Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
about
Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomesMultiple functions of the integrin alpha6beta4 in epidermal homeostasis and tumorigenesisA post-classical theory of enamel biomineralization… and why we need oneEpidermolysis bullosa: directions for future research and new challenges for treatment.Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.Phosphorylation of threonine 1736 in the C-terminal tail of integrin β4 contributes to hemidesmosome disassembly.Endothelial β4 integrin is predominantly expressed in arterioles, where it promotes vascular remodeling in the hypoxic brainEpidermolysis bullosa with pyloric atresia.Do cell junction protein mutations cause an airway phenotype in mice or humans?A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Specificity of binding of the plectin actin-binding domain to beta4 integrin.Modeling and experimental validation of the binary complex of the plectin actin-binding domain and the first pair of fibronectin type III (FNIII) domains of the beta4 integrin.Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes.Serine phosphorylation of the integrin beta4 subunit is necessary for epidermal growth factor receptor induced hemidesmosome disruption.Integrin α6β4 in colorectal cancer.Endothelial α6β4 integrin protects during experimental autoimmune encephalomyelitis-induced neuroinflammation by maintaining vascular integrity and tight junction protein expression.Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.Granzyme B is elevated in autoimmune blistering diseases and cleaves key anchoring proteins of the dermal-epidermal junction.
P2860
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P2860
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@ast
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@en
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@nl
type
label
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@ast
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@en
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@nl
prefLabel
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@ast
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@en
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@nl
P2093
P2860
P1433
P1476
Epidermolysis bullosa with con ...... enotype/phenotype correlations
@en
P2093
C A Stevens
E Pfendner
L Pulkkinen
S Robertson
P2860
P304
P356
10.1203/00006450-200105000-00003
P407
P577
2001-05-01T00:00:00Z
P5875
P6179
1024452576