Profiling development of abdominal organs in the pig

Autor: George C. Gabriel, William A. Devine, Bethany K. Redel, Kristin M. Whitworth, Melissa Samuel, Lee D. Spate, Raissa F. Cecil, Randall S. Prather, Yijen L. Wu, Kevin D. Wells, Cecilia W. Lo

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

Abstract The pig is an ideal model system for studying human development and disease due to its similarities to human anatomy, physiology, size, and genome. Further, advances in CRISPR gene editing have made genetically engineered pigs viable models

Externí odkaz: https://doaj.org/article/93f422a95d7043129581d1f40224dc7b

Mitochondrial Respiration Defects in Single-Ventricle Congenital Heart Disease

Autor: Xinxiu Xu, Jiuann-Huey Ivy Lin, Abha S. Bais, Michael John Reynolds, Tuantuan Tan, George C. Gabriel, Zoie Kondos, Xiaoqin Liu, Sruti S. Shiva, Cecilia W. Lo

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 8 (2021)

Background: Congenital heart disease (CHD) with single-ventricle (SV) physiology is now survivable with a three-stage surgical course ending with Fontan palliation. However, 10-year transplant-free survival remains at 39–50%, with ventricular dysfu

Externí odkaz: https://doaj.org/article/ae509c34d44f4add901f9f5ae723502c

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Autor: Bram P. Prins, Timothy J. Mead, Jennifer A. Brody, Gardar Sveinbjornsson, Ioanna Ntalla, Nathan A. Bihlmeyer, Marten van den Berg, Jette Bork-Jensen, Stefania Cappellani, Stefan Van Duijvenboden, Nikolai T. Klena, George C. Gabriel, Xiaoqin Liu, Cagri Gulec, Niels Grarup, Jeffrey Haessler, Leanne M. Hall, Annamaria Iorio, Aaron Isaacs, Ruifang Li-Gao, Honghuang Lin, Ching-Ti Liu, Leo-Pekka Lyytikäinen, Jonathan Marten, Hao Mei, Martina Müller-Nurasyid, Michele Orini, Sandosh Padmanabhan, Farid Radmanesh, Julia Ramirez, Antonietta Robino, Molly Schwartz, Jessica van Setten, Albert V. Smith, Niek Verweij, Helen R. Warren, Stefan Weiss, Alvaro Alonso, David O. Arnar, Michiel L. Bots, Rudolf A. de Boer, Anna F. Dominiczak, Mark Eijgelsheim, Patrick T. Ellinor, Xiuqing Guo, Stephan B. Felix, Tamara B. Harris, Caroline Hayward, Susan R. Heckbert, Paul L. Huang, J. W. Jukema, Mika Kähönen, Jan A. Kors, Pier D. Lambiase, Lenore J. Launer, Man Li, Allan Linneberg, Christopher P. Nelson, Oluf Pedersen, Marco Perez, Annette Peters, Ozren Polasek, Bruce M. Psaty, Olli T. Raitakari, Kenneth M. Rice, Jerome I. Rotter, Moritz F. Sinner, Elsayed Z. Soliman, Tim D. Spector, Konstantin Strauch, Unnur Thorsteinsdottir, Andrew Tinker, Stella Trompet, André Uitterlinden, Ilonca Vaartjes, Peter van der Meer, Uwe Völker, Henry Völzke, Melanie Waldenberger, James G. Wilson, Zhijun Xie, Folkert W. Asselbergs, Marcus Dörr, Cornelia M. van Duijn, Paolo Gasparini, Daniel F. Gudbjartsson, Vilmundur Gudnason, Torben Hansen, Stefan Kääb, Jørgen K. Kanters, Charles Kooperberg, Terho Lehtimäki, Henry J. Lin, Steven A. Lubitz, Dennis O. Mook-Kanamori, Francesco J. Conti, Christopher H. Newton-Cheh, Jonathan Rosand, Igor Rudan, Nilesh J. Samani, Gianfranco Sinagra, Blair H. Smith, Hilma Holm, Bruno H. Stricker, Sheila Ulivi, Nona Sotoodehnia, Suneel S. Apte, Pim van der Harst, Kari Stefansson, Patricia B. Munroe, Dan E. Arking, Cecilia W. Lo, Yalda Jamshidi

Publikováno v: Genome Biology, Vol 19, Iss 1, Pp 1-17 (2018)

Abstract Background Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the varia

Externí odkaz: https://doaj.org/article/90c79bdbde864108a63e5a86f193c9b6

Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects

Autor: Brian C. Gibbs, Rama Rao Damerla, Eszter K. Vladar, Bishwanath Chatterjee, Yong Wan, Xiaoqin Liu, Cheng Cui, George C. Gabriel, Maliha Zahid, Hisato Yagi, Heather L. Szabo-Rogers, Kaye L. Suyama, Jeffrey D. Axelrod, Cecilia W. Lo

Publikováno v: Biology Open, Vol 5, Iss 3, Pp 323-335 (2016)

Planar cell polarity (PCP) is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj) in Prickle1 (Pk1), a PCP component, exhibit developm

Externí odkaz: https://doaj.org/article/c2fc0a651ddd4dd79f9745140bfe7151

Role of cilia in the pathogenesis of congenital heart disease

Autor: Cullen B. Young, Cecilia W. Lo, George C. Gabriel

Publikováno v: Semin Cell Dev Biol

An essential role for cilia in the pathogenesis of congenital heart disease (CHD) has emerged from findings of a large-scale mouse forward genetic screen. High throughput screening with fetal ultrasound imaging followed by whole exome sequencing anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5205bdf9c69395bcf60ed6990ab118
https://doi.org/10.1016/j.semcdb.2020.04.017