(Q34522640)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

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

2 August 2017

epidermolysis bullosa simplex

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Kana Yasukawa

1

1 reference

Europe PubMed Central

2 August 2017

Daisuke Sawamura

2

1 reference

Europe PubMed Central

2 August 2017

James R McMillan

3

1 reference

Europe PubMed Central

2 August 2017

Hideki Nakamura

4

1 reference

Europe PubMed Central

2 August 2017

Hiroshi Shimizu

5

1 reference

Europe PubMed Central

2 August 2017

language of work or name

0 references

publication date

24 April 2002

1 reference

Europe PubMed Central

2 August 2017

Journal of Biological Chemistry

1 reference

Europe PubMed Central

2 August 2017

277

1 reference

Europe PubMed Central

2 August 2017

26

1 reference

Europe PubMed Central

2 August 2017

23670-23674

1 reference

Europe PubMed Central

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

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

21 January 2018

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

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34522640&oldid=2042786484"