Results 81 to 90 of about 10,966 (204)

SERPINA1 methylation and lung function in tobacco-smoke exposed European children and adults: a meta-analysis of ALEC population-based cohorts

Respiratory Research, 2018
Background The pathophysiological role of SERPINA1 in respiratory health may be more strongly determined by the regulation of its expression than by common genetic variants.
Anna Beckmeyer-Borowko, Medea Imboden, Faisal I. Rezwan, Matthias Wielscher, Andre F. S. Amaral, Ayoung Jeong, Emmanuel Schaffner, Juha Auvinen, Sylvain Sebert, Ville Karhunen, Robert Bettschart, Alexander Turk, Marco Pons, Daiana Stolz, Florian Kronenberg, Ryan Arathimos, Gemma C. Sharp, Caroline Relton, Alexander J. Henderson, Marjo-Riitta Jarvelin, Deborah Jarvis, John W. Holloway, Nicole M. Probst-Hensch   +22 more
doaj   +1 more source

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source

miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease

Archivos de Bronconeumología, 2021
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition resulting in lung and liver disease with a great clinical variability. MicroRNAs have been identified as disease modifiers; therefore miRNA deregulation could play an important role in disease heterogeneity.
Matamala, Nerea, Lara, Beatriz, Gomez-Mariano, Gema Maria, Martinez Rodríguez, Selene, Vazquez-Dominguez, Irene, Otero-Sobrino, Álvaro, Muñoz-Callejas, Antonio, Sánchez, Elena, Esquinas, Cristina, Bustamante, Ana, Cadenas, Sergio, Curi, Sergio, Lázaro, Lourdes, Martínez, María Teresa, Rodríguez, Esther, Miravitlles, Marc, Torres-Durán, María, Herrero, Inés, Michel, Francisco Javier, Castillo, Silvia, Hernández-Pérez, José Mª, Blanco, Ignacio, Casas, Francisco, Martinez-Delgado, Beatriz   +23 more
openaire   +7 more sources

Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center

Respiratory Medicine Case Reports, 2021
Alpha 1 Antitrypsin Deficiency (AATD) is a rare condition primarily associated with lung complications and liver disease. As disease symptoms are similar to those in other respiratory conditions, patients generally experience long delays before receiving
Friedrich Kueppers
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +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

Decellularized Aged Bruch's Membrane Confers Unique Biochemical Cues to Retinal Pigment Epithelium for In Vitro Modeling of Age‐Related Macular Degeneration

Aging Cell, Volume 25, Issue 5, May 2026.
A Bruchs membrane (BrM) mimic based on aged decellularized BrM was developed and differentially expressed proteins in aged dECM‐BrM that may provide specific biochemical cues fundamental to model AMD in vitro were identified. RPE culture on aged dECM‐BrM developed certain AMD‐like features including reduced TEER and expression of drusen components ...
Blanca Molins, Mercedes Soledad Nabaes Jodar, Eliandre de Oliveira, Josep Maria Estanyol, Esther Peña, Jaione Bezunartea, María Hernández, Marc Figueras‐Roca, Alfredo Adan   +8 more
wiley   +1 more source

Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

The Journal of Molecular Diagnostics
α-1 Antitrypsin (AAT) is an acute-phase reactant with immunomodulatory properties that mainly inhibits neutrophil elastase. Low serum levels cause AAT deficiency (AATD), an underdiagnosed condition that predisposes to pulmonary and hepatic diseases. The SERPINA1 gene, which encodes AAT, contains >500 variants.
Mario A. González-Carracedo, Esther Herrera-Luis, María Marco-Simancas, Ainhoa Escuela-Escobar, Elena Martín-González, Olaia Sardón-Prado, Paula Corcuera, Jose M. Hernández-Pérez, Fabián Lorenzo-Díaz, José A. Pérez-Pérez   +9 more
openaire   +3 more sources

Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology

International Journal of COPD, 2019
Martina Veith,1 Andreas Klemmer,1 Iker Anton,2 Rachid El Hamss,2 Noelia Rapun,2 Sabina Janciauskiene,3 Viktor Kotke,1 Christian Herr,4 Robert Bals,4 Claus Franz Vogelmeier,1 Timm Greulich1 1Department of Medicine, Pulmonary and Critical Care Medicine ...
Veith M, Klemmer A, Anton I, El Hamss R, Rapun N, Janciauskiene S, Kotke V, Herr C, Bals R, Vogelmeier CF, Greulich T   +10 more
doaj  

An antibody that prevents serpin polymerisation acts by inducing a novel allosteric behavior [PDF]

, 2016
Serpins are important regulators of proteolytic pathways with an antiprotease activity that involves a conformational transition from a metastable to a hyperstable state. Certain mutations permit the transition to occur in the absence of a protease; when
Faull, Sarah V., Haq, Imran, Heyer Chauhan, Narinder, Irving, James A., Jagger, Alistair M., Kay, Christopher W. M., Liedtke, Maximilian, Lomas, David A., MIRANDA BANOS, MARIA ELENA, Motamedi Shad, Neda, Nanda, Arjun Scott, Ordóñez, Adriana, Perez, Juan, Salvadori, Enrico, Wort, Joshua L.   +14 more
core   +1 more source