Associated Papers
Genetic drivers of liver cirrhosis: The role of SERPINA1 and PNPLA3 variants in disease onset and progression.
Holinka M et al.
Plos One, 2025
Probing of the reactive center loop region of alpha-1-antitrypsin by mutagenesis predicts new type-2 dysfunctional variants.
Denardo A et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.
Ottaviani S et al.
American Journal of Respiratory Cell and Molecular Biology, 2023
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
The conformational landscape of a serpin N-terminal subdomain facilitates folding and in-cell quality control.
Kaur U et al.
Biorxiv : the Preprint Server for Biology, 2023
Normal Alpha-1-Antitrypsin Variants Display in Serum Allele-Specific Protein Levels.
Jager S et al.
Journal of Proteome Research, 2023
Connecting single-nucleotide polymorphisms, glycosylation status, and interactions of plasma serine protease inhibitors.
Wu D et al.
Chem, 2023
Association of Alpha 1-antitrypsin Deficiency and Genetic Predisposition in Primary Spontaneous Pneumothorax.
Sahin T et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population.
Laffranchi M et al.
Plos One, 2019
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Molecular Detection of the Frequent Allele F52del in Alpha 1 Antitrypsin Deficiency.
Martínez Bugallo F et al.
Archivos De Bronconeumologia, 2018
Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations.
Foil KE et al.
Pulmonary Medicine, 2018
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.
Joly P et al.
Orphanet Journal of Rare Diseases, 2015
Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitstable: implications for DNA-based diagnosis.
Ambrose HJ et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 1999
Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.
Papiris SA et al.
Pulmonology, 0
PI*ZQ0Attikon genotype discovery in severe alpha-1 antitrypsin deficiency.
Papiris SA et al.
Pulmonology, 0