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收藏分享 收藏 分享 收藏 分享 收藏 Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling遗传性ARPC5突变导致放线菌病损害细胞运动并破坏细胞因子信号传导
Nunes-Santos, Cristiane J.; Kuehn, HyeSun; Boast, Brigette; Hwang, SuJin; Kuhns, Douglas B.; Stoddard, Jennifer; Niemela, Julie E.; Fink, Danielle L.; Pittaluga, Stefania; Abu-Asab, Mones; Davies, John S.; Barr, Valarie A.; Kawai, Tomoki; Delmonte, Ottavia M.; Bosticardo, Marita; Garofalo, Mary; Carneiro-Sampaio, Magda; Somech, Raz; Gharagozlou, Mohammad; Parvaneh, Nima; Samelson, Lawrence E.; Fleisher, Thomas A.; Puel, Anne; Notarangelo, Luigi D.; Boisson, Bertrand; Casanova, Jean-Laurent; Derfalvi, Beata; Rosenzweig, Sergio D. 分享 收藏 分享 收藏 Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cellsFarnoodian, Mitra; Bose, Devika; Khristov, Vladimir; Susaimanickam, Praveen Joseph; Maddileti, Savitri; Mariappan, Indumathi; Abu-Asab, Mones; Campos, Maria; Villasmil, Rafael; Wan, Qin; Maminishkis, Arvydas; McGaughey, David; Barone, Francesca; Gundry, Rebekah L.; Riordon, Daniel R.; Boheler, Kenneth R.; Sharma, Ruchi; Bharti, Kapil 分享 收藏 分享 收藏 AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degenerationMiyagishima, Kiyoharu J.; Sharma, Ruchi; Nimmagadda, Malika; Clore-Gronenborn, Katharina; Qureshy, Zoya; Ortolan, Davide; Bose, Devika; Farnoodian, Mitra; Zhang, Congxiao; Fausey, Andrew; Sergeev, Yuri V.; Abu-Asab, Mones; Jun, Bokkyoo; Do, Khanh V.; Kautzman Guerin, Marie-Audrey; Calandria, Jorgelina; George, Aman; Guan, Bin; Wan, Qin; Sharp, Rachel C.; Cukras, Catherine; Sieving, Paul A.; Hufnagel, Robert B.; Bazan, Nicolas G.; Boesze-Battaglia, Kathleen; Miller, Sheldon; Bharti, Kapil 分享 收藏 分享 收藏 分享 收藏 Pde8b haploinsufficiency in mice is associated with modest adrenal defects, impaired steroidogenesis, and male infertility, unaltered by concurrent PKA or Wnt activationLeal, Leticia Ferro; Szarek, Eva; Berthon, Annabel; Nesterova, Maria; Faucz, Fabio R.; London, Edra; Mercier, Christopher; Abu-Asab, Mones; Starost, Matthew F.; Dye, Louis; Bilinska, Barbara; Kotula-Balak, Malgorzata; Antonini, Sonir R.; Stratakis, Constantine A. 分享 收藏 Somatic Mutations in
UBA1
and Severe Adult-Onset Autoinflammatory DiseaseBeck, David B.; Ferrada, Marcela A.; Sikora, Keith A.; Ombrello, Amanda K.; Collins, Jason C.; Pei, Wuhong; Balanda, Nicholas; Ross, Daron L.; Ospina Cardona, Daniela; Wu, Zhijie; Patel, Bhavisha; Manthiram, Kalpana; Groarke, Emma M.; Gutierrez-Rodrigues, Fernanda; Hoffmann, Patrycja; Rosenzweig, Sofia; Nakabo, Shuichiro; Dillon, Laura W.; Hourigan, Christopher S.; Tsai, Wanxia L.; Gupta, Sarthak; Carmona-Rivera, Carmelo; Asmar, Anthony J.; Xu, Lisha; Oda, Hirotsugu; Goodspeed, Wendy; Barron, Karyl S.; Nehrebecky, Michele; Jones, Anne; Laird, Ryan S.; Deuitch, Natalie; Rowczenio, Dorota; Rominger, Emily; Wells, Kristina V.; Lee, Chyi-Chia R.; Wang, Weixin; Trick, Megan; Mullikin, James; Wigerblad, Gustaf; Brooks, Stephen; Dell'Orso, Stefania; Deng, Zuoming; Chae, Jae J.; Dulau-Florea, Alina; Malicdan, May C. V.; Novacic, Danica; Colbert, Robert A.; Kaplan, Mariana J.; Gadina, Massimo; Savic, Sinisa; Lachmann, Helen J.; Abu-Asab, Mones; Solomon, Benjamin D.; Retterer, Kyle; Gahl, William A.; Burgess, Shawn M.; Aksentijevich, Ivona; Young, Neal S.; Calvo, Katherine R.; Werner, Achim; Kastner, Daniel L.; Grayson, Peter C. 分享 收藏 分享 收藏 分享 收藏 Mannose receptor (CD206) activation in tumor-associated macrophages enhances adaptive and innate antitumor immune responsesJaynes, Jesse M.; Sable, Rushikesh; Ronzetti, Michael; Bautista, Wendy; Knotts, Zachary; Abisoye-Ogunniyan, Abisola; Li, Dandan; Calvo, Raul; Dashnyam, Myagmarjav; Singh, Anju; Guerin, Theresa; White, Jason; Ravichandran, Sarangan; Kumar, Parimal; Talsania, Keyur; Chen, Vicky; Ghebremedhin, Anghesom; Karanam, Balasubramanyam; Bin Salam, Ahmad; Amin, Ruksana; Odzorig, Taivan; Aiken, Taylor; Nguyen, Victoria; Bian, Yansong; Zarif, Jelani C.; de Groot, Amber E.; Mehta, Monika; Fan, Lixin; Hu, Xin; Simeonov, Anton; Pate, Nathan; Abu-Asab, Mones; Ferrer, Marc; Southall, Noel; Ock, Chan-Young; Zhao, Yongmei; Lopez, Henry; Kozlov, Serguei; de Val, Natalia; Yates, Clayton C.; Baljinnyam, Bolormaa; Marugan, Juan; Rudloff, Udo 分享 收藏 Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retinaZhang, Congxiao; Miyagishima, Kiyoharu J.; Dong, Lijin; Rising, Aaron; Nimmagadda, Malika; Liang, Genqing; Sharma, Ruchi; Dejene, Roba; Wang, Yuan; Abu-Asab, Mones; Qian, Haohua; Li, Yichao; Kopera, Megan; Maminishkis, Arvydas; Martinez, Jennifer; Miller, Sheldon 分享 收藏 Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyLahrouchi, Najim; George, Aman; Ratbi, Ilham; Schneider, Ronen; Elalaoui, Siham C.; Moosa, Shahida; Bharti, Sanita; Sharma, Ruchi; Abu-Asab, Mones; Onojafe, Felix; Adadi, Najlae; Lodder, Elisabeth M.; Laarabi, Fatima-Zahra; Lamsyah, Yassine; Elorch, Hamza; Chebbar, Imane; Postma, Alex, V; Lougaris, Vassilios; Plebani, Alessandro; Altmueller, Janine; Kyrieleis, Henriette; Meiner, Vardiella; McNeill, Helen; Bharti, Kapil; Lyonnet, Stanislas; Wollnik, Bernd; Henrion-Caude, Alexandra; Berraho, Amina; Hildebrandt, Friedhelm; Bezzina, Connie R.; Brooks, Brian P.; Sefiani, Abdelaziz 分享 收藏 FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaManoli, Irini; Sysol, Justin R.; Epping, Madeline W.; Li, Lina; Wang, Cindy; Sloan, Jennifer L.; Pass, Alexandra; Gagne, Jack; Ktena, Yiouli P.; Li, Lingli; Trivedi, Niraj S.; Ouattara, Bazoumana; Zerfas, Patricia M.; Hoffmann, Victoria; Abu-Asab, Mones; Tsokos, Maria G.; Kleiner, David E.; Garone, Caterina; Cusmano-Ozog, Kristina; Enns, Gregory M.; Vernon, Hilary J.; Andersson, Hans C.; Grunewald, Stephanie; Elkahloun, Abdel G.; Girard, H Christiane L.; Schnermann, Jurgen; Dimauro, Salvatore; Andres-Mateos, Eva; Vandenberghe, Luk H.; Chandler, Randy J.; Venditti, Charles P. 分享 收藏 CaMK4 compromises podocyte function in autoimmune and nonautoimmune kidney diseaseMaeda, Kayaho; Otomo, Kotaro; Yoshida, Nobuya; Abu-Asab, Mones S.; Ichinose, Kunihiro; Nishino, Tomoya; Kono, Michihito; Ferretti, Andrew; Bhargava, Rhea; Maruyama, Shoichi; Bickerton, Sean; Fahmy, Tarek M.; Tsokos, Maria G.; Tsokos, George C. 分享 收藏 
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