Results 71 to 80 of about 10,821 (196)

Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

open access: yesGenetics and Molecular Biology, 2008
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S
Guilherme Baldo   +11 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]

open access: yes, 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   +71 more
core   +12 more sources

The Alpha‐1 Pi*MZ Genotype Is an Independent Risk Factor for Hepatocellular Carcinoma Development in Patients With ACLD

open access: yesAlimentary Pharmacology &Therapeutics, EarlyView.
Alpha‐1 antitrypsin deficiency is a genetic disease that affects the lungs and the liver. The role of the heterozygous genetic defect in the development of liver cancer in patients with cirrhosis is unclear. Our study found that carrying the Pi*MZ genotype increases the risk of developing liver cancer.
Lorenz Balcar   +18 more
wiley   +1 more source

CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans [PDF]

open access: yes, 2019
Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy.
Buland, Justin R   +14 more
core   +3 more sources

The Role of Oxidative Stress in Periodontitis

open access: yesJournal 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   +3 more
wiley   +1 more source

Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study

open access: yesInternational Journal of COPD, 2020
Gloria Pérez-Rubio,1 Enrique Ambrocio-Ortiz,1 Luis A López-Flores,1 Ana I Juárez-Martín,2 Luis Octavio Jiménez-Valverde,1 Susana Zoreque-Cabrera,1 Gustavo Galicia-Negrete,1 María Elena Ramírez-Díaz ...
Pérez-Rubio G   +13 more
doaj  

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

open access: yesRespiratory 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   +22 more
doaj   +1 more source

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

open access: yesRespiratory 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

Biomarkers for diagnosis of pre-eclampsia and endometriosis [PDF]

open access: yes, 2018
Gynecological disorders are leading public health problems in developing countries with substantial impact on women's quality of life. Significant proportion of maternal mortality and reproductive morbidity is attributed to misdiagnosis ...
Ali, Amjad   +6 more
core   +1 more source

Salivary Proteomic Signatures in Pregnant Women With Excessive Gingival Bleeding

open access: yesOral Diseases, EarlyView.
ABSTRACT Objective This observational, cross‐sectional, and analytical study aimed to explore the pathophysiological mechanisms of gingivitis in pregnancy by analyzing the salivary proteomic profile according to gingival bleeding status. Materials and Methods Pregnant women at the 27th week of gestation or beyond were categorized into two groups: those
Gerson Aparecido Foratori‐Junior   +9 more
wiley   +1 more source

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