Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. (Q47888956)

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4 March 2020

title

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia (English)

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main subject

epidermolysis bullosa

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Ángeles Mencía

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Marta García

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Eva García

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4 March 2020

Alexandra Charlesworth

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Raúl de Lucas

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Asunción Vicente

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María José Trujillo-Tiebas

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Pablo Coto

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Marta Costa

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Ángel Vera

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Arantxa López-Pestaña

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José Luis Jorcano

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Claudio J Conti

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Marcela del Río Nechaevsky

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publication date

13 February 2016

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published in

Experimental Dermatology

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volume

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issue

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page(s)

269-274

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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

4 March 2020

cites work

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Epidermolysis bullosa with pyloric atresia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations

21 January 2018

1 reference

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)

21 January 2018

1 reference

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

21 January 2018

1 reference

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).

21 January 2018

1 reference

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

21 January 2018

1 reference

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

1 reference

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

21 January 2018

1 reference

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex

21 January 2018

1 reference

Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin.

21 January 2018

1 reference

Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes

21 January 2018

1 reference

Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry

21 January 2018

1 reference

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

21 January 2018

1 reference

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

21 January 2018

1 reference

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

21 January 2018

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

21 January 2018

1 reference

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

21 January 2018

1 reference

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

21 January 2018

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Crystal structure of the A domain from complement factor B reveals an integrin-like open conformation

21 January 2018

1 reference

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function

21 January 2018

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Therapies for inherited skin fragility disorders.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EXD.12938

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4 March 2020

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