Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)
about
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaA homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresiaHuman amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachmentPremature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionThe short arm of the laminin gamma2 chain plays a pivotal role in the incorporation of laminin 5 into the extracellular matrix and in cell adhesionPolymerized laminin-332 matrix supports rapid and tight adhesion of keratinocytes, suppressing cell migrationIntegrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresiaStructural requirement of carboxyl-terminal globular domains of laminin alpha 3 chain for promotion of rapid cell adhesion and migration by laminin-5A unique sequence of the laminin alpha 3 G domain binds to heparin and promotes cell adhesion through syndecan-2 and -4Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separationStructural requirement for cell adhesion to kalinin (laminin-5)Primary structure and expression of a novel human laminin alpha 4 chainPrimary structure, developmental expression, and immunolocalization of the murine laminin alpha4 chainSpironolactone ameliorates podocytic adhesive capacity via restoring integrin alpha 3 expression in streptozotocin-induced diabetic ratsThe renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survivalBisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.Gene therapy and dermatology: more than just skin deep.Paraneoplastic cicatricial pemphigoid.Binding of USF to a non-canonical E-box following stress results in a cell-specific derepression of the lama3 gene.Defining the role of laminin-332 in carcinoma.Laminins: structure and genetic regulation.Transcriptional regulation of laminin gene expression.Cutaneous gene transfer and therapy: the present and the future.Low nidogen affinity of laminin-5 can be attributed to two serine residues in EGF-like motif gamma 2III4.The genetics of human skin disease.Keratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice.Laminin-5 beta3A expression in LNCaP human prostate carcinoma cells increases cell migration and tumorigenicity.Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.Differential expression of laminin 5 (alpha 3 beta 3 gamma 2) by human malignant and normal prostate.In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa.Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.Uniparental disomy.alpha3beta1 Integrin is required for normal development of the epidermal basement membrane.wing blister, a new Drosophila laminin alpha chain required for cell adhesion and migration during embryonic and imaginal developmentImproved epidermal barrier formation in human skin models by chitosan modulated dermal matrices.Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
P2860
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P2860
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)
description
1994 nî lūn-bûn
@nan
1994 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի մարտին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@ast
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en-gb
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@nl
type
label
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@ast
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en-gb
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@nl
prefLabel
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@ast
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en-gb
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@nl
P2093
P356
P1433
P1476
Herlitz's junctional epidermol ...... of nicein/kalinin (LAMININ-5)
@en
P2093
A M Christiano
E H Epstein
J P Ortonne
K Tryggvason
L Pulkkinen
M F Galliano
P2888
P304
P356
10.1038/NG0394-299
P407
P577
1994-03-01T00:00:00Z
P5875
P6179
1017898438