Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
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Inherited epidermolysis bullosaIdentification of the cytolinker plectin as a major early in vivo substrate for caspase 8 during CD95- and tumor necrosis factor receptor-mediated apoptosisNovel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor)Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndromeMultiple functions of the integrin alpha6beta4 in epidermal homeostasis and tumorigenesisThe N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosomeNot just scaffolding: plectin regulates actin dynamics in cultured cellsBinding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament bindingLaminin 5 binds the NC-1 domain of type VII collagenPlectin sidearms mediate interaction of intermediate filaments with microtubules and other components of the cytoskeletonHemidesmosome 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 180Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakinThe localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunitA compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiencyDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathFilaggrin failure - from ichthyosis vulgaris to atopic eczema and beyondPlectin: a cytolinker by designUnique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentinTargeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitectureThe many faces of plectin and plectinopathies: pathology and mechanismsCaspase 8-mediated cleavage of plectin precedes F-actin breakdown in acinar cells during pancreatitisElimination of epiplakin by gene targeting results in acceleration of keratinocyte migration in mice.Periplakin interactions with lens intermediate and beaded filamentskakapo, a gene required for adhesion between and within cell layers in Drosophila, encodes a large cytoskeletal linker protein related to plectin and dystrophinStabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragilityEpiplakin, a novel member of the Plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.The eye lens cytoskeleton.Structure and regulation of the envoplakin gene.Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.Laminins and human disease.Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexMyasthenic syndrome caused by plectinopathyUntethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionA dystroglycan/plectin scaffold mediates mechanical pathway bifurcation in lung epithelial cells.Effect of age and cytoskeletal elements on the indentation-dependent mechanical properties of chondrocytes.Epidermolysis bullosa: directions for future research and new challenges for treatment.Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)Keratins and skin disorders.The rod domain is not essential for the function of plectin in maintaining tissue integrity
P2860
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P2860
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Loss of plectin causes epiderm ...... oning and genomic organization
@ast
Loss of plectin causes epiderm ...... oning and genomic organization
@en
Loss of plectin causes epiderm ...... oning and genomic organization
@nl
type
label
Loss of plectin causes epiderm ...... oning and genomic organization
@ast
Loss of plectin causes epiderm ...... oning and genomic organization
@en
Loss of plectin causes epiderm ...... oning and genomic organization
@nl
prefLabel
Loss of plectin causes epiderm ...... oning and genomic organization
@ast
Loss of plectin causes epiderm ...... oning and genomic organization
@en
Loss of plectin causes epiderm ...... oning and genomic organization
@nl
P2093
P3181
P356
P1433
P1476
Loss of plectin causes epiderm ...... oning and genomic organization
@en
P2093
A M Christiano
D L Hudson
F Bullrich
J A McGrath
J R McMillan
P304
P3181
P356
10.1101/GAD.10.14.1724
P407
P577
1996-07-15T00:00:00Z