Article
TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development.
PLoS biology - 1 Aug 2026
Doganli Canan, Thomsen Oskar Kaaber, Baird Daniel A, Ali Yeasmeen, Sarusie Menachem V K, Audain Enrique, Jessen Line Jeanett, Truelsen Pauline Munck, Mogensen Johanne Bay, Holm Maria Schrøder, Apolínová Kateřina, Buttò Lorenzo, Diamanti Maria, Fialová Jindřiška Leischner, Wade Emma M, Robertson Stephen P, Pedersen Lotte Bang, Argiro Laurent, Lescroart Fabienne, Hitz Marc-Phillip, Christensen Søren Tvorup, Larsen Lars Allan
Abstract excerpt
Pathogenic variants in the genes encoding the non-canonical TGFB signaling components TAK1 (MAP3K7), TAB2 and PKA-Cα (PRKACA) cause rare multisystem disorders, which may include congenital heart disease (CHD). To investigate the role of TAK1 signaling in CHD, we performed genetic analysis of CHD patients and discovered an increased burden of rare TAB2 and TAK1 variants in patients with extracardiac abnormalities....
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