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Article

Rare regulatory mutations disrupt mesenchymal molecular programs driving endocardial cushion formation in bicuspid aortic valve.

Nature communications - 18 Apr 2026

Zhigulev Artemy, Buyan Andrey, Lázár Enikő, Gryzunov Nikita, Lång Karin, Mauron Raphaël, Nozdrin Vladimir, Spalinskas Rapolas, Pradhananga Sailendra, Petersson Sjögren Madeleine, Schwochow Doreen, Franco-Cereceda Anders, Lundeberg Joakim, Kulakovskiy Ivan V, Eriksson Per, Björck Hanna M, Sahlén Pelin

Abstract excerpt

Bicuspid aortic valve, a prevalent congenital malformation, predisposes individuals to severe complications. Although the condition exhibits substantial heritability, known protein-coding and common regulatory mutations explain a minority of cases. To assess the contribution of rare regulatory variants, here we integrate high-resolution three-dimensional genome organization profiling with matched whole-genome...

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Identifiers

PMID: 41997951
DOI: 10.1038/s41467-026-71758-5
PMCID: PMC13090386

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