Results 61 to 70 of about 11,907 (228)

Misfolding linked mutations of SERPINA1 gene are uncommon in preeclampsia

Archives of Medicine and Health Sciences, 2019
Background: Alpha-1 antitrypsin (A1AT) is a protease inhibitor that plays an important role in regulating oxidative stress in preeclampsia (PE). Recent studies have shown that A1AT is misfolded in PE.
Chandrakala Nagarajappa, Sheela Shikaripur Rangappa, Sharath Balakrishna   +2 more
doaj   +1 more source

Identification of Pharmacological Autophagy Regulators of Active Ulcerative Colitis

Frontiers in Pharmacology, 2021
Background: Ulcerative colitis (UC) is a chronic recurrent disease of unknown etiology. Recently, it has been reported that autophagy-related gene polymorphism is closely associated with increased risk of UC, and the therapeutic effect of some UC drugs ...
Peishan Qiu, Peishan Qiu, Lan Liu, Lan Liu, Jun Fang, Jun Fang, Meng Zhang, Meng Zhang, Haizhou Wang, Haizhou Wang, Yanan Peng, Yanan Peng, Min Chen, Min Chen, Jing Liu, Jing Liu, Fan Wang, Fan Wang, Qiu Zhao, Qiu Zhao   +19 more
doaj   +1 more source

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12. [PDF]

, 2016
Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants.To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated with the risk of COPD and severity of
Andrew J Wardlaw, Antoinette Amuzu, Avan A Sayer, Bethan Barker, Blair H Smith, Caroline Dale, Castaldi, Charlotte E Bolton, Cho, Chris Brightling, Colin N A Palmer, Cyrus Cooper, Dahl, David J Porteous, David P Strachan, Elaine M Dennison, Goldstein, Hancock, Hankinson, Haq, Hsu, Hunninghake, Ian P Hall, Ian Sayers, Ioanna Ntalla, John W Holloway, Jorgen Engmann, Juan-Pablo Casas, Kathleen E Stirrups, Kim, Liu, Louise V Wain, Lynne Hocking, Mahajan, Martin D Tobin, Martin J Connolly, Matthies, Mayer, McKay, Meena Kumari, Michelle E John, Minkyoung Choi, Miriam F Moffat, Molloy, Mona Bafadhel, Noor Kalsheker, Panos Deloukas, Peter Whincup, Pillai, Purcell, Rabe, Repapi, Richard Morris, Roger Tavendale, Sally Chappell, Sandosh Padmanabhan, Soler Artigas, Soler Artigas, Stuart G Parker, Tamar Guetta-Baranes, Ternette, The Tobacco and Genetics Consortium, Thorgeirsson, Thun, Tricia M McKeever, Uhlen, Victoria E Jackson, Wain, Walter, Wild, Wilk, Wilk   +71 more
core   +12 more sources

Impact of Saharan Dust and SERPINA1 Gene Variants on Bacterial/Fungal Balance in Asthma Patients

International Journal of Molecular Sciences
The Canary Islands, a region with high asthma prevalence, are frequently exposed to Saharan Dust Intrusions (SDIs), as are a wide range of countries in Europe. Alpha-1 antitrypsin (SERPINA1 gene) regulates the airway’s inflammatory response.
Ainhoa Escuela-Escobar, J. Pérez-García, E. Martín-González, Cristina González Martín, J. M. Hernández-Pérez, Ruperto González Pérez, Inmaculada Sánchez Machín, Paloma Poza Guedes, E. Mederos-Luis, M. Pino-Yanes, F. Lorenzo-Diaz, M. G. González Carracedo, J. A. P. Pérez Pérez   +12 more
semanticscholar   +1 more source

Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma

Respirology Case Reports, 2022
Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and ...
Marina Aiello, Annalisa Frizzelli, Laura Marchi, Ilaria Ferrarotti, Davide Piloni, Giovanna Pelà, Alessandro De Simoni, Lorenzo D'Aloisio, Luigino Calzetta, Alfredo Chetta   +9 more
doaj   +1 more source

Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease.

PLoS Genetics, 2021
α1-anti-trypsin (A1AT), encoded by SERPINA1, is a neutrophil elastase inhibitor that controls the inflammatory response in the lung. Severe A1AT deficiency increases risk for Chronic Obstructive Pulmonary Disease (COPD), however, the role of A1AT in COPD
Lela Lackey, Aaztli Coria, Auyon J Ghosh, Phil Grayeski, Abigail Hatfield, Vijay Shankar, John Platig, Zhonghui Xu, Silvia B V Ramos, Edwin K Silverman, Victor E Ortega, Michael H Cho, Craig P Hersh, Brian D Hobbs, Peter Castaldi, Alain Laederach   +15 more
doaj   +1 more source

Extracellular matrix defects in aneurysmal Fibulin-4 mice predispose to lung emphysema [PDF]

, 2014
Background: In this study we set out to investigate the clinically observed relationship between chronic obstructive pulmonary disease (COPD) and aortic aneurysms. We tested the hypothesis that an
Dzyubachyk, O.M. (Oleh), Essers, J. (Jeroen), Hawinkels, L.J.A.C. (Lukas ), Heijningen, P.M. (Paula ) van, Hendriks, R.W. (Rudi), Kanaar, R. (Roland), Kleinjan, A. (Alex), Luijtgaarden, K.M. (Koen) van de, Meijering, H.W. (Erik), Munck, A. (Anne) de, Nimwegen, M. (Menno) van, Pluijm, I. (Ingrid) van der, Ramnath, N.W.M. (Natasja ), Ridwan, R.Y. (Ruziedi Y.), Rottier, R.J. (Robbert), Rouwet, E.V. (Ellen), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Thiel, B.S. (Bibi) van, Vermeij, M. (Marcel), Vliet, N. (Nicole) van, Yanagisawa, J.   +21 more
core   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis

International Journal of COPD, 2020
Martina Veith,1 Julia Tüffers,1 Erika Peychev,1 Andreas Klemmer,1 Viktor Kotke,1 Sabina Janciauskiene,2 Susanne Wilhelm,1 Robert Bals,3 Andreas Rembert Koczulla,4 Claus Franz Vogelmeier,1 Timm Greulich1 1Department of Medicine, Pulmonary and ...
Veith M, Tüffers J, Peychev E, Klemmer A, Kotke V, Janciauskiene S, Wilhelm S, Bals R, Koczulla AR, Vogelmeier CF, Greulich T   +10 more
doaj  

Description of 22 new alpha-1 antitrypsin genetic variants

Orphanet Journal of Rare Diseases, 2018
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury.
Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck, Philippe Joly   +10 more
doaj   +1 more source