A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy (Q37361311)

19 August 2017

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

1 reference

epidermolysis bullosa simplex with muscular dystrophy

19 August 2017

0 references

1 reference

Chavanas S

1

1 reference

19 August 2017

Pulkkinen L

2

1 reference

19 August 2017

Gache Y

3

1 reference

19 August 2017

Smith FJ

4

1 reference

19 August 2017

McLean WH

5

1 reference

19 August 2017

Uitto J

6

1 reference

19 August 2017

Ortonne JP

7

1 reference

19 August 2017

Meneguzzi G

8

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 November 1996

1 reference

Journal of Clinical Investigation

19 August 2017

1 reference

19 August 2017

98

1 reference

19 August 2017

10

1 reference

19 August 2017

2196-2200

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

The times they are still a'changing: keeping up with the times

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Detection of specific sequences among DNA fragments separated by gel electrophoresis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Occurrence and immunolocalization of plectin in tissues

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Expression of plectin mutant cDNA in cultured cells indicates a role of COOH-terminal domain in intermediate filament association

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Plectin: a high-molecular-weight cytoskeletal polypeptide component that copurifies with intermediate filaments of the vimentin type

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Cytoskeleton-associated plectin: in situ localization, in vitro reconstitution, and binding to immobilized intermediate filament proteins

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507667

Nonsense mutations and diminished mRNA levels

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8941634

12 December 2020

inferred from PubMed ID database lookup

Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy With Recessive Inheritance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8941634

12 December 2020

inferred from PubMed ID database lookup

Congenital muscular dystrophy and epidermolysis bullosa simplex

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8941634

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI119028

1 reference

release_rrd7vjb5nfevbka2o6pjxvuhfq

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rrd7vjb5nfevbka2o6pjxvuhfq

24 November 2022

mapped directly with Wikidata item

1 reference

19 August 2017

1 reference