Search Results - "LO, CECILIA"

Genetics of Congenital Heart Disease by Williams, Kylia, Carson, Jason, Lo, Cecilia

“…Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About…”
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IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment by Eguether, Thibaut, San Agustin, Jovenal T., Keady, Brian T., Jonassen, Julie A., Liang, Yinwen, Francis, Richard, Tobita, Kimimasa, Johnson, Colin A., Abdelhamed, Zakia A., Lo, Cecilia W., Pazour, Gregory J.

“…Vertebrate hedgehog signaling is coordinated by the differential localization of the receptors patched-1 and Smoothened in the primary cilium. Cilia assembly…”
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The Role of Cilia and the Complex Genetics of Congenital Heart Disease by Gabriel, George C, Ganapathiraju, Madhavi, Lo, Cecilia W

“…Congenital heart disease (CHD) can affect up to 1% of live births, and despite abundant evidence of a genetic etiology, the genetic landscape of CHD is still…”
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Role of cilia in the pathogenesis of congenital heart disease by Gabriel, George C., Young, Cullen B., Lo, Cecilia W.

“…•Cilia and cilia transduced cell signaling have key roles in congenital heart disease.•Disturbance in left-right patterning closely linked to congenital heart…”
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease by Li, You, Klena, Nikolai T., Gabriel, George C., Liu, Xiaoqin, Kim, Andrew J., Lemke, Kristi, Chen, Yu, Chatterjee, Bishwanath, Devine, William, Damerla, Rama Rao, Chang, Chienfu, Yagi, Hisato, San Agustin, Jovenal T., Thahir, Mohamed, Anderton, Shane, Lawhead, Caroline, Vescovi, Anita, Pratt, Herbert, Morgan, Judy, Haynes, Leslie, Smith, Cynthia L., Eppig, Janan T., Reinholdt, Laura, Francis, Richard, Leatherbury, Linda, Ganapathiraju, Madhavi K., Tobita, Kimimasa, Pazour, Gregory J., Lo, Cecilia W.

“…A forward genetic screen in fetal mice to identify genes involved in congenital heart disease (CHD) reveals that a large proportion of genes associated with…”
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Molecular Pathways and Animal Models of Defects in Situs by Gabriel, George C, Lo, Cecilia W

“…Left-right patterning is among the least well understood of the three axes defining the body plan, and yet it is no less important, with left-right patterning…”
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IFT25 Links the Signal-Dependent Movement of Hedgehog Components to Intraflagellar Transport by Keady, Brian T., Samtani, Rajeev, Tobita, Kimimasa, Tsuchya, Maiko, San Agustin, Jovenal T., Follit, John A., Jonassen, Julie A., Subramanian, Ramiah, Lo, Cecilia W., Pazour, Gregory J.

“…The intraflagellar transport (IFT) system is required for building primary cilia, sensory organelles that cells use to respond to their environment. IFT…”
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DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia by Li, You, Yagi, Hisato, Onuoha, Ezenwa Obi, Damerla, Rama Rao, Francis, Richard, Furutani, Yoshiyuki, Tariq, Muhammad, King, Stephen M, Hendricks, Gregory, Cui, Cheng, Saydmohammed, Manush, Lee, Dong Min, Zahid, Maliha, Sami, Iman, Leatherbury, Linda, Pazour, Gregory J, Ware, Stephanie M, Nakanishi, Toshio, Goldmuntz, Elizabeth, Tsang, Michael, Lo, Cecilia W

“…Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), a sinopulmonary disease with dyskinetic/immotile…”
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A computational framework for the detection of subcortical brain dysmaturation in neonatal MRI using 3D Convolutional Neural Networks by Ceschin, Rafael, Zahner, Alexandria, Reynolds, William, Gaesser, Jenna, Zuccoli, Giulio, Lo, Cecilia W., Gopalakrishnan, Vanathi, Panigrahy, Ashok

“…Deep neural networks are increasingly being used in both supervised learning for classification tasks and unsupervised learning to derive complex patterns from…”
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Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton by Cui, Cheng, Chatterjee, Bishwanath, Lozito, Thomas P, Zhang, Zhen, Francis, Richard J, Yagi, Hisato, Swanhart, Lisa M, Sanker, Subramaniam, Francis, Deanne, Yu, Qing, San Agustin, Jovenal T, Puligilla, Chandrakala, Chatterjee, Tania, Tansey, Terry, Liu, Xiaoqin, Kelley, Matthew W, Spiliotis, Elias T, Kwiatkowski, Adam V, Tuan, Rocky, Pazour, Gregory J, Hukriede, Neil A, Lo, Cecilia W

“…Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector…”
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Insights into the genetic architecture of congenital heart disease from animal modeling by Zhu, Wenjuan, Lo, Cecilia W

“…Congenital heart disease (CHD) is observed in up to 1% of live births and is one of the leading causes of mortality from birth defects. While hundreds of genes…”
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Autonomous and non-cell autonomous role of cilia in structural birth defects in mice by Francis, Richard J B, San Agustin, Jovenal T, Szabo Rogers, Heather L, Cui, Cheng, Jonassen, Julie A, Eguether, Thibaut, Follit, John A, Lo, Cecilia W, Pazour, Gregory J

“…Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel…”
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Cilia interactome with predicted protein–protein interactions reveals connections to Alzheimer’s disease, aging and other neuropsychiatric processes by Karunakaran, Kalyani B., Chaparala, Srilakshmi, Lo, Cecilia W., Ganapathiraju, Madhavi K.

“…Cilia are dynamic microtubule-based organelles present on the surface of many eukaryotic cell types and can be motile or non-motile primary cilia. Cilia…”
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Left–right patterning in congenital heart disease beyond heterotaxy by Gabriel, George C., Lo, Cecilia W.

“…Congenital heart defect is one of the most common structural birth defects in the human population. It is highly associated with heterotaxy, a birth defect…”
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Establishment of Cardiac Laterality by Gabriel, George C, Wu, Yijen L, Lo, Cecilia W

“…Formation of the vertebrate heart with its complex arterial and venous connections is critically dependent on patterning of the left-right axis during early…”
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Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries by Zahid, Maliha, Bais, Abha, Tian, Xin, Devine, William, Lee, Dong Ming, Yau, Cyrus, Sonnenberg, Daniel, Beerman, Lee, Khalifa, Omar, Lo, Cecilia W

“…Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high…”
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A detailed comparison of mouse and human cardiac development by Krishnan, Anita, Samtani, Rajeev, Dhanantwari, Preeta, Lee, Elaine, Yamada, Shigehito, Shiota, Kohei, Donofrio, Mary T., Leatherbury, Linda, Lo, Cecilia W.

“…Background: Mouse mutants are used to model human congenital cardiovascular disease. Few studies exist comparing normal cardiovascular development in mice vs…”
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Cilia and Ciliopathies in Congenital Heart Disease by Klena, Nikolai T, Gibbs, Brian C, Lo, Cecilia W

“…A central role for cilia in congenital heart disease (CHD) was recently identified in a large-scale mouse mutagenesis screen. Although the screen was…”
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates by Guimier, Anne, Gabriel, George C, Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D, Klena, Nikolai T, Jimenez, Gina, Miller, Neil A, Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J, Baker, Candice N, Di Filippo, Sylvie, Peterson, Kevin A, Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D, Farrow, Emily G, Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A, Bonnet, Damien, Kingsmore, Stephen F, Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W, Gordon, Christopher T

“…Christopher Gordon, Cecilia Lo, Patrice Bouvagnet and colleagues report loss-of-function mutations in the MMP21 gene (encoding matrix metallopeptidase 21) that…”
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The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex by Follit, John A, San Agustin, Jovenal T, Xu, Fenghui, Jonassen, Julie A, Samtani, Rajeev, Lo, Cecilia W, Pazour, Gregory J

“…Eukaryotic cells often use proteins localized to the ciliary membrane to monitor the extracellular environment. The mechanism by which proteins are sorted,…”
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