日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

POPDC2基因的双等位基因变异会导致一种常染色体隐性遗传综合征,其特征为心脏传导缺陷和肥厚型心肌病。

Nicastro, Michele; Vermeer, Alexa M C; Postema, Pieter G; Tadros, Rafik; Bowling, Forrest Z; Aegisdottir, Hildur M; Tragante, Vinicius; Mach, Lukas; Postma, Alex V; Lodder, Elisabeth M; van Duijvenboden, Karel; Zwart, Rob; Beekman, Leander; Wu, Lingshuang; Jurgens, Sean J; van der Zwaag, Paul A; Alders, Mariëlle; Allouba, Mona; Aguib, Yasmine; Santome, J Luis; de Una, David; Monserrat, Lorenzo; Miranda, Antonio M A; Kanemaru, Kazumasa; Cranley, James; van Zeggeren, Ingeborg E; Aronica, Eleonora M A; Ripolone, Michela; Zanotti, Simona; Sveinbjornsson, Gardar; Ivarsdottir, Erna V; Hólm, Hilma; Guðbjartsson, Daníel F; Skúladóttir, Ástrós Th; Stefánsson, Kári; Nadauld, Lincoln; Knowlton, Kirk U; Ostrowski, Sisse Rye; Sørensen, Erik; Vesterager Pedersen, Ole Birger; Ghouse, Jonas; Rand, Søren A; Bundgaard, Henning; Ullum, Henrik; Erikstrup, Christian; Aagaard, Bitten; Bruun, Mie Topholm; Christiansen, Mette; Jensen, Henrik K; Carere, Deanna Alexis; Cummings, Christopher T; Fishler, Kristen; Tørring, Pernille Mathiesen; Brusgaard, Klaus; Juul, Trine Maxel; Saaby, Lotte; Winkel, Bo Gregers; Mogensen, Jens; Fortunato, Francesco; Comi, Giacomo Pietro; Ronchi, Dario; van Tintelen, J Peter; Noseda, Michela; Airola, Michael V; Christiaans, Imke; Wilde, Arthur A M; Wilders, Ronald; Clur, Sally-Ann; Verkerk, Arie O; Bezzina, Connie R; Lahrouchi, Najim

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

明确Arf GTP酶的近端相互作用网络揭示了PLD1和PI4KB的调控机制

Fu-Long Li ,Zhengming Wu ,Yong-Qi Gao ,Forrest Z Bowling ,J Matthew Franklin ,Chongze Hu ,Raymond T Suhandynata ,Michael A Frohman ,Michael V Airola ,Huilin Zhou ,Kun-Liang Guan

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

PLD1基因的双等位基因功能缺失变异会导致先天性右侧心脏瓣膜缺陷和新生儿心肌病。

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

Structure and regulation of human phospholipase D

人类磷脂酶D的结构和调控

Bowling, Forrest Z; Frohman, Michael A; Airola, Michael V

Crystal structure of human PLD1 provides insight into activation by PI(4,5)P2 and RhoA

人类 PLD1 的晶体结构揭示了 PI(4,5)P2 和 RhoA 的激活作用

Forrest Z Bowling, Christian M Salazar, Justin A Bell, Tahrima S Huq, Michael A Frohman, Michael V Airola