Associated Papers
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.
Hernández Pérez JM et al.
Gene, 2025
Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-Analysis and Clinical Practice Guideline.
Hernandez P et al.
Chest, 2025
Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Sun S et al.
Cell Reports. Medicine, 2025
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.
Sarrou S et al.
International Journal of Molecular Sciences, 2024
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
Normal Alpha-1-Antitrypsin Variants Display in Serum Allele-Specific Protein Levels.
Jager S et al.
Journal of Proteome Research, 2023
Association Study among Comethylation Modules, Genetic Polymorphisms and Clinical Features in Mexican Teenagers with Eating Disorders: Preliminary Results.
Nolasco-Rosales GA et al.
Nutrients, 2021
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
Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.
Bidla G et al.
The Journal of Applied Laboratory Medicine, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
HIF1A: A Putative Modifier of Hemochromatosis.
Pelucchi S et al.
International Journal of Molecular Sciences, 2021
Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.
Gupta N et al.
The European Respiratory Journal, 2020
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.
Ortega VE et al.
American Journal of Respiratory and Critical Care Medicine, 2020
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.
Jouhadi Z et al.
Respiratory Medicine Case Reports, 2018
SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.
Joly P et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2017
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
Liu R et al.
Scientific Reports, 2017
Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.
Bengtson P et al.
Clinical Mass Spectrometry (del Mar, Calif.), 2016
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
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Lara B et al.
Respiratory Research, 2014
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012