(Q34522640)

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Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

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Europe PubMed Central

PubMed publication ID

2 August 2017

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

epidermolysis bullosa simplex

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based on heuristic

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based on heuristic

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author name string

Kana Yasukawa

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Daisuke Sawamura

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

James R McMillan

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Hideki Nakamura

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Hiroshi Shimizu

5

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Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

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publication date

24 April 2002

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Europe PubMed Central

PubMed publication ID

2 August 2017

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

2 August 2017

277

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Europe PubMed Central

PubMed publication ID

2 August 2017

26

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Europe PubMed Central

PubMed publication ID

2 August 2017

23670-23674

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

1 reference

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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

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Molecular and cellular biology of intermediate filaments

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Tissue-specific and differentiation-specific expression of a human K14 keratin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Structural features of keratin intermediate filaments

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Coiled-coil stutter and link segments in keratin and other intermediate filament molecules: a computer modeling study.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Characterization of distinct early assembly units of different intermediate filament proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M200974200

21 January 2018

Identifiers

10.1074/JBC.M200974200

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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