Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy (Q24562137)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8636409%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

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

1 reference

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epidermolysis bullosa simplex with muscular dystrophy

16 October 2019

main subject

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author

Yannick Gache

1

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16 October 2019

Jean-Philippe Lacour

3

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16 October 2019

Guerrino Meneguzzi

6

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16 October 2019

author name string

Chavanas S

2

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16 October 2019

Wiche G

4

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16 October 2019

Owaribe K

5

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16 October 2019

Ortonne JP

7

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16 October 2019

language of work or name

English

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publication date

1 May 1996

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Journal of Clinical Investigation

16 October 2019

published in

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16 October 2019

volume

97

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16 October 2019

issue

10

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16 October 2019

page(s)

2289-2298

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

16 October 2019

cites work

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

24 March 2017

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Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex

24 March 2017

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

24 March 2017

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Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains

24 March 2017

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24 March 2017

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24 March 2017

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

24 March 2017

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

7 April 2017

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A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

7 April 2017

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The beta 4 subunit cytoplasmic domain mediates the interaction of alpha 6 beta 4 integrin with the cytoskeleton of hemidesmosomes

27 September 2017

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

27 September 2017

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Hemidesmosomes: extracellular matrix/intermediate filament connectors

27 September 2017

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

27 September 2017

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Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

27 September 2017

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Immunocytochemistry of the muscle cell cytoskeleton

27 September 2017

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Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

27 September 2017

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Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases

27 September 2017

1 reference

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Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes

27 September 2017

1 reference

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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.

27 September 2017

1 reference

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Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion

27 September 2017

1 reference

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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

27 September 2017

1 reference

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Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells

27 September 2017

1 reference

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The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

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Redistribution of intermediate filament subunits during skeletal myogenesis and maturation in vitro

27 September 2017

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

27 September 2017

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Occurrence and immunolocalization of plectin in tissues

27 September 2017

1 reference

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

27 September 2017

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

30 May 2018

1 reference

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Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

30 May 2018

1 reference

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A 230-kD basic protein is the major bullous pemphigoid antigen

30 May 2018

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The alpha 6 beta 1 (VLA-6) and alpha 6 beta 4 protein complexes: tissue distribution and biochemical properties

30 May 2018

1 reference

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Production of Rabbit Antibodies Against Carboxy-Terminal Epitopes Encoded by Bullous Pemphigoid cDNA

30 May 2018

1 reference

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Vimentin and desmin in maturing skeletal muscle and developmental myopathies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507309

The control of polarized integrin topography and the organization of adhesion-related cytoskeleton in normal human keratinocytes depend upon number of passages in culture and ionic environment

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507309

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507309

A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody

28 November 2018

1 reference

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Enzymatic cross-linking of involucrin and other proteins by keratinocyte particulates in vitro

28 November 2018

1 reference

12 December 2020

Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy With Recessive Inheritance

1 reference

12 December 2020

Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa

1 reference

12 December 2020

HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome

1 reference

12 December 2020

Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI118671

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8636409%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8636409%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8636409

2 references