(Q28298121)

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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

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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 (English)

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epidermolysis bullosa simplex

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W Dong

1

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M Ryynänen

2

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J Uitto

3

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language of work or name

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publication date

1993

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2

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2

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94-102

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The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

21 January 2018

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

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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Elucidating the early stages of keratin filament assembly

1 reference

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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

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of epidermolysis bullosa

1 reference

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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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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Of mice and men: genetic skin diseases of keratin

1 reference

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7 January 2021

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Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin

1 reference

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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

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

1 reference

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7 January 2021

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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

1 reference

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7 January 2021

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Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene

1 reference

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based on heuristic

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GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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Deficiency of galactosylhydroxylysyl glucosyltransferase, an enzyme of collagen synthesis, in a family with dominant epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

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Symposium on epidermolysis bullosa: molecular biology and pathology of the cutaneous basement membrane zone. Jefferson Medical College, Philadelphia, Pennsylvania, October 4 and 5, 1991

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

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Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020206

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

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10.1002/HUMU.1380020206

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