ANP-Konvertase
Das CORIN-Gen kodiert eine Serin-Protease welche das atriale Natriuretische Peptid in Herzmuskelzellen aktiviert. Mutationen in diesem Gen werden für die familiäre Präeklampsie 5 verantwortlich gemacht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Dries DL et al. (2005) Corin gene minor allele defined by 2 missense mutations is common in blacks and associated with high blood pressure and hypertension.
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2. |
Wang W et al. (2008) Corin variant associated with hypertension and cardiac hypertrophy exhibits impaired zymogen activation and natriuretic peptide processing activity.
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3. |
Dong N et al. (2013) Corin mutation R539C from hypertensive patients impairs zymogen activation and generates an inactive alternative ectodomain fragment.
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4. |
Pan J et al. (2002) Genomic structures of the human and murine corin genes and functional GATA elements in their promoters.
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5. |
Knappe S et al. (2003) Functional analysis of the transmembrane domain and activation cleavage of human corin: design and characterization of a soluble corin.
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6. |
Guipponi M et al. (2008) An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
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7. |
Cui Y et al. (2012) Role of corin in trophoblast invasion and uterine spiral artery remodelling in pregnancy.
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8. |
Dong N et al. (2014) Corin mutations K317E and S472G from preeclamptic patients alter zymogen activation and cell surface targeting. [Corrected].
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9. |
Yan W et al. (1999) Corin, a mosaic transmembrane serine protease encoded by a novel cDNA from human heart.
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10. |
Yan W et al. (2000) Corin, a transmembrane cardiac serine protease, acts as a pro-atrial natriuretic peptide-converting enzyme.
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11. |
NCBI article
NCBI 10699
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12. |
OMIM.ORG article
Omim 605236
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13. |
Orphanet article
Orphanet ID 434292
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14. |
Wikipedia Artikel
Wikipedia DE (Corin)
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Update: 14. August 2020