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 …
Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency
KE Foil - Therapeutic Advances in Chronic Disease, 2021 - journals.sagepub.com
Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene, which
encodes the alpha-1 antitrypsin (AAT) protein. Currently, over 200 SERPINA1 variants have …
encodes the alpha-1 antitrypsin (AAT) protein. Currently, over 200 SERPINA1 variants have …
[PDF][PDF] A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with α1‐antitrypsin deficiency
E Miranda, J Pérez, UI Ekeowa, N Hadzic… - …, 2010 - Wiley Online Library
Alpha1‐antitrypsin is the most abundant circulating protease inhibitor. The severe Z
deficiency allele (Glu342Lys) causes the protein to undergo a conformational transition and …
deficiency allele (Glu342Lys) causes the protein to undergo a conformational transition and …
[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 …
Identification and characterisation of eight novel SERPINA1 Null mutations
I Ferrarotti, TP Carroll, S Ottaviani, AM Fra… - Orphanet journal of rare …, 2014 - Springer
Abstract Background Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease
and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding …
and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding …
Novel SERPINA1 alleles identified through a large alpha-1 antitrypsin deficiency screening program and review of known variants
GS Wiesemann, RA Oshins, TO Flagg… - … Diseases: Journal of …, 2022 - pmc.ncbi.nlm.nih.gov
The SERPINA1 gene encodes the serine protease inhibitor alpha-1 antitrypsin (AAT) and is
located on chromosome 14q31-32.3 in a cluster of homologous genes likely formed by exon …
located on chromosome 14q31-32.3 in a cluster of homologous genes likely formed by exon …
Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency
E Giacopuzzi, M Laffranchi, R Berardelli… - Human …, 2018 - Wiley Online Library
The growth of publicly available data informing upon genetic variations, mechanisms of
disease, and disease subphenotypes offers great potential for personalized medicine …
disease, and disease subphenotypes offers great potential for personalized medicine …
Comprehensive clinical diagnostic pipelines reveal new variants in Alpha-1 antitrypsin deficiency
S Ottaviani, G Bartoli, TP Carroll… - American Journal of …, 2023 - atsjournals.org
Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed disorder associated with
mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT). Severe AATD can …
mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT). Severe AATD can …
Probing of the reactive center loop region of alpha-1-antitrypsin by mutagenesis predicts new type-2 dysfunctional variants
A Denardo, E Ben Khlifa, M Bignotti, R Giuliani… - Cellular and Molecular …, 2024 - Springer
Lung disease in alpha-1-antitrypsin deficiency (AATD) mainly results from insufficient control
of the serine proteases neutrophil elastase (NE) and proteinase-3 due to reduced plasma …
of the serine proteases neutrophil elastase (NE) and proteinase-3 due to reduced plasma …
Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT
plasma levels, predisposing adults to pulmonary emphysema. The most common genetic …
plasma levels, predisposing adults to pulmonary emphysema. The most common genetic …