Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Integrin beta-4

Das ITGB4-Gen kodiert ein Membran-Protein, welches wie alle Integrine in die Zelladhäsion und Signaltransduktion involviert ist. Mutationen rufen die autosomal dominante oder rezessive Erkrankung Epidermolysis bullosa hervor.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Epidermolysis bullosa
ITGB4

Referenzen:

1.

Hogervorst F et. al. (1991) Molecular cloning of the human alpha 6 integrin subunit. Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha 6 and beta 4 genes.

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2.

Suzuki S et. al. (1990) Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells.

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3.

Hogervorst F et. al. (1990) Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain.

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4.

Carmi R et. al. (1982) Aplasia cutis congenita in two sibs discordant for pyloric atresia.

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5.

Vidal F et. al. (1995) Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

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6.

Niessen CM et. al. (1997) Integrin alpha 6 beta 4 forms a complex with the cytoskeletal protein HD1 and induces its redistribution in transfected COS-7 cells.

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7.

Shaw LM et. al. (1997) Activation of phosphoinositide 3-OH kinase by the alpha6beta4 integrin promotes carcinoma invasion.

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8.

Pulkkinen L et. al. (1998) 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.

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9.

Nievers MG et. al. (1998) Ligand-independent role of the beta 4 integrin subunit in the formation of hemidesmosomes.

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10.

Murgia C et. al. (1998) Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain.

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11.

Maman E et. al. (1998) Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.

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12.

Pulkkinen L et. al. (1998) Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

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13.

Mellerio JE et. al. (1998) Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

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14.

Chavanas S et. al. (1999) Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

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15.

Geerts D et. al. (1999) Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding.

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16.

Inoue M et. al. (2000) A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

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17.

Nakano A et. al. (2001) Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

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18.

Koster J et. al. (2001) Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin.

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19.

Jonkman MF et. al. (2002) Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

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20.

Dajee M et. al. (2003) NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia.

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21.

Guo W et. al. (2006) Beta 4 integrin amplifies ErbB2 signaling to promote mammary tumorigenesis.

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22.

Birnbaum RY et. al. (2008) Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

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23.

Yang L et. al. (2008) Unbiased screening for transcriptional targets of ZKSCAN3 identifies integrin beta 4 and vascular endothelial growth factor as downstream targets.

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