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 …
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 …
Alpha-1 antitrypsin Pi* Z gene frequency and Pi* ZZ genotype numbers worldwide: an update
In alpha-1 antitrypsin deficiency (AATD), the Z allele is present in 98% of cases with severe
disease, and knowledge of the frequency of this allele is essential from a public health …
disease, and knowledge of the frequency of this allele is essential from a public health …
Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder
M Fromme, CV Schneider, C Trautwein… - Journal of …, 2022 - Elsevier
Summary Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1
gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic …
gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic …
A review of alpha-1 antitrypsin binding partners for immune regulation and potential therapeutic application
Alpha-1 antitrypsin (AAT) is the canonical serine protease inhibitor of neutrophil-derived
proteases and can modulate innate immune mechanisms through its anti-inflammatory …
proteases and can modulate innate immune mechanisms through its anti-inflammatory …
Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions
Abstract Alpha-1-antitrypsin (AAT) is an acute phase secretory glycoprotein that inhibits
neutrophil proteases like elastase and is considered as the archetype of a family of …
neutrophil proteases like elastase and is considered as the archetype of a family of …
Alpha1-antitrypsin deficiency: new therapies on the horizon
K Remih, S Amzou, P Strnad - Current Opinion in Pharmacology, 2021 - Elsevier
Abstract Alpha1-antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1
gene, coding for alpha1-antitrypsin (AAT). AAT is synthesised mainly in the liver and is …
gene, coding for alpha1-antitrypsin (AAT). AAT is synthesised mainly in the liver and is …
Clarifying the risk of lung disease in SZ alpha-1 antitrypsin deficiency
AN Franciosi, BD Hobbs, OJ McElvaney… - American Journal of …, 2020 - atsjournals.org
Rationale: The ZZ genotype of alpha-1 antitrypsin deficiency (AATD) is associated with
chronic obstructive pulmonary disease (COPD), even among never-smokers. The SZ …
chronic obstructive pulmonary disease (COPD), even among never-smokers. The SZ …
An RNA structure-mediated, posttranscriptional model of human α-1-antitrypsin expression
M Corley, A Solem, G Phillips… - Proceedings of the …, 2017 - National Acad Sciences
Chronic obstructive pulmonary disease (COPD) affects over 65 million individuals
worldwide, where α-1-antitrypsin deficiency is a major genetic cause of the disease. The α-1 …
worldwide, where α-1-antitrypsin deficiency is a major genetic cause of the disease. The α-1 …
[HTML][HTML] Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
D Silva, MJ Oliveira, M Guimaraes, R Lima, S Gomes… - Respiratory …, 2016 - Elsevier
Abstract Background Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by
SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum …
SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum …