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SaveMG53's non-physiologic interaction with insulin receptor: lack of effect on insulin-stimulated Akt phosphorylation in muscle, heart and liver tissues
Lee, Kyung Eun; Nishi, Miyuki; Kim, Jongsoo; Murayama, Takashi; Dawson, Zachary; Wang, Xiaoliang; Zhou, Xinyu; Tan, Tao; Cai, Chuanxi; Takeshima, Hiroshi; Park, Ki Ho
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SaveMacrocephaly and developmental delay caused by missense variants in RAB5C
Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter
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SaveA dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C
Huang, Huiyan; Pan, Jiehong; Spielberg, David R.; Hanchard, Neil A.; Scott, Daryl A.; Burrage, Lindsay C.; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A.; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G.; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A.; Dawson, Zachary D.; Hu, Alex Z.; Tycksen, Eric; Silverman, Gary A.; Baldridge, Dustin; Wambach, Jennifer A.; Pak, Stephen C.; Brody, Steven L.; Schedl, Tim
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