Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity (Q24606047)

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Q C Yu

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A S Paller

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G Giudice

4

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R Pearson

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E Fuchs

Journal of Clinical Investigation

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language of work or name

English

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publication date

April 1994

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published in

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volume

93

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page(s)

1533-42

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issue

4

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cites work

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Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

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Structure of a gene for the human epidermal 67-kDa keratin

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The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines

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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

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DNA sequencing with chain-terminating inhibitors

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Rapid and efficient site-specific mutagenesis without phenotypic selection

7 April 2017

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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

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

7 April 2017

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The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins

7 April 2017

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The cDNA sequence of a human epidermal keratin: Divergence of sequence but conservation of structure among intermediate filament proteins

7 April 2017

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The CpG dinucleotide and human genetic disease

7 April 2017

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Polymorphic keratins in human epidermis

7 April 2017

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Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis

7 April 2017

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

7 April 2017

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

7 April 2017

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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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Genetic skin diseases caused by mutations in keratin intermediate filaments

7 April 2017

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A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis

27 September 2017

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

27 September 2017

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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

27 September 2017

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Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

27 September 2017

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Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis

27 September 2017

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Epidermal keratin filaments assembled in vitro have masses-per-unit-length that scale according to average subunit mass: structural basis for homologous packing of subunits in intermediate filaments

27 September 2017

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The fibrillar substructure of keratin filaments unraveled.

27 September 2017

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The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

27 September 2017

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Two distinct classes of keratin genes and their evolutionary significance.

27 September 2017

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Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

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Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M.

27 September 2017

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Cultured Cells for the Treatment of Disease

27 September 2017

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Prenatal diagnosis of severe dermatologic diseases

27 September 2017

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

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Elucidating the early stages of keratin filament assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Of mice and men: genetic skin diseases of keratin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

The molecular biology of intermediate filament proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Characterization of dimer subunits of intermediate filament proteins.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Assembly of amino-terminally deleted desmin in vimentin-free cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Analysis of the cDNA and gene encoding a cytoplasmic intermediate filament (IF) protein from the cephalochordate Branchiostoma lanceolatum; implications for the evolution of the IF protein family.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294170

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

28 November 2018

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12 December 2020

Assembly of carboxy-terminally deleted desmin in vimentin-free cells

1 reference

12 December 2020

Chemical cross-linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher-level complex between protofilaments

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12 December 2020

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

1 reference

12 December 2020

An electron microscopic study of epidermolytic hyperkeratosis. With a special note on the keratinosome as the "fourth" structural factor in the formation of the horny layer

1 reference

12 December 2020

Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses--a model system for heterogeneities in keratinization disturbances

1 reference

12 December 2020

Changes in keratin gene expression during terminal differentiation of the keratinocyte

1 reference

12 December 2020

The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer

1 reference

12 December 2020

Polymorphism of reconstituted human epidermal keratin filaments: determination of their mass-per-length and width by scanning transmission electron microscopy (STEM)

1 reference

12 December 2020