(Q28186379)

English

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

scientific article (publication date: May 2001)

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scholarly article

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

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congenital disorder

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epidermolysis bullosa

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based on heuristic

inferred from title

author name string

A Nakano

1

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L Pulkkinen

2

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D Murrell

3

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J Rico

4

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A W Lucky

5

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M Garzon

6

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C A Stevens

7

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S Robertson

8

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E Pfendner

9

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J Uitto

10

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language of work or name

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publication date

May 2001

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Pediatric Research

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49

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5

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618-26

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Mutation analysis and molecular genetics of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Familial pyloric atresia associated with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Ligand binding to integrin alphaIIbbeta3 is dependent on a MIDAS-like domain in the beta3 subunit

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

A genetic analysis of integrin function: Glanzmann thrombasthenia in vitro

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Biology and function of hemidesmosomes

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200105000-00003

21 January 2018

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10.1203/00006450-200105000-00003

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