Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

NIMA-Kinas 8

Das NEK8-Gen kodiert eine Serin/Threonin-Protein-Kinase, welche bei der Regulation des Zellzyklus eine Rolle spielt. Mutationen führen zur autosomal rezessiven Nephronopthiese 9.

Diagnostik:

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

Krankheiten:

Nephronophthise 9
NEK8

Referenzen:

1.

Liu S et al. (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.

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2.

Bowers AJ et al. (2004) Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.

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3.

Valkova N et al. (2005) Nek8 mutation causes overexpression of galectin-1, sorcin, and vimentin and accumulation of the major urinary protein in renal cysts of jck mice.

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4.

Otto EA et al. (2008) NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.

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5.

Sohara E et al. (2008) Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.

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6.

Habbig S et al. (2012) The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.

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7.

Manning DK et al. (2013) Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.

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8.

Frank V et al. (2013) Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

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9.

Hoff S et. al. (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

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