Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Inversin

Das Inversin steuert die embryonale Drehung. Mutationen führen zum Situs inversus und zur infantilen Nephronophthise.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 30
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Nephronophthise 2
INVS

Referenzen:

1.

Otto EA et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

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2.

Simons M et al. (2005) Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.

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3.

O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.

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4.

Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

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5.

Mochizuki T et al. (1998) Cloning of inv, a gene that controls left/right asymmetry and kidney development.

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6.

Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

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