Chronic obstructive pulmonary disease (Japanese Version)
WW Labaki, SR Rosenberg - Annals of internal medicine, 2020 - acpjournals.org
Disclosures: Dr. Labaki, ACP Contributing Author, reports nonfinancial support from
Pulmonx and personal fees from Konica Minolta outside the submitted work. Dr. Rosenberg …
Pulmonx and personal fees from Konica Minolta outside the submitted work. Dr. Rosenberg …
Alpha1-Antitrypsin Deficiency
P Strnad, NG McElvaney… - New England Journal of …, 2020 - Mass Medical Soc
Alpha1-Antitrypsin Deficiency AAT is a protease inhibitor targeting neutrophil elastase. It
prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT …
prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT …
Fazirsiran for Liver Disease Associated with Alpha1-Antitrypsin Deficiency
P Strnad, M Mandorfer, G Choudhury… - … England Journal of …, 2022 - Mass Medical Soc
Abstract Background Alpha1-antitrypsin (AAT) deficiency results from carriage of a
homozygous SERPINA1 “Z” mutation (proteinase inhibitor [PI] ZZ). The Z allele produces a …
homozygous SERPINA1 “Z” mutation (proteinase inhibitor [PI] ZZ). The Z allele produces a …
α1-Antitrypsin deficiency
Abstract α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …
SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes …
An integrative view of serpins in health and disease: the contribution of SerpinA3
A Sánchez-Navarro, I González-Soria… - … of Physiology-Cell …, 2021 - journals.physiology.org
Serpins are a superfamily of proteins characterized by their common function as serine
protease inhibitors. So far, 36 serpins from nine clades have been identified. These proteins …
protease inhibitors. So far, 36 serpins from nine clades have been identified. These proteins …
α1-antitrypsin deficiency
JK Stoller, LS Aboussouan - The Lancet, 2005 - thelancet.com
Summary α1-antitrypsin deficiency is a genetic disorder that affects about one in 2000–5000
individuals. It is clinically characterised by liver disease and early-onset emphysema …
individuals. It is clinically characterised by liver disease and early-onset emphysema …
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
S Seixas, PI Marques - The application of clinical genetics, 2021 - Taylor & Francis
Abstract Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of
the most prevalent Mendelian disorders among individuals of European descend. However …
the most prevalent Mendelian disorders among individuals of European descend. However …
The tricky connection between extracellular vesicles and mitochondria in inflammatory-related diseases
T Di Mambro, G Pellielo, ED Agyapong… - International Journal of …, 2023 - mdpi.com
Mitochondria are organelles present in almost all eukaryotic cells, where they represent the
main site of energy production. Mitochondria are involved in several important cell …
main site of energy production. Mitochondria are involved in several important cell …
Heterozygous carriage of the alpha1-antitrypsin Pi* Z variant increases the risk to develop liver cirrhosis
P Strnad, S Buch, K Hamesch, J Fischer, J Rosendahl… - Gut, 2019 - gut.bmj.com
Objective Homozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing
cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we …
cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we …
Prevalence of α1-antitrypsin deficiency alleles PI* S and PI* Z worldwide and effective screening for each of the five phenotypic classes PI* MS, PI* MZ, PI* SS, PI* SZ …
FJ de Serres, I Blanco - Therapeutic advances in respiratory …, 2012 - journals.sagepub.com
Genetic epidemiological studies on the prevalence and numbers of individuals with α1-
antitrypsin deficiency in each of 97 countries worldwide were used to estimate the numbers …
antitrypsin deficiency in each of 97 countries worldwide were used to estimate the numbers …