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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
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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
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The Gm‐Pi linkage in 843 French families: effect of the alleles Pi Z and Pi S
Annals of Human Genetics, 1990SUMMARYLinkage 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 +4 more
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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
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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
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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
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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 +10 more
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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 +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, 1986To 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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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
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Theoretical and Applied Genetics, 2003
Rice blast, caused by the fungal pathogen Pyricularia grisea, is a serious disease affecting rice-growing regions around the world. Current methods for identification of blast-resistant germplasm and progeny typically utilize phenotypic screening. However, phenotypic screens are influenced by environmental conditions and the presence of one resistance ...
C A, Conaway-Bormans +4 more
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Rice blast, caused by the fungal pathogen Pyricularia grisea, is a serious disease affecting rice-growing regions around the world. Current methods for identification of blast-resistant germplasm and progeny typically utilize phenotypic screening. However, phenotypic screens are influenced by environmental conditions and the presence of one resistance ...
C A, Conaway-Bormans +4 more
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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.
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