Results 1 to 10 of about 232,718 (227)

The unfolded protein response to PI*Z alpha‐1 antitrypsin in human hepatocellular and murine models [PDF]

Hepatology Communications, 2022
Alpha‐1 antitrypsin (AAT) deficiency (AATD) is an inherited disease caused by mutations in the serpin family A member 1 (SERPINA1, also known as AAT) gene.
Yuanqing Lu, Liqun R. Wang, Jungnam Lee, Naweed S. Mohammad, Alek M. Aranyos, Calvin Gould, Nazli Khodayari, Regina A. Oshins, Craig G. Moneypenny, Mark L. Brantly   +9 more
doaj   +4 more sources

Berberine potentiates liver inflammation and fibrosis in the PI*Z hAAT transgenic murine model. [PDF]

PLoS ONE
BackgroundAlpha-1 antitrypsin deficiency (AATD) is an inherited disease, the common variant caused by a Pi*Z mutation in the SERPINA1 gene. Pi*Z AAT increases the risk of pulmonary emphysema and liver disease.
Yuanqing Lu, Naweed S Mohammad, Jungnam Lee, Alek M Aranyos, Karina A Serban, Mark L Brantly   +5 more
doaj   +4 more sources

Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update [PDF]

International Journal of COPD, 2017
Ignacio Blanco,1 Patricia Bueno,2 Isidro Diego,3 Sergio Pérez-Holanda,4 Francisco Casas-Maldonado,5 Cristina Esquinas,6 Marc Miravitlles6,7 1Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Fundación Respira, Spanish Society of ...
Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, Miravitlles M   +6 more
doaj   +10 more sources

Alpha-1 antitrypsin Pi∗Z allele is an independent risk factor for liver transplantation and death in patients with advanced chronic liver disease [PDF]

JHEP Reports, 2022
Background & Aims: Alpha-1 antitrypsin (AAT) deficiency causes/predisposes individuals to advanced chronic liver disease (ACLD). However, the role of the SERPINA1 Pi∗Z allele in patients who have already progressed to ACLD is unclear.
Lorenz Balcar, Bernhard Scheiner, Markus Urheu, Patrick Weinberger, Rafael Paternostro, Benedikt Simbrunner, Lukas Hartl, Mathias Jachs, David Bauer, Georg Semmler, Claudia Willheim, Matthias Pinter, Peter Ferenci, Michael Trauner, Thomas Reiberger, Albert Friedrich Stättermayer, Mattias Mandorfer   +16 more
doaj   +2 more sources

Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease. [PDF]

Hepatol Commun, 2021
The serpin family A member 1 (SERPINA1) Z allele is present in approximately one in 25 individuals of European ancestry. Z allele homozygosity (Pi*ZZ) is the most common cause of alpha 1‐antitrypsin deficiency and is a proven risk factor for cirrhosis.
Hakim A, Moll M, Qiao D, Liu J, Lasky-Su JA, Silverman EK, Vilarinho S, Jiang ZG, Hobbs BD, Cho MH.   +9 more
europepmc   +4 more sources

Alpha-1 Antitrypsin Z Variant (AAT PI*Z) as a Risk Factor for Intrahepatic Cholestasis of Pregnancy. [PDF]

Front Genet, 2021
Background: Intrahepatic cholestasis of pregnancy (ICP; prevalence 0.2–15.6%) is the most common pregnancy-related liver disorder. It may have serious consequences for a pregnancy, including increased risk of preterm delivery, meconium staining of amniotic fluid, fetal bradycardia, distress, and fetal demise.
Kosinski P, Kedzia M, Mostowska A, Gutaj P, Lipa M, Wender-Ozegowska E, Rozy A, Chorostowska-Wynimko J, Wielgos M, Jezela-Stanek A.   +9 more
europepmc   +5 more sources

Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. [PDF]

Eur Clin Respir J, 2015
The prevalence of PI*Z and PI*S alleles of SERPINA1 gene related to alpha-1-antitrypsin deficiency has previously been estimated to be lower in Finland than in the other countries of Northern Europe. The prevalence of PI*M (Malton) has not been studied in Finland before. We determined alpha-1-antitrypsin PI*Z and PI*S and PI*M (Malton) genotypes from a
Häggblom J, Kettunen K, Karjalainen J, Heliövaara M, Jousilahti P, Saarelainen S.   +5 more
europepmc   +5 more sources

Mild Iron Overload as Seen in Individuals Homozygous for the Alpha-1 Antitrypsin Pi*Z Variant Does Not Promote Liver Fibrogenesis in HFE Knockout Mice [PDF]

Cells, 2019
The presence of the homozygous ‘Pi*Z’ variant of alpha-1 antitrypsin (AAT) (‘Pi*ZZ’ genotype) predisposes to liver fibrosis development, but the role of iron metabolism in this process remains unknown.
Nurdan Guldiken, Karim Hamesch, Shari Malan Schuller, Mahmoud Aly, Cecilia Lindhauer, Carolin V. Schneider, Malin Fromme, Christian Trautwein, Pavel Strnad   +8 more
doaj   +2 more sources

Association of Alpha-1 Antitrypsin Pi*Z Allele Frequency and Progressive Liver Fibrosis in Two Chronic Hepatitis C Cohorts. [PDF]

J Clin Med, 2022
(1) Background: The inherited alpha-1 antitrypsin (A1AT) deficiency variant ‘Pi*Z’ emerged as a genetic modifier of chronic liver disease. Controversial data exist on the relevance of heterozygous Pi*Z carriage (‘Pi*MZ’ genotype) as an additional risk factor in patients with chronic viral hepatitis C to develop progressive liver fibrosis.
Mücke VT, Fischer J, Mücke MM, Teumer A, Koch A, Vermehren J, Fromme M, Zeuzem S, Trautwein C, Sarrazin C, Berg T, Zhou B, Hamesch K.   +12 more
europepmc   +4 more sources

Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis. [PDF]

World J Hepatol
BACKGROUND Alpha-1 antitrypsin deficiency (AATD) is a codominant autosomal hereditary condition that predisposes patients to the development of lung and/or liver disease, and Pi*Z allele is the most clinically relevant mutation. AIM To evaluate the impact of clinical parameters and AATD phenotypes, particularly the Pi*Z ...
Ferreira AI, Guimarães C, Macedo Silva V, Xavier S, Magalhães J, Cotter J.   +5 more
europepmc   +3 more sources