Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Tight-Junction-Protein ZO-1

Das TJP1-Gen kodiert ein Tight-Junction-Protein. Im Tierexperiment sind die homozygoten knock-out Mäuse lethal. Bei Menschen gibt es noch keine Erkrankung, die mit diesem gen assoziiert werden kann.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

Willott E et al. (1992) Localization and differential expression of two isoforms of the tight junction protein ZO-1.

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2.

Balda MS et al. (1993) Two classes of tight junctions are revealed by ZO-1 isoforms.

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3.

Willott E et al. (1993) The tight junction protein ZO-1 is homologous to the Drosophila discs-large tumor suppressor protein of septate junctions.

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4.

Mohandas TK et al. (1995) Localization of the tight junction protein gene TJP1 to human chromosome 15q13, distal to the Prader-Willi/Angelman region, and to mouse chromosome 7.

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5.

Itoh M et al. (1999) Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins.

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6.

D'Atri F et al. (2002) Evidence for a functional interaction between cingulin and ZO-1 in cultured cells.

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7.

Amieva MR et al. (2003) Disruption of the epithelial apical-junctional complex by Helicobacter pylori CagA.

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8.

Nielsen PA et al. (2003) Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).

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9.

Tang Y et al. (2008) Effect of alcohol on miR-212 expression in intestinal epithelial cells and its potential role in alcoholic liver disease.

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10.

Katsuno T et al. (2008) Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells.

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11.

Huo L et al. (2011) Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration.

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12.

NCBI article

NCBI 7082 external link
13.

OMIM.ORG article

Omim 601009 external link
Update: 14. August 2020
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