(Q42485419)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730767%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730767%20AND%20SRC:MED&resulttype=core&format=json

epidermolysis bullosa simplex

5 November 2019

main subject

1 reference

1

1 reference

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5 November 2019

author name string

H M Horn

2

1 reference

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5 November 2019

S G Keohane

3

1 reference

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5 November 2019

N Hepburn

4

1 reference

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5 November 2019

A I Kerr

5

1 reference

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5 November 2019

D J Atherton

6

1 reference

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5 November 2019

M J Tidman

7

1 reference

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5 November 2019

E B Lane

8

1 reference

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5 November 2019

language of work or name

English

0 references

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730767%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

5 November 2019

published in

1 reference

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5 November 2019

volume

142

1 reference

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5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

315-320

1 reference

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Human keratin diseases: hereditary fragility of specific epithelial tissues

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Ultrastructural findings in epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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/10.1046%2FJ.1365-2133.2000.03304.X

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Generalized gravis junctional epidermolysis bullosa: case report, laboratory evaluation, and review of recent advances

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Junctional epidermolysis bullosa of the larynx. Report of a case and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Severe infantile epidermolysis bullosa simplex. Dowling-Meara type

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Aplasia cutis congenita: a rare cause of elevated alpha-fetoprotein levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Maternal serum and amniotic fluid concentrations of alphafetoprotein in epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Intermediate filaments in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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/10.1046%2FJ.1365-2133.2000.03304.X

Peptides from the Conserved Ends of the Rod Domain of Desmin Disassemble Intermediate Filaments and Reveal Unexpected Structural Features: A Circular Dichroism, Fourier Transform Infrared, and Electron Microscopic Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Junctional epidermolysis bullosa with urethral stricture

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Role of Elevated Alpha-Fetoprotein in Prenatal Diagnosis of Junctional Epidermolysis Bullosa and Pyloric Atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2000.03304.X

10.1046/J.1365-2133.2000.03304.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10730767%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference