Notch Signaling Is Antagonized by SAO-1, a Novel GYF-Domain Protein That Interacts with the E3 Ubiquitin Ligase SEL-10 in Caenorhabditis elegans

Por Hale, Valerie A., Guiney, Evan L., Goldberg, Lindsey Y., Haduong, Josephine H., Kwartler, Callie S., Scangos, Katherine W., Goutte, Caroline
Publicado em 2012

Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2(+/−) mice

Por Cao, Jiumei, Gong, Limin, Guo, Dong-chuan, Mietzsch, Ulrike, Kuang, Shao-Qing, Kwartler, Callie S., Safi, Hazim, Estrera, Anthony, Gambello, Michael J., Milewicz, Dianna M.
Publicado em 2010

Aortic Remodeling Following Transverse Aortic Constriction in Mice is Attenuated with AT(1) Receptor Blockade

Por Kuang, Shao-Qing, Geng, Liang, Prakash, Siddharth K., Cao, Jiu-Mei, Guo, Steven, Villamizar, Carlos, Kwartler, Callie S., Ju, Xiaoxi, Brasier, Allan R., Milewicz, Dianna M.
Publicado no Arterioscler Thromb Vasc Biol (2013)

Rare, Non-Synonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain, MYH11, R247C, Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells

Por Kuang, Shao-Qing, Kwartler, Callie S., Byanova, Katerina L., Pham, John, Gong, Limin, Prakash, Siddharth K., Huang, Jian, Kamm, Kristine E., Stull, James T., Sweeney, H. Lee, Milewicz, Dianna M.
Publicado em 2012

Overexpression of Smooth Muscle Myosin Heavy Chain Leads to Activation of the Unfolded Protein Response and Autophagic Turnover of Thick Filament-associated Proteins in Vascular Sm...

Por Kwartler, Callie S., Chen, Jiyuan, Thakur, Dhananjay, Li, Shumin, Baskin, Kedryn, Wang, Shanzhi, Wang, Zhao V., Walker, Lori, Hill, Joseph A., Epstein, Henry F., Taegtmeyer, Heinrich, Milewicz, Dianna M.
Publicado em 2014

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

Por Inamoto, Sakiko, Kwartler, Callie S., Lafont, Andrea L., Liang, Yao Yun, Fadulu, Van Tran, Duraisamy, Senthil, Willing, Marcia, Estrera, Anthony, Safi, Hazim, Hannibal, Mark C., Carey, John, Wiktorowicz, John, Tan, Filemon K., Feng, Xin-Hua, Pannu, Hariyadarshi, Milewicz, Dianna M.
Publicado em 2010

Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived g...

Por Papke, Christina L., Cao, Jiumei, Kwartler, Callie S., Villamizar, Carlos, Byanova, Katerina L., Lim, Soon-Mi, Sreenivasappa, Harini, Fischer, Grant, Pham, John, Rees, Meredith, Wang, Miranda, Chaponnier, Christine, Gabbiani, Giulio, Khakoo, Aarif Y., Chandra, Joya, Trache, Andreea, Zimmer, Warren, Milewicz, Dianna M.
Publicado em 2013

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

Por Kuang, Shao-Qing, Guo, Dong-Chuan, Prakash, Siddharth K., McDonald, Merry-Lynn N., Johnson, Ralph J., Wang, Min, Regalado, Ellen S., Russell, Ludivine, Cao, Jiu-Mei, Kwartler, Callie, Fraivillig, Kurt, Coselli, Joseph S., Safi, Hazim J., Estrera, Anthony L., Leal, Suzanne M., LeMaire, Scott A., Belmont, John W., Milewicz, Dianna M.
Publicado em 2011

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Por Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J., Nickerson, Deborah A., Gornik, Heather L., Ganesh, Santhi K., Braverman, Alan C., Grange, Dorothy K., Milewicz, Dianna M.
Publicado no Am J Hum Genet (2017)

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

Por Kuang, Shao-Qing, Medina-Martinez, Olga, Guo, Dong-chuan, Gong, Limin, Regalado, Ellen S., Reynolds, Corey L., Boileau, Catherine, Jondeau, Guillaume, Prakash, Siddharth K., Kwartler, Callie S., Zhu, Lawrence Yang, Peters, Andrew M., Duan, Xue-Yan, Bamshad, Michael J., Shendure, Jay, Nickerson, Debbie A., Santos-Cortez, Regie L., Dong, Xiurong, Leal, Suzanne M., Majesky, Mark W., Swindell, Eric C., Jamrich, Milan, Milewicz, Dianna M.
Publicado no J Clin Invest (2016)

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Por Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M.
Publicado em 2012