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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: frohman ma. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
Structure and regulation of human phospholipase D.
Bowling FZ, Frohman MA, Airola MV. Bowling FZ, et al. Among authors: frohman ma. Adv Biol Regul. 2021 Jan;79:100783. doi: 10.1016/j.jbior.2020.100783. Epub 2021 Jan 3. Adv Biol Regul. 2021. PMID: 33495125 Free PMC article. Review.
PLD1 regulates mTOR signaling and mediates Cdc42 activation of S6K1.
Fang Y, Park IH, Wu AL, Du G, Huang P, Frohman MA, Walker SJ, Brown HA, Chen J. Fang Y, et al. Among authors: frohman ma. Curr Biol. 2003 Dec 2;13(23):2037-44. doi: 10.1016/j.cub.2003.11.021. Curr Biol. 2003. PMID: 14653992 Free article.
170 results