Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Autor: Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten

Publikováno v: CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC

Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef92ee7a5ecfb1bc070dbd1d6f217fa
https://hdl.handle.net/1887/3213006

Crystal structure of the human phospholipase D1 catalytic domain provides insight into activation by PI(4,5)P 2 and RhoA

Autor: Christian M. Salazar, Forrest Z. Bowling, Michael V. Airola, Mike Frohman

Publikováno v: The FASEB Journal. 34:1-1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4aadc82afa357e1d3a5b4635fe774921
https://doi.org/10.1096/fasebj.2020.34.s1.03952