Search Results - "Swindell, Eric C"

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms by Guo, Dong-chuan, Gong, Limin, Regalado, Ellen S., Santos-Cortez, Regie L., Zhao, Ren, Cai, Bo, Veeraraghavan, Sudha, Prakash, Siddharth K., Johnson, Ralph J., Muilenburg, Ann, Willing, Marcia, Jondeau, Guillaume, Boileau, Catherine, Pannu, Hariyadarshi, Moran, Rocio, Debacker, Julie, Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Leal, Suzanne M., Raman, C.S., Swindell, Eric C., Milewicz, Dianna M.

“…Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of…”
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Identification of 315 Genes Essential for Early Zebrafish Development by Amsterdam, Adam, Nissen, Robert M., Sun, Zhaoxia, Swindell, Eric C., Farrington, Sarah, Hopkins, Nancy

“…We completed a large insertional mutagenesis screen in zebrafish to identify genes essential for embryonic and early larval development. We isolated 525…”
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FOXE3 mutations predispose to thoracic aortic aneurysms and dissections by 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

“…The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs)…”
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Lxr regulates lipid metabolic and visual perception pathways during zebrafish development by Pinto, Caroline Lucia, Kalasekar, Sharanya Maanasi, McCollum, Catherine W., Riu, Anne, Jonsson, Philip, Lopez, Justin, Swindell, Eric C., Bouhlatouf, Abdel, Balaguer, Patrick, Bondesson, Maria, Gustafsson, Jan-Åke

“…The Liver X Receptors (LXRs) play important roles in multiple metabolic pathways, including fatty acid, cholesterol, carbohydrate and energy metabolism. To…”
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Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells by Keeley, Patrick W, Luna, Gabriel, Fariss, Robert N, Skyles, Kimberly A, Madsen, Nils R, Raven, Mary A, Poché, Ross A, Swindell, Eric C, Jamrich, Milan, Oh, Edwin C, Swaroop, Anand, Fisher, Steven K, Reese, Benjamin E

“…The present study examined the consequences of eliminating horizontal cells from the outer retina during embryogenesis upon the organization and assembly of…”
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PALS1 is essential for retinal pigment epithelium structure and neural retina stratification by Park, Bokyung, Alves, Celso Henrique, Lundvig, Ditte M, Tanimoto, Naoyuki, Beck, Susanne C, Huber, Gesine, Richard, Fabrice, Klooster, Jan, Andlauer, Till F M, Swindell, Eric C, Jamrich, Milan, Le Bivic, André, Seeliger, Mathias W, Wijnholds, Jan

“…The membrane-associated palmitoylated protein 5 (MPP5 or PALS1) is thought to organize intracellular PALS1-CRB-MUPP1 protein scaffolds in the retina that are…”
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Role of adenylate cyclase 1 in retinofugal map development by Dhande, Onkar S., Bhatt, Shivani, Anishchenko, Anastacia, Elstrott, Justin, Iwasato, Takuji, Swindell, Eric C., Xu, Hong-Ping, Jamrich, Milan, Itohara, Shigeyoshi, Feller, Marla B., Crair, Michael C.

“…The development of topographic maps of the sensory periphery is sensitive to the disruption of adenylate cyclase 1 (AC1) signaling. AC1 catalyzes the…”
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Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish by Yuan, Qiuping, Chiquet, Brett T., DeVault, Laura, Warman, Matthew L., Nakamura, Yukio, Swindell, Eric C., Hecht, Jacqueline T.

“…Nonsyndromic cleft lip and palate (NSCLP), a common birth defect, affects 4,000 newborns in the US each year. Previously, we described an association between…”
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Unique domain appended to vertebrate tRNA synthetase is essential for vascular development by Xu, Xiaoling, Shi, Yi, Zhang, Hui-Min, Swindell, Eric C., Marshall, Alan G., Guo, Min, Kishi, Shuji, Yang, Xiang-Lei

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Rx-Cre, a tool for inactivation of gene expression in the developing retina by Swindell, Eric C., Bailey, Travis J., Loosli, Felix, Liu, Chaomei, Amaya-Manzanares, Felipe, Mahon, Kathleen A., Wittbrodt, Joachim, Jamrich, Milan

“…Rx is a homeobox‐containing gene that is critical for vertebrate eye development. Its expression domain delineates a field of cells from which the retina and…”
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Carboxypeptidase Z (CPZ) modulates Wnt signaling and regulates the development of skeletal elements in the chicken by Moeller, Carsten, Swindell, Eric C, Kispert, Andreas, Eichele, Gregor

“…Carboxypeptidase Z (CPZ) is a secreted Zn-dependent enzyme whose biological function is largely unknown. CPZ has a bipartite structure consisting of an…”
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Unique domain appended to vertebrate tRNA synthetase is essential for vascular development by Xu, Xiaoling, Shi, Yi, Zhang, Hui-Min, Swindell, Eric C., Marshall, Alan G., Guo, Min, Kishi, Shuji, Yang, Xiang-Lei

“…New domains were progressively added to cytoplasmic aminoacyl transfer RNA (tRNA) synthetases during evolution. One example is the UNE-S domain, appended to…”
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Regulation and function of foxe3 during early zebrafish development by Swindell, Eric C., Zilinski, Carolyn A., Hashimoto, Ryuju, Shah, Rina, Lane, Mary Ellen, Jamrich, Milan

“…In this article, we investigate the expression, regulation, and function of the zebrafish forkhead gene foxe3. In wild type embryos, foxe3 is first expressed…”
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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia by Egunsola, Adetutu T, Bae, Yangjin, Jiang, Ming-Ming, Liu, David S, Chen-Evenson, Yuqing, Bertin, Terry, Chen, Shan, Lu, James T, Nevarez, Lisette, Magal, Nurit, Raas-Rothschild, Annick, Swindell, Eric C, Cohn, Daniel H, Gibbs, Richard A, Campeau, Philippe M, Shohat, Mordechai, Lee, Brendan H

“…Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as…”
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Rax is a selector gene for mediobasal hypothalamic cell types by Lu, Fuqu, Kar, Deepon, Gruenig, Nicole, Zhang, Zi Wei, Cousins, Nicole, Rodgers, Helen M, Swindell, Eric C, Jamrich, Milan, Schuurmans, Carol, Mathers, Peter H, Kurrasch, Deborah M

“…The brain plays a central role in controlling energy, glucose, and lipid homeostasis, with specialized neurons within nuclei of the mediobasal hypothalamus,…”
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Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes by Chiquet, Brett T, Yuan, Qiuping, Swindell, Eric C, Maili, Lorena, Plant, Robert, Dyke, Jeffrey, Boyer, Ryan, Teichgraeber, John F, Greives, Matthew R, Mulliken, John B, Letra, Ariadne, Blanton, Susan H, Hecht, Jacqueline T

“…Orofacial development is a multifaceted process involving tightly regulated genetic signaling networks, that when perturbed, lead to orofacial abnormalities…”
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Crispld2 is required for neural crest cell migration and cell viability during zebrafish craniofacial development by Swindell, Eric C., Yuan, Qiuping, Maili, Lorena E., Tandon, Bhavna, Wagner, Daniel S., Hecht, Jacqueline T.

“…Summary The CAP superfamily member, CRISPLD2, has previously been shown to be associated with nonsyndromic cleft lip and palate (NSCLP) in human populations…”
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Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis by CHO, Seo-Hee, JIN YOUNG KIM, SIMONS, David L, JI YUN SONG, LE, Julie H, SWINDELL, Eric C, JAMRICH, Milan, WU, Samuel M, KIM, Seonhee

“…Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by…”
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Role of WNT10A in failure of tooth development in humans and zebrafish by Yuan, Qiuping, Zhao, Min, Tandon, Bhavna, Maili, Lorena, Liu, Xiaoming, Zhang, Anqi, Baugh, Evan H., Tran, Tam, Silva, Renato M., Hecht, Jacqueline T., Swindell, Eric C., Wagner, Daniel S., Letra, Ariadne

“…Background Oligodontia is a severe form of tooth agenesis characterized by the absence of six or more permanent teeth. Oligodontia has complex etiology and…”
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Complementary Domains of Retinoic Acid Production and Degradation in the Early Chick Embryo by Swindell, Eric C., Thaller, Christina, Sockanathan, Shanthini, Petkovich, Martin, Jessell, Thomas M., Eichele, Gregor

“…Excess retinoids as well as retinoid deprivation cause abnormal development, suggesting that retinoid homeostasis is critical for proper morphogenesis. RALDH-2…”
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