Associated Papers
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
Tracing genetic diversity captures the molecular basis of misfolding disease.
Zhao P et al.
Nature Communications, 2024
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.
Manderstedt E et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.
Wang C et al.
Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2020
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
[Recurrent bleeding tendency in a school-aged boy].
Tang XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
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