Results 81 to 90 of about 6,824 (156)

Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

open access: yesPLoS Genetics, 2012
Association testing of multiple correlated phenotypes offers better power than univariate analysis of single traits. We analyzed 6,600 individuals from two population-based cohorts with both genome-wide SNP data and serum metabolomic profiles.
Michael Inouye   +19 more
doaj   +1 more source

Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene

open access: yesPLOS 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   +10 more
openaire   +8 more sources

Accurate Indentification of Pathogenic Mutations Conferring α1-Antitrypsin Deficiency by a Novel Multiplexed Molecular AssayTake-home Points

open access: yesCHEST Pulmonary
Background: 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   +12 more
doaj   +1 more source

Serum α1-AT Levels and SERPINA1 Molecular Analysis in Breast Cancer: An Experimental and Computational Study

open access: yesDiseases
Background/Objectives: Breast cancer (BC) is a heterogeneous disease with multifactorial origins, including environmental, genetic, and immunological factors.
Guadalupe Ávalos-Navarro   +8 more
doaj   +1 more source

Interactions between single nucleotide polymorphism of SERPINA1 gene and smoking in association with COPD: a case–control study

open access: yesInternational Journal of COPD, 2017
Xiaowei Deng,1 Cun-hua Yuan,1 De Chang2 1Health Medical Center, 2Department of Respiratory Medicine, General Hospital of Chinese People’s Armed Police Forces, Beijing, People’s Republic of China Background: SERPINA1 gene has been implicated
Deng XW, Yuan CH, Chang D
doaj  

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

open access: yesBMC 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   +4 more
doaj   +1 more source

Serpina1e mediates the exercise-induced enhancement of hippocampal memory

open access: yes
Abstract The exercise-induced enhancement of learning and memory is thought to be regulated by body‒brain interactions via secretory proteins in the blood plasma1,2. Given the prominent role that skeletal muscle plays during exercise, the beneficial effects of exercise on cognitive functions appear to be mediated by muscle-derived secretory ...
Hyungju Park   +4 more
openaire   +1 more source

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