(Q35789863)

10 August 2017

title

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

1 reference

epidermolysis bullosa simplex

10 August 2017

main subject

1 reference

Hiroyuki Nakamura

1

1 reference

10 August 2017

Daisuke Sawamura

2

1 reference

10 August 2017

Maki Goto

3

1 reference

10 August 2017

Hideki Nakamura

4

1 reference

10 August 2017

James R McMillan

5

1 reference

10 August 2017

Susam Park

6

1 reference

10 August 2017

Sumio Kono

7

1 reference

10 August 2017

Shiro Hasegawa

8

1 reference

10 August 2017

Son'e Paku

9

1 reference

10 August 2017

Tomohiko Nakamura

10

1 reference

10 August 2017

Yoshihumi Ogiso

11

1 reference

10 August 2017

Hiroshi Shimizu

12

1 reference

10 August 2017

publication date

1 February 2005

1 reference

The Journal of Molecular Diagnostics

10 August 2017

published in

1 reference

10 August 2017

volume

7

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10 August 2017

issue

1

1 reference

10 August 2017

page(s)

28-35

1 reference

Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Identification of the hemidesmosomal 500 kDa protein (HD1) as plectin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Mutation analysis and molecular genetics of epidermolysis bullosa

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Structure and function of hemidesmosomes: more than simple adhesion complexes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Role of plectin in cytoskeleton organization and dynamics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

A panel of monoclonal antibodies to rat plectin: distinction by epitope mapping and immunoreactivity with different tissues and cell lines.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Occurrence and immunolocalization of plectin in tissues

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Immunochemical characterization of three components of the hemidesmosome and their expression in cultured epithelial cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867514

Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities

25 September 2018

1 reference

12 December 2020

Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex

1 reference

12 December 2020

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

12 December 2020

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease

1 reference

12 December 2020

Epidermolysis bullosa and pyloric atresia

1 reference

12 December 2020

10.1016/S1525-1578(10)60005-0

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference