IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa (Q42443360)

31 October 2017

title

IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa (English)

1 reference

junctional epidermolysis bullosa

31 October 2017

main subject

0 references

transposable element

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9271670

13 November 2024

J. E. Kuster

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9271670

13 November 2024

M. H. Guarnieri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9271670

13 November 2024

J. G. Ault

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9271670

13 November 2024

L. Flaherty

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9271670

13 November 2024

P. J. Swiatek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9271670

13 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9271670

13 November 2024

publication date

1 September 1997

1 reference

31 October 2017

September 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9271670

13 November 2024

number of pages

1 reference

full work available at URL

inferred from page(s)

http://link.springer.com/content/pdf/10.1007/s003359900535.pdf

file format

Portable Document Format

1 reference

DOI

https://api.crossref.org/works/10.1007/S003359900535

http://link.springer.com/article/10.1007/s003359900535/fulltext.html

13 November 2024

1 reference

https://api.crossref.org/works/10.1007/S003359900535

http://link.springer.com/content/pdf/10.1007/s003359900535

13 November 2024

1 reference

DOI

https://api.crossref.org/works/10.1007/S003359900535

13 November 2024

1 reference

31 October 2017

1 reference

31 October 2017

1 reference

31 October 2017

page(s)

673-681

1 reference

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

31 October 2017

cites work

1 reference

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Hemidesmosomes: roles in adhesion, signaling and human diseases

21 January 2018

1 reference

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Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia

21 January 2018

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A new nomenclature for the laminins

21 January 2018

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Epiligrin, a new cell adhesion ligand for integrin alpha 3 beta 1 in epithelial basement membranes

21 January 2018

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Abnormal expression of hemidesmosome-like structures by junctional epidermolysis bullosa keratinocytes in vitro

21 January 2018

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Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival

21 January 2018

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 January 2018

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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

21 January 2018

1 reference

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Chlorambucil-induced mutations in mice recovered in homozygotes

21 January 2018

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Desmosomes and hemidesmosomes

21 January 2018

1 reference

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Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice.

21 January 2018

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Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa

21 January 2018

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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

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Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatellites

21 January 2018

1 reference

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The dermal-epidermal junction of human skin contains a novel laminin variant

21 January 2018

1 reference

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The assembly of laminin-5 subunits

21 January 2018

1 reference

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A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect

21 January 2018

1 reference

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The alpha 6 beta 4 integrin is a receptor for both laminin and kalinin

21 January 2018

1 reference

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A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

21 January 2018

1 reference

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The use of lead citrate at high pH as an electron-opaque stain in electron microscopy

21 January 2018

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Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments

21 January 2018

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Making sense of nonsense in yeast

21 January 2018

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Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes

21 January 2018

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Macromolecular organization of basement membranes

21 January 2018

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Supramolecular assembly of basement membranes

21 January 2018

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Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice

21 January 2018

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Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

21 January 2018

1 reference

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Anchorage mediated by integrin alpha6beta4 to laminin 5 (epiligrin) regulates tyrosine phosphorylation of a membrane-associated 80-kD protein

21 January 2018

1 reference

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Nucleotide sequence of the intracisternal A-particle genome inserted 5' to the interleukin-3 gene of the leukemia cell line WEHI-3B.

21 January 2018

1 reference

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Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa

21 January 2018

1 reference

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Hereditary epidermolysis bullosa

21 January 2018

1 reference

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Ultrastructural studies in epidermolysis bullosa hereditaria. IV. Recessive dystrophic types with junctional blistering. (Infantile or Herlitz-Pearson type and adult type)

21 January 2018

1 reference

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Simple screening procedure to detect gene targeting events in embryonic stem cells

21 January 2018

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Localization of laminin-5 in the epidermal basement membrane

21 January 2018

1 reference

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Studies on the pathogenesis of epidermolysis bullosa.

21 January 2018

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Separation of Noncutaneous Epithelia in a Fetus Diagnosed In Utero with Junctional Epidermolysis Bullosa

21 January 2018

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Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis

21 January 2018

1 reference

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Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role

21 January 2018

1 reference

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Basement membrane proteins kalinin and nicein are structurally and immunologically identical

21 January 2018

1 reference

12 December 2020

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

1 reference

12 December 2020

The intracisternal A-particle gene family: structure and functional aspects

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12 December 2020

Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.

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12 December 2020

Structure and function of laminin: anatomy of a multidomain glycoprotein

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12 December 2020

Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin beta 4 that inhibit hemidesmosome formation

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12 December 2020

Laminin-5 and hemidesmosomes: role of the alpha 3 chain subunit in hemidesmosome stability and assembly

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12 December 2020

Formation of hemidesmosomes in cells of a transformed murine mammary tumor cell line and mechanisms involved in adherence of these cells to laminin and kalinin.

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12 December 2020

The matrix secreted by 804G cells contains laminin-related components that participate in hemidesmosome assembly in vitro.

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12 December 2020

Ultrastructural findings in epidermolysis bullosa

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12 December 2020

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

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12 December 2020

Mouse kalinin B1 (laminin beta 3 chain): cloning and tissue distribution

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12 December 2020

The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor

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12 December 2020

Hemidesmosome ontogeny in digit skin of the human fetus

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12 December 2020

Nucleotide sequence of a complete mouse intracisternal A-particle genome: relationship to known aspects of particle assembly and function

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12 December 2020

Identifiers

DOI

1 reference

Dimensions Publication ID

31 October 2017

1001103609

0 references

1 reference