Ham, Hyoungjun; Jing, Huie; Lamborn, Ian T.; Kober, Megan M.; Koval, Alexey; Berchiche, Yamina A.; Anderson, D. Eric; Druey, Kirk M.; Mandl, Judith N.; Isidor, Bertrand; Ferreira, Carlos R.; Freeman, Alexandra F.; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter J.; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew J.; Schmid, Jana Pachlopnik; Kuhns, Douglas B.; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien A.; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol A.; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth N.; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki M.; Matthews, Helen F.; Simons, Cas; Taft, Ryan J.; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle L.; Kong, Heidi H.; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy P.; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val J.; Stratakis, Constantine A.; Rodriguez-Quevedo, Maria F.; Bruel, Ange Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen E.; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; McWalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif S.; Casanova, Jean Laurent; Makitie, Outi M.; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald N.; Goodnow, Christopher C.; Sakmar, Thomas P.; Billadeau, Daniel D.; Küry, Sébastien; Katanaev, Vladimir L.; Zhang, Yu; Lenardo, Michael J.; Su, Helen C.
(American Association for the Advancement of Science, 2024-09-20)
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in GNAI2, which encodes Gαi2, a key component in heterotrimeric ...