Results 241 to 250 of about 2,909,495 (269)

Occupational Exposure Risks in Individuals with PI*Z α1-Antitrypsin Deficiency

American Journal of Respiratory and Critical Care Medicine, 2000
Abstract We obtained questionnaire and spirometry data from 128 α1-antitrypsin (α1AT)-deficient individuals with phenotype PI*Z to examine the relationship between chronic respiratory symptoms, airflow limitation, treatment requirements, and semiquantitative estimates of occupational exposure to dust, fumes, smoke, and gas.
A S, Mayer, J K, Stoller, B, Bucher Bartelson, A, James Ruttenber, R A, Sandhaus, L S, Newman   +5 more
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An Enzyme-Linked Immunosorbent Assay (ELISA) for Quantification of Circulating Pi*Z Alpha1-Antitrypsin Polymers

2023
Enzyme-linked immunosorbent assay (ELISA) is a sensitive immunoassay based on specific antigen-antibody reaction that is used for quantitative/qualitative analysis of various analytes in serum, plasma, saliva, cell and tissue lysates, and urine. ELISAs are typically performed in multi-well plates and depending on the design require coating antibody ...
Sabina, Janciauskiene, Tobias, Welte, Matthias, Lehmann   +2 more
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Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis

European Journal of Gastroenterology & Hepatology, 2014
The degree to which heterozygous forms of alpha-1 antitrypsin (A1AT), principally MZ, causes liver disease is uncertain. If heterozygosity is a relevant cofactor, over-representation in patients with end-stage liver disease would be predicted. We therefore assessed the prevalence and disease-related distribution of A1AT heterozygosity in the largest ...
Tessa M, Cacciottolo, William T H, Gelson, Gerald, Maguire, Susan E, Davies, William J H, Griffiths   +4 more
openaire   +2 more sources

Alpha-1-Antitrypsin (PI) Polymorphism in France, with Special Regard to the PI*Z Allele

Human Heredity, 1991
Alpha-1-antitrypsin (PI) phenotypes were studied in a sample of more than 5,000 individuals from cities throughout France. Special interest was paid to the PI*Z allele whose average frequency, based on the present work plus results from the literature, was 0.0130. This figure was used to estimate the number of PI Z homozygotes in France.
R, Sesboüé, J P, Martin
openaire   +2 more sources

Age of SERPINA1 Gene PI Z Mutation: Swedish and Latvian Population Analysis

Annals of Human Genetics, 2008
SummaryAlpha 1‐antitrypsin (A1AT) deficiency, one of the most common inborn errors of metabolism in Caucasians, is characterized by a low serum concentration of A1AT and a high risk of pulmonary emphysema and liver disease. The allelic frequency for the most common protease inhibitor (PI) Z mutation in the SERPINA1 gene is 2–5% in Caucasians of ...
B, Lace, T, Sveger, A, Krams, G, Cernevska, A, Krumina   +4 more
openaire   +2 more sources

The Gm‐Pi linkage in 843 French families: effect of the alleles Pi Z and Pi S

Annals of Human Genetics, 1990
SUMMARYLinkage analysis was performed between Gm and Pi in 843 French families. The overall recombination fraction is equal to025 with a sex difference ratio of 1–4 (recombination fraction of 020 in males and 0–29 in females), confirming previous results in the literature.
M C, Babron, J, Constans, J M, Dugoujon, A, Cambon-Thomsen, C, Bonaïti-Pellié   +4 more
openaire   +2 more sources

Liver Function in Asymptomatic Adult Individuals with Severe α₁-Antitrypsin Deficiency (Pi Z)

Scandinavian Journal of Gastroenterology, 1977
Eleven adult individuals (aged 24 to 66 years) with severe alpha1-antitrypsin deficiency, Pi Z, and with no clinical signs of liver disease, were investigated with a broad spectrum of liver function tests. Except for low alpha1-antitrypsin levels, no evidence of abnormal hepatic protein synthesis was found.
C, Larsson, S, Eriksson
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Pi*S and Pi*Z alpha 1 antitrypsin polymorphism and the risk for asbestosis in occupational exposure to asbestos

Toxicology Letters, 2002
Alpha 1 antitrypsin is a highly polymorphic anti-elastase enzyme, especially active in the protection of alveoli and liver. Here we studied the distribution of two deficient alleles Pi*Z and Pi* S, in 194 asbestos workers, of whom 100 were asbestosis cases, and 94 were controls without disease (exposed controls, EC).
M J, Lafuente, X, Casterad, N, Laso, S, Mas, R, Panades, A, Calleja, S, Hernandez, D, Turuguet, A, Ballesta, C, Ascaso, A, Lafuente   +10 more
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THE Pi Z ALLELE AND AND HEPATIC ALPHA₁‐ANTITRYPSIN GLOBULES IN PATIENTS WITH SECONDARY LIVER CANCER

Acta Pathologica Microbiologica Scandinavica Series A :Pathology, 1986
To evaluate the frequency of false positive globular inclusions, 89 autopsy cases with various malignancies and liver metastases have been examined by immunoperoxidase staining of liver sections and isoelectric focusing of sera. Four subjects with AAT globules in their hepatocytes were found, all of whom had the Pi Z phenotype. Globular inclusions were
I, Reintoft, I, Hägerstrand
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Distribution of α1‐antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta‐analysis

Clinical Genetics, 2001
The objective of the present study was to review published surveys on allelic frequencies S and Z in countries outside Europe to evaluate the validity of the reported data. 
Studies on the topic, published from 1965 to May 2001, were retrieved using MEDLINE and bibliographic reference consultations.
I, Blanco, E F, Bustillo, M C, Rodriguez
openaire   +2 more sources