Results 201 to 210 of about 232,718 (227)
Some of the next articles are maybe not open access.
Age of SERPINA1 Gene PI Z Mutation: Swedish and Latvian Population Analysis
Annals of Human Genetics, 2008SummaryAlpha 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 +4 more
openaire +2 more sources
Occupational Exposure Risks in Individuals with PI*Z α1-Antitrypsin Deficiency
American Journal of Respiratory and Critical Care Medicine, 2000We obtained questionnaire and spirometry data from 128 alpha(1)-antitrypsin (alpha(1)AT)-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 +5 more
openaire +2 more sources
Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis
European Journal of Gastroenterology & Hepatology, 2014The 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 +4 more
openaire +2 more sources
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 +2 more
openaire +2 more sources
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 +2 more
openaire +2 more sources
Liver Function in Asymptomatic Adult Individuals with Severe α1-Antitrypsin Deficiency (Pi Z)
Scandinavian Journal of Gastroenterology, 1977Eleven 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
openaire +2 more sources
Alpha-1-Antitrypsin (PI) Polymorphism in France, with Special Regard to the PI*Z Allele
Human Heredity, 1991Alpha-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
Natural History and Life Expectancy in Severe Alpha1‐Antitrypsin Deficiency, Pi Z
Acta Medica Scandinavica, 1978ABSTRACT. Clinical data from 246 adult Swedish individuals with severe α1‐antitrypsin deficiency, Pi Z, diagnosed in 1963‐77, were analyzed. Primary emphysema was present in 109 cases. Of 75 Pi Z patients with other types of chronic obstructive pulmonary disease (COPD), all but 7 showed signs of emphysema.
openaire +2 more sources
Nature, 1985
The alpha 1-protease inhibitor, or alpha-antitrypsin (AAT), a major plasma inhibitor of leukocyte elastase and bacterial proteases, is encoded at the PI locus on chromosome 14 (14q24.3-q32.1). A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early ...
D W, Cox, S L, Woo, T, Mansfield
openaire +2 more sources
The alpha 1-protease inhibitor, or alpha-antitrypsin (AAT), a major plasma inhibitor of leukocyte elastase and bacterial proteases, is encoded at the PI locus on chromosome 14 (14q24.3-q32.1). A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early ...
D W, Cox, S L, Woo, T, Mansfield
openaire +2 more sources
Segregation distortion of the alpha 1-antitrypsin Pi Z allele.
American journal of human genetics, 1979alpha 1-antitrypsin (alpha 1AT) of the Pi type Z is associated with two diseases: pulmonary emphysema and cirrhosis of the liver. We report 23 families with both parents heterozygous for the PiZ allele, characterized from our own analysis and from world literature sources. All families were identified through members expressing disease.
R M, Iammarino, D K, Wagener, R C, Allen
openaire +1 more source
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
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