Results 11 to 20 of about 2,909,495 (269)

Pi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4-Independent Enhancer. [PDF]

Hum Mutat
Alpha‐1 antitrypsin deficiency (AATD) is a genetic disorder caused by specific variants in the SERPINA1 gene, which encodes AAT. The most common disease‐associated SERPINA1 variants are Pi ∗ S and Pi ∗ Z alleles, which cause moderate and severe AATD, respectively. Recent studies have reported the presence of a possible regulator of SERPINA gene cluster
Escuela-Escobar A, Herrera-Luis E, Martín-González E, Hernández-Pérez JM, González Carracedo MA, Pérez JAP.   +5 more
europepmc   +4 more sources

The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study. [PDF]

Medicine (Baltimore), 2017
Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected ...
Al-Jameil N, Hassan AA, Hassanato R, Isac SR, Otaiby MA, Al-Shareef F, Al-Maarik B, Ajeyan IA, Al-Bahloul K, Ghani S, Al-Torbak D.   +10 more
europepmc   +3 more sources

Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin. [PDF]

Int J Mol Sci, 2023
Different mutations in the SERPINA1 gene result in alpha-1 antitrypsin (AAT) deficiency and in an increased risk for the development of liver diseases. More than 90% of severe deficiency patients are homozygous for Z (Glu342Lys) mutation.
Pérez-Luz S, Lalchandani J, Matamala N, Barrero MJ, Gil-Martín S, Saz SR, Varona S, Monzón S, Cuesta I, Justo I, Marcacuzco A, Hierro L, Garfia C, Gomez-Mariano G, Janciauskiene S, Martínez-Delgado B.   +15 more
europepmc   +2 more sources

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

Pulmonology
Introduction and objectives Asthma is a chronic inflammatory disease of the airways. Asthma patients may experience potentially life-threatening episodic flare-ups, known as exacerbations, which may significantly contribute to the asthma burden. The Pi*S
Elena Martín-González, José M. Hernández-Pérez, José A. Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J. Cruz, Francisco J. González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M. Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A. González-Carracedo   +27 more
doaj   +6 more sources

PI S and PI Z Alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data

Monaldi Archives for Chest Disease, 2016
Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects.
F.J. de Serres, I. Blanco, E. Fernández-Bustillo   +2 more
doaj   +3 more sources

Search for Z(c)(3900)(+/-) -> omega pi(+/-) [PDF]

, 2015
The decay Z(c)(3900)(+/-) -> omega pi(+/-) is searched for using data samples collected with the BESIII detector operating at the BEPCII storage ring at center-of-mass energies root s = 4.23 and 4.26 GeV.

core   +5 more sources

Integral representation of vertical operators on the Bergman space over the upper half-plane

Comptes Rendus. Mathématique, 2023
Let $\Pi $ denote the upper half-plane. In this article, we prove that every vertical operator on the Bergman space $\mathcal{A}^2(\Pi )$ over the upper half-plane can be uniquely represented as an integral operator of the form \begin{equation*} \left ...
Bais, Shubham R., Venku Naidu, D., Mohan, Pinlodi   +2 more
doaj   +1 more source

Risk factors for symptom onset in PI*Z alpha-1 antitrypsin deficiency [PDF]

International Journal of COPD, 2006
In an early study of highly symptomatic patients with PI*Z alpha-1 antitrypsin deficiency (AAT), tobacco smoking was identified as a risk factor by comparing the age of symptom onset in smokers and nonsmokers. Age of symptom onset has not been well studied in relationship to other environmental exposures.Environmental exposures were assessed in 313 PI ...
Annyce S, Mayer, James K, Stoller, Sverre, Vedal, A James, Ruttenber, Matt, Strand, Robert A, Sandhaus, Lee S, Newman   +6 more
openaire   +2 more sources

Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis [PDF]

Gut, 2018
Objective Homozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we evaluated the impact of the two most relevant AAT variants (‘Pi*Z’ and ‘Pi*S’), present in up to 10% of Caucasians, on subjects with non ...
Strnad, Pavel, Buch, Stephan, Hamesch, Karim, Fischer, Janett, Rosendahl, Jonas, Schmelz, Renate, Brueckner, Stefan, Brosch, Mario, Heimes, Carolin V., Woditsch, Vivien, Scholten, David, Nischalke, Hans Dieter, Janciauskiene, Sabina, Mandorfer, Mattias, Trauner, Michael, Way, Michael J., McQuillin, Andrew, Reichert, Matthias C., Krawczyk, Marcin, Casper, Markus, Lammert, Frank, Braun, Felix, Von Schönfels, Witigo, Hinz, Sebastian, Burmeister, Greta, Hellerbrand, Claus, Teufel, Andreas, Feldman, Alexandra, Schattenberg, Joern M., Bantel, Heike, Pathil, Anita, Demir, Muenevver, Kluwe, Johannes, Boettler, Tobias, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael, Rietschel, Marcella, Kiefer, Falk, Weber, Thomas, Marhenke, Silke, Vogel, Arndt, Hinrichsen, Holger, Canbay, Aliekber, Schlattjan, Martin, Sosnowsky, Katharina, Sarrazin, Christoph, Von Felden, Johann, Geier, Andreas, Deltenre, Pierre, Sipos, Bence, Schafmayer, Clemens, Nothnagel, Michael, Aigner, Elmar, Datz, Christian, Stickel, Felix, Morgan, Marsha Yvonne, Hampe, Jochen, Berg, Thomas, Trautwein, Christian   +59 more
openaire   +10 more sources

Pionic transitions from $$Z_c(4020)$$ Z c ( 4020 ) to D wave charmonia

European Physical Journal C: Particles and Fields, 2023
In the present work, we investigate the charmed meson loops contributions to the pionic transitions from $$Z_c(4020)^+$$ Z c ( 4020 ) + to the D wave triplets charmonia by using an effective Lagrangian approach.
Xiao-Yu Qi, Qi Wu, Dian-Yong Chen
doaj   +1 more source