Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

Gliom-Neigung
IDH1

Referenzen:

1.

Yan W et. al. (1999) Corin, a mosaic transmembrane serine protease encoded by a novel cDNA from human heart.

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2.

Yan W et. al. (2000) Corin, a transmembrane cardiac serine protease, acts as a pro-atrial natriuretic peptide-converting enzyme.

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3.

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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4.

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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5.

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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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.

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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8.

Cui Y et. al. (2012) Role of corin in trophoblast invasion and uterine spiral artery remodelling in pregnancy.

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9.

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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10.

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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Update: 26. September 2018

 

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