Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
about
Mutations in the integrin alpha7 gene cause congenital myopathyFamilial syndromic esophageal atresia maps to 2p23-p24.Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)Hemidesmosome 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 180Platelet integrin α6β1 controls lung metastasis through direct binding to cancer cell-derived ADAM9.Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlationsE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaTargeting leukocyte integrins in human diseasesMolecular pathology of the cutaneous basement membrane zone.Adhesion receptors in health and disease.Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion.Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.Different phenotypes in human prostate cancer: alpha6 or alpha3 integrin in cell-extracellular adhesion sitesIntegrin-dependent pathologies.Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.α6β4 integrin, a master regulator of expression of integrins in human keratinocytes.Gene therapy in combination with tissue engineering to treat epidermolysis bullosa.Diseases of epidermal keratins and their linker proteinsEpidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.α6-Integrin is required for the adhesion and vasculogenic potential of hemangioma stem cellsEpidermolysis bullosa with pyloric atresia.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Molecular and genetic basis of inherited nephrotic syndromeEpidermal cell junctions and their regulation by p63 in health and disease.Reduced fibulin-2 contributes to loss of basement membrane integrity and skin blistering in mice lacking integrin α3β1 in the epidermis.BP180 gene delivery in junctional epidermolysis bullosa.Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.The role of laminins in basement membrane function.Glycated collagen and altered glucose increase endothelial cell adhesion strength.Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.
P2860
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P2860
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@en
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@nl
type
label
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@en
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@nl
prefLabel
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@en
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@nl
P2093
P2860
P356
P1476
Homozygous alpha6 integrin mut ...... h congenital duodenal atresia.
@en
P2093
P2860
P304
P356
10.1093/HMG/6.5.669
P577
1997-05-01T00:00:00Z