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Notch Signaling Is Antagonized by SAO-1, a Novel GYF-Domain Protein That Interacts with the E3 Ubiquitin Ligase SEL-10 in Caenorhabditis elegans.
Published in:
Genetics, 2012, v. 190, n. 3, p. 1043, doi. 10.1534/genetics.111.136804
By:
- Hale, Valerie A.;
- Guiney, Evan L.;
- Goldberg, Lindsey Y.;
- Haduong, Josephine H.;
- Kwartler, Callie S.;
- Scangos, Katherine W.;
- Goutte, Caroline
Publication type:
Article
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2389, doi. 10.1002/ajmg.a.62775
By:
- Kaw, Anita;
- Kaw, Kaveeta;
- Hostetler, Ellen M.;
- Beleza‐Meireles, Ana;
- Smith‐Collins, Adam;
- Armstrong, Catherine;
- Scurr, Ingrid;
- Cotts, Timothy;
- Aatre, Rajani;
- Bamshad, Michael J.;
- Earl, Dawn;
- Groner, Abraham;
- Agre, Katherine;
- Raveh, Yehuda;
- Kwartler, Callie S.;
- Milewicz, Dianna M.
Publication type:
Article
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 628, doi. 10.1002/ajmg.a.62541
By:
- Cecchi, Alana C.;
- Haidar, Amier;
- Marin, Isabella;
- Kwartler, Callie S.;
- Prakash, Siddharth K.;
- Milewicz, Dianna M.
Publication type:
Article
Grange syndrome due to homozygous YY1AP1 missense rare variants.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2500, doi. 10.1002/ajmg.a.61379
By:
- Ciuffetelli Alamo, Isabella V.;
- Kwartler, Callie S.;
- Regalado, Ellen R.;
- Afifi, Rana O.;
- Parkash, Sandhya;
- Rideout, Andrea;
- Guo, Dong‐chuan;
- Milewicz, Dianna M.
Publication type:
Article
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
By:
- Boileau, Catherine;
- Guo, Dong-Chuan;
- Hanna, Nadine;
- Regalado, Ellen S;
- Detaint, Delphine;
- Gong, Limin;
- Varret, Mathilde;
- Prakash, Siddharth K;
- 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
Publication type:
Article
Smooth muscle α-actin missense variant promotes atherosclerosis through modulation of intracellular cholesterol in smooth muscle cells.
Published in:
European Heart Journal, 2023, v. 44, n. 29, p. 2713, doi. 10.1093/eurheartj/ehad373
By:
- Kaw, Kaveeta;
- Chattopadhyay, Abhijnan;
- Guan, Pujun;
- Chen, Jiyuan;
- Majumder, Suravi;
- Duan, Xue-yan;
- Ma, Shuangtao;
- Zhang, Chen;
- Kwartler, Callie S;
- Milewicz, Dianna M
Publication type:
Article
TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
Published in:
Cardiovascular Research, 2010, v. 88, n. 3, p. 520, doi. 10.1093/cvr/cvq230
By:
- Inamoto, Sakiko;
- Kwartler, Callie S.;
- Lafont, Andrea L.;
- Yao Yun Liang;
- Fadulu, Van Tran;
- Duraisamy, Senthil;
- Willing, Marcia;
- Estrera, Anthony;
- Safi, Hazim;
- Hannibal, Mark C.;
- Carey, John;
- Wiktorowicz, John;
- Tan, Filemon K.;
- Xin-Hua Feng;
- Pannu, Hariyadarshi;
- Milewicz, Dianna M.
Publication type:
Article
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Published in:
2016
By:
- Shao-Qing Kuang;
- Medina-Martinez, Olga;
- Dong-chuan Guo;
- Limin Gong;
- Regalado, Ellen S.;
- Reynolds, Corey L.;
- Boileau, Catherine;
- Jondeau, Guillaume;
- Prakash, Siddharth K.;
- Kwartler, Callie S.;
- Yang Zhu, Lawrence;
- Peters, Andrew M.;
- Xue-Yan Duan;
- Bamshad, Michael J.;
- Shendure, Jay;
- Nickerson, Debbie A.;
- Santos-Cortez, Regie L.;
- Xiurong Dong;
- Lea, Suzanne M.;
- Majesky, Mark W.
Publication type:
journal article
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 growth factor receptor-β.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 15, p. 3123, doi. 10.1093/hmg/ddt167
By:
- 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.
Publication type:
Article
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/− mice.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 10, p. 1908, doi. 10.1093/hmg/ddq066
By:
- 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.
Publication type:
Article

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