Results 121 to 130 of about 10,966 (204)
Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene
PLOS ONE, 2017 Human SERPINA1 gene is located on chromosome 14q31-32.3 and is organized into three (IA, IB, and IC) non-coding and four (II, III, IV, V) coding exons. This gene produces α1-antitrypsin (A1AT), a prototypical member of the serpin superfamily of proteins.Nerea Matamala, Nupur Aggarwal, Paolo Iadarola, Marco Fumagalli, Gema Gomez-Mariano, Beatriz Lara, Maria Teresa Martinez, Isabel Cuesta, Jan Stolk, Sabina Janciauskiene, Beatriz Martinez-Delgado +10 moreopenaire +8 more sourcesAccurate Indentification of Pathogenic Mutations Conferring α1-Antitrypsin Deficiency by a Novel Multiplexed Molecular AssayTake-home Points
CHEST PulmonaryBackground: α1-Antitrypsin deficiency (AATD) is a common, underdiagnosed disease caused by mutations in the polymorphic SERPINA1 gene. AATD often causes COPD, other respiratory ailments, and severe liver disease.Emily K. DeCurtis, BSc, Sharon K. Kuss-Duerkop, PhD, Iara M.P. Machado, PhD, Zoe P. Stewart, BSc, Matt Jackson, MS, Ellie Hasenohr, BSc, Jessica L. Crumby, BSc, Steve D. Groshong, MD, PhD, Claire M. Coeshott, PhD, Ronald J. Harbeck, PhD, James P. Woodrow, MD, Robert A. Sandhaus, MD, PhD, Yongbao Wang, PhD +12 moredoaj +1 more sourceEvaluation of Congo red staining kit to determine proteinuria in preeclampsia [PDF]
, 2018 Plantear la posible utilidad del uso de la tinción de Rojo Congo en el diagnóstico de proteinuria en casos de preeclampsia.Introduction: Preeclampsia is characterised by the increased excretion of misfolding protein, attracted by a Diazo dye denominated ...Angeles Vázquez, María de Jesús, Angeles Vázquez, María de Jesús, Fuentes Gutiérrez, Erika Karina, Fuentes Gutiérrez, Erika Karina, Mendieta Zerón, Hugo, Mendieta Zerón, Hugo, RODRIGUEZ CHAVEZ, JOSE LUIS, RODRIGUEZ CHAVEZ, JOSE LUIS +7 morecore Serum α1-AT Levels and SERPINA1 Molecular Analysis in Breast Cancer: An Experimental and Computational Study
DiseasesBackground/Objectives: Breast cancer (BC) is a heterogeneous disease with multifactorial origins, including environmental, genetic, and immunological factors.Guadalupe Ávalos-Navarro, Luis A. Bautista-Herrera, Asbiel Felipe Garibaldi-Ríos, Ramiro Ramírez-Patiño, Marisol Gutiérrez-García, Perla Briseño-Álvarez, Luis Felipe Jave-Suárez, Emmanuel Reyes-Uribe, Martha Patricia Gallegos-Arreola +8 moredoaj +1 more sourceMicroarray Analysis of PBMC after Plasmodium falciparum Infection: Molecular Insights into Disease Pathogenesis [PDF]
, 2011 Our laboratory’s previous microarray analysis of subjects with Plasmodium falciparum revealed up-regulation of Toll-like receptor, NF-kB, TNF-α, IFN-γ, IL-1β, p38 MAPK, and MHC molecules.Alan Scott, Anne Jedlicka, August Louis Bourgeois, Nathan Wolfe, Sher Singh, Wan-Chung(Wan-Jiung) Hu +5 morecore +1 more sourceAssociation studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. [PDF]
, 2019 Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11.23andMe Research Team, Bjornsdottir, Gyda, Boardman, Jason D, Boehnke, Michael, Boomsma, Dorret I, Brazel, David M, Chen, Chu, Chen, Fang, Choquet, Hélène, Cucca, Francesco, Datta, Gargi, Davies, Gareth E, Davila-Velderrain, Jose, Docherty, Anna R, Eaton, Charles B, Ehringer, Marissa A, Esko, Tõnu, Faul, Jessica D, Fiorillo, Edoardo, Foerster, Johanna R, Fritsche, Lars G, Gabrielsen, Maiken Elvestad, Gillespie, Nathan A, Gordon, Scott D, Gudbjartsson, Daniel F, Haessler, Jeffrey, Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C, Hewitt, John K, Hickie, Ian B, Hokanson, John E, Hopfer, Christian J, Hottenga, Jouke-Jan, Huang, Hongyan, HUNT All-In Psychiatry, Hunter, David J, Iacono, William G, Jang, Seon-Kyeong, Jansen, Philip R, Jiang, Yu, Johnson, Eric O, Kamatani, Yoichiro, Kardia, Sharon LR, Keller, Matthew C, Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S, Laakso, Markku, Li, Yue, Lind, Penelope A, Ling, Yueh, Liu, Mengzhen, Loukola, Anu, Lutz, Sharon M, Madden, Pamela AF, Martin, Nicholas G, Matoba, Nana, McGue, Matt, McGuire, Daniel, McMahon, George, McQueen, Matthew B, Medland, Sarah E, Metspalu, Andres, Mohlke, Karen L, Mulas, Antonella, Mägi, Reedik, Nielsen, Jonas B, Okada, Yukinori, Orrù, Valeria, Palviainen, Teemu, Pandit, Anita, Peters, Ulrike, Polderman, Tinca JC, Posthuma, Danielle, Reginsson, Gunnar W, Reiner, Alexander P, Rice, John P, Rimm, Eric, Rose, Richard J, Runarsdottir, Valgerdur, Skogholt, Anne Heidi, Smith, Jennifer A, Stallings, Michael C, Stančáková, Alena, Stefansson, Hreinn, Taylor, Amy E, Thai, Khanh K, Tian, Chao, Tindle, Hilary A, Turman, Constance, Wedow, Robbee, Willemsen, Gonneke, Young, Hannah, Young, Kendra A, Zajac, Gregory JM, Zhan, Xiaowei, Zhao, Wei, Zhou, Wei +99 morecore