Results 141 to 150 of about 11,907 (228)

SERPINA1 Gene [PDF]

, 2020
openaire   +1 more source

Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0RİZE

BMC Pulmonary Medicine
Background Alpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil elastase in lung tissue.
Dilek Karadoğan, Ünal Şahin, Bettina Dreger, Laura Grandoso, Lourdes Osaba   +4 more
doaj   +1 more source

Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal [PDF]

, 2012
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide.
Barreto da Silva, Marta, Beleza, Álvaro, Bourbon, Mafalda, Dias, Carlos Matias, Fernandes, Aida, Gaio, Vânia, Gil, Ana Paula, Horta Correia, Filomena, Mendonça, Francisco, Vicente, A.M.   +9 more
core  

An association study of SERPINA1 gene polymorphisms with the risk of metabolic dysfunction-associated steatotic liver disease In an Iranian population: A preliminary case-control study

Biochemistry and Biophysics Reports
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a type of fat accumulation in the liver that can lead to cirrhosis and chronic liver disease.
Samira Abdollahi, Abbas Sahebghadam Lotfi, Ramin Saravani, Hamed Taheri   +3 more
doaj   +1 more source

Serpin peptidase inhibitor, clade A (SERPINA1) [PDF]

Science-Business eXchange, 2009
openaire   +1 more source

Association 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 more
core  

Resistance Heterogeneity and Small Airway Asthma Phenotype [PDF]

, 2019
Kuo, Chris, Lipworth, Brian
core   +3 more sources

超声血流成像结合血清SERPINA1、IFITM1在鉴别子宫肌瘤与子宫腺肌症中的应用价值

Zhongguo shiyan zhenduanxue
目的探究超声血流成像结合血清丝氨酸蛋白酶抑制剂A1（SERPINA1）、干扰素诱导跨膜蛋白1（IFITM1）在鉴别子宫肌瘤与子宫腺肌症中的应用价值。方法选取2021年12月至2022年12月在齐齐哈尔市中医医院经病理确诊的子宫肌瘤患者120例与子宫腺肌症患者90例以及同期健康体检女性60例。所有研究对象均接受经阴道彩色多普勒超声检查。记录子宫及病灶（子宫肌瘤组、子宫腺肌症组）内部及周边，子宫相应区域的收缩期峰值血流速度（PSV）、阻力指数（RI）及搏动指数（PI ...
刘柏, 周苗苗, 李古月, 张红秋
doaj  

RNA editing for the treatment of alpha-1 antitrypsin deficiency. [PDF]

Nucleic Acids Res
Monian P, Shivalila C, Lu G, Bowman K, Briem S, Bylsma M, Byrne M, Cannon M, Chatterjee A, Dallaire M, Desai J, Dufresne J, Faraone A, Favaloro F, Friend S, Ghosh A, Godfrey J, Hernandez N, Huth O, Iwamoto N, Kawamoto T, Lamattina A, Lemaitre M, Lindsey A, Liu F, Looby R, Luu K, McGlynn A, Metterville J, Paik IH, Pan Q, Patil S, Pu T, Purcell-Estabrook E, Ranade A, Rheinhardt J, Rossi J, Shimizu M, Singh K, Standley S, Thomas C, Tripathi S, Yang H, Yordanoff R, Yin Y, Yu H, Narayanan P, Kandasamy P, Giangrande PH, Vargeese C.   +49 more
europepmc   +1 more source

Complement and Coagulation Cascades Pathway was Inactivated in HIV-Associated Colorectal Cancer: Results from a Proteomics Study. [PDF]

J Cancer
Lian S, Li L, Yang Y, Liu S, Song S, Zhang L.   +5 more
europepmc   +1 more source