Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SPRY2-Gen

Das SPRY2-Gen kodiert ein Protein, dass in verschiedene Transduktionsprozesse eingebunden ist. Mutationen führen zur autosomal dominanten IgA-Nephropathie vom Typ 3.

Diagnostik:

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

Krankheiten:

IgA-Nephropathie Typ 3
SPRY2

Referenzen:

1.

Hacohen N et. al. (1998) sprouty encodes a novel antagonist of FGF signaling that patterns apical branching of the Drosophila airways.

[^]
2.

Lim J et. al. (2000) Sprouty proteins are targeted to membrane ruffles upon growth factor receptor tyrosine kinase activation. Identification of a novel translocation domain.

[^]
3.

Gross I et. al. (2001) Mammalian sprouty proteins inhibit cell growth and differentiation by preventing ras activation.

[^]
4.

Yusoff P et. al. (2002) Sprouty2 inhibits the Ras/MAP kinase pathway by inhibiting the activation of Raf.

[^]
5.

Egan JE et. al. (2002) The bimodal regulation of epidermal growth factor signaling by human Sprouty proteins.

[^]
6.

Lim J et. al. (2002) The cysteine-rich sprouty translocation domain targets mitogen-activated protein kinase inhibitory proteins to phosphatidylinositol 4,5-bisphosphate in plasma membranes.

[^]
7.

Hanafusa H et. al. (2002) Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway.

[^]
8.

Ding W et. al. (2003) Functional analysis of the human Sprouty2 gene promoter.

[^]
9.

Shim K et. al. (2005) Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling.

[^]
10.

Taketomi T et. al. (2005) Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia.

[^]
11.

Klein OD et. al. (2006) Sprouty genes control diastema tooth development via bidirectional antagonism of epithelial-mesenchymal FGF signaling.

[^]
12.

Metzger RJ et. al. (2008) The branching programme of mouse lung development.

[^]
13.

Tang N et. al. (2011) Control of mitotic spindle angle by the RAS-regulated ERK1/2 pathway determines lung tube shape.

[^]
14.

Milillo A et. al. (2015) A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.

[^]

 

 
Ihre Nachricht: