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Article

The connexin 40 A96S mutation causes renin-dependent hypertension.

Journal of the American Society of Nephrology : JASN - 1 Jun 2011

Lübkemeier Indra, Machura Katharina, Kurtz Lisa, Neubauer Björn, Dobrowolski Radek, Schweda Frank, Wagner Charlotte, Willecke Klaus, Kurtz Armin

Abstract excerpt

Deletion of the gap-junction-forming protein connexin40 leads to renin-dependent hypertension in mice, but whether observed human variants in connexin40, such as A96S, promote hypertension is unknown. Here, we generated mice with the A96S variant in the mouse connexin40 gene. Although mice homozygous for the A96S mutations had normal expression patterns of connexin40 in the kidney, they were hypertensive, had...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21597036
DOI: 10.1681/ASN.2010101047
PMCID: PMC3103723

Genes

ACE

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