(Q47284826)

13 January 2018

title

Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia (English)

1 reference

13 January 2018

junctional epidermolysis bullosa with pyloric atresia

main subject

0 references

author name string

Iacovacci S

1

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13 January 2018

Cicuzza S

2

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13 January 2018

Odorisio T

3

1 reference

13 January 2018

Silvestri E

4

1 reference

13 January 2018

Kayserili H

5

1 reference

13 January 2018

Zambruno G

6

1 reference

13 January 2018

Puddu P

7

1 reference

13 January 2018

D'Alessio M

8

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13 January 2018

publication date

1 October 2003

1 reference

13 January 2018

published in

Experimental Dermatology

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13 January 2018

volume

12

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13 January 2018

issue

5

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13 January 2018

page(s)

716-720

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13 January 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Structure and function of hemidesmosomes: more than simple adhesion complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Mutation analysis and molecular genetics of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Genomic organization of the human integrin beta4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Cloning and characterization of the human beta4-integrin gene promoter and enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

Transforming growth factor-beta 1 modulates beta 1 and beta 5 integrin receptors and induces the de novo expression of the alpha v beta 6 heterodimer in normal human keratinocytes: implications for wound healing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

7 January 2021

Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

7 January 2021

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

7 January 2021

Congenital pyloric atresia and junctional epidermolysis bullosa: A report of long-term survival and a review of the literature

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

7 January 2021

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2003.00052.X

7 January 2021

10.1034/J.1600-0625.2003.00052.X

Identifiers

DOI

1 reference

13 January 2018

1 reference

13 January 2018