ReviewThe application of clinical genetics2021
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of
Review in The application of clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
69 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.Orphanet journal of rare diseases · 2024Pooled it
- Genetic Landscape of the ACE2 Coronavirus Receptor.Circulation · 2022Pooled it
- Elevated alpha-1 antitrypsin and C-reactive protein: association on all-cause and cause-specific mortality in older adults.GeroScience · 2026Trial
- The Course of AαVal541 as a Proteinase 3 Specific Neo-Epitope after Alpha-1-Antitrypsin Augmentation in Severe Deficient Patients.International journal of molecular sciences · 2021Trial
- Precision nanomedicine for pulmonary diseases: from molecular targeting to clinical translation.Signal transduction and targeted therapy · 2026Review
- Gene Therapy: Knowledge, Attitudes, and Preferences Among Individuals with Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2026Article
- Community-BasedBiomedicines · 2026Article
- Delineating a reference interval for functional alpha-1 antitrypsin in the serum of healthy Pi*MM donors using an anti-neutrophil elastase capacity assay.Respiratory research · 2026Article
- Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine.Journal of cellular and molecular medicine · 2026Review
- Alpha-1 Antitrypsin Deficiency-Associated Chronic Obstructive Pulmonary Disease.Medicina (Kaunas, Lithuania) · 2026Review
- Novel mutation (MMultidisciplinary respiratory medicine · 2026Article
- Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations.Molecular genetics and metabolism reports · 2026Article
- Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.Respiratory research · 2026Article
- Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.Nature structural & molecular biology · 2025Article
- Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.Medeniyet medical journal · 2025Article
- Phenotypic Expression of Respiratory Diseases and Tailored Treatment in Patients with Intermediate Alpha-1 Antitrypsin Deficiency: Evidence from a Retrospective Analysis of a Selected Cohort of Patients.Medicina (Kaunas, Lithuania) · 2025Article
- Alpha-1 antitrypsin deficiency with the rare IZ phenotype presenting as cystic lung disease.BMJ case reports · 2025Article
- Alpha1-Antitrypsin in Lung Diseases: A Cross-Sectional Observational Study.International journal of molecular sciences · 2025Observational
- Article
- Emerging clinical applications of ADAR based RNA editing.Stem cells translational medicine · 2025Review
9 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1-Antitrypsin deficiency (AATD), caused by
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.