Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Intraflagelläres Transportproteins 74

Das IFT74-Gen kodiert ein intraflaggeläres Trasnportprotein und ist für das autosomal rezessive Bardet-Biedl-Syndroms 20 verantwortlich.

Diagnostik:

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

Krankheiten:

Bardet-Biedl-Syndrom 20
IFT74

Referenzen:

1.

Bell SE et. al. (2001) Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.

[^]
2.

Ezratty EJ et. al. (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development.

[^]
3.

Bhogaraju S et. al. (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.

[^]
4.

Lindstrand A et. al. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

[^]

 

 
Ihre Nachricht: