SPRY2-Gen
Das SPRY2-Gen kodiert ein Protein, dass in verschiedene Transduktionsprozesse eingebunden ist. Mutationen führen zur autosomal dominanten IgA-Nephropathie vom Typ 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Milillo A et al. (2015) A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
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2. |
Hacohen N et al. (1998) sprouty encodes a novel antagonist of FGF signaling that patterns apical branching of the Drosophila airways.
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3. |
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.
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4. |
Gross I et al. (2001) Mammalian sprouty proteins inhibit cell growth and differentiation by preventing ras activation.
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5. |
Yusoff P et al. (2002) Sprouty2 inhibits the Ras/MAP kinase pathway by inhibiting the activation of Raf.
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6. |
Egan JE et al. (2002) The bimodal regulation of epidermal growth factor signaling by human Sprouty proteins.
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7. |
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.
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8. |
Hanafusa H et al. (2002) Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway.
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9. |
Ding W et al. (2003) Functional analysis of the human Sprouty2 gene promoter.
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10. |
Shim K et al. (2005) Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling.
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11. |
Taketomi T et al. (2005) Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia.
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12. |
Klein OD et al. (2006) Sprouty genes control diastema tooth development via bidirectional antagonism of epithelial-mesenchymal FGF signaling.
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13. |
Metzger RJ et al. (2008) The branching programme of mouse lung development.
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14. |
Tang N et al. (2011) Control of mitotic spindle angle by the RAS-regulated ERK1/2 pathway determines lung tube shape.
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15. |
NCBI article
NCBI 10253
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16. |
OMIM.ORG article
Omim 602466
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Update: 14. August 2020