Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Integrin alpha-3

Das ITGA3-Gen kodiert eine alpha-Kette des Integrins. Integrine sind für die Verankerung extrazellulärer Matrixproteine verantwortlich mutationen führen zu einer autosomal rezessiven Erkrankung mit interstitieller Lungenbeteiligung, kongenitalem nephrotischem Syndrom und Epidermiolysis bullosa.

Diagnostik:

Clinic 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:

Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
ITGA3

Referenzen:

1.

Takada Y et. al. (1991) Molecular cloning and expression of the cDNA for alpha 3 subunit of human alpha 3 beta 1 (VLA-3), an integrin receptor for fibronectin, laminin, and collagen.

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2.

Tsuji T et. al. (1991) Identification of human galactoprotein b3, an oncogenic transformation-induced membrane glycoprotein, as VLA-3 alpha subunit: the primary structure of human integrin alpha 3.

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3.

DiPersio CM et. al. (1997) alpha3beta1 Integrin is required for normal development of the epidermal basement membrane.

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4.

Jones SD et. al. (1998) Genomic organization of the human alpha 3 integrin subunit gene.

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5.

Dulabon L et. al. (2000) Reelin binds alpha3beta1 integrin and inhibits neuronal migration.

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6.

Akula SM et. al. (2002) Integrin alpha3beta1 (CD 49c/29) is a cellular receptor for Kaposi's sarcoma-associated herpesvirus (KSHV/HHV-8) entry into the target cells.

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7.

Sanada K et. al. (2004) Disabled-1-regulated adhesion of migrating neurons to radial glial fiber contributes to neuronal positioning during early corticogenesis.

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8.

Has C et. al. (2012) Integrin α3 mutations with kidney, lung, and skin disease.

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9.

Yalcin EG et. al. (2015) Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

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Update: 23. März 2018