition and assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

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%2FNG1193-294

Expression of chicken lamin B2 in Escherichia coli: characterization of its structure, assembly, and molecular interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

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%2FNG1193-294

7 January 2021

Variation and frequency of cytokeratin polypeptide patterns in human squamous non-keratinizing epithelium

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

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%2FNG1193-294

7 January 2021

Epidermolysis bullosa simplex. A new histologic subgroup

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Molecular genetics of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

AvaII RFLP of human keratin 10 (KRT-10) detected by PCR.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Polymorphic keratins in human epidermis

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Intermediate filaments: conformity and diversity of expression and structure

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Intermediate filament formation by a yeast protein essential for organelle inheritance.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

PCR detection of five restriction site dimorphisms at the type I collagen loci COL1A1 and COL1A2.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021

Patterns of expression of the p53 tumour suppressor in human breast tissues and tumours in situ and in vitro

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-294

7 January 2021