Inversin
Das Inversin steuert die embryonale Drehung. Mutationen führen zum Situs inversus und zur infantilen Nephronophthise.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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.
|
2. |
O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.
|
3. |
Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?
|
4. |
Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.
|
5. |
Simons M et al. (2005) Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.
|
6. |
Mochizuki T et al. (1998) Cloning of inv, a gene that controls left/right asymmetry and kidney development.
|
7. |
Orphanet article
Orphanet ID 122667
|
8. |
NCBI article
NCBI 27130
|
9. |
OMIM.ORG article
Omim 243305
|
Update: 14. August 2020