Search Results - "ALPHA 1-antitrypsin deficiency"

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.

Authors: Ferrarotti I Piloni D Filosa A et al.

Source: Pulmonology [Pulmonology] 2025 Dec 31; Vol. 31 (1), pp. 2429911. Date of Electronic Publication: 2024 Dec 03.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101723786 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2531-0437 (Electronic) Linking ISSN: 25310429 NLM ISO Abbreviation: Pulmonology Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/epidemiology , alpha 1-Antitrypsin Deficiency*/diagnosis , Genotype* , alpha 1-Antitrypsin*/genetics, Humans ; Male ; Female ; Middle Aged ; Adult ; Registries ; Aged ; Italy/epidemiology ; Severity of Illness Index

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations.

Authors: Martín-González E Hernández-Pérez JM Pérez JAP et al.

Source: Pulmonology [Pulmonology] 2025 Dec 31; Vol. 31 (1), pp. 2416870. Date of Electronic Publication: 2024 Oct 25.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101723786 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2531-0437 (Electronic) Linking ISSN: 25310429 NLM ISO Abbreviation: Pulmonology Subsets: MEDLINE

MeSH Terms: Asthma*/genetics , Asthma*/blood , Asthma*/epidemiology , alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin*/blood , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/blood, Humans ; Male ; Female ; Middle Aged ; Adult ; Spain/epidemiology ; Aged ; Disease Progression ; Genotype

Performance of enhanced liver fibrosis test and indirect serum fibrosis markers for exclusion of advanced liver fibrosis in alpha-1 antitrypsin deficiency.

Authors: Kappe NN Fromme M Stolk J et al.

Source: European journal of internal medicine [Eur J Intern Med] 2025 Dec; Vol. 142, pp. 106423. Date of Electronic Publication: 2025 Jul 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 9003220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0828 (Electronic) Linking ISSN: 09536205 NLM ISO Abbreviation: Eur J Intern Med Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/blood , Liver Cirrhosis*/blood , Liver Cirrhosis*/diagnosis , Liver Cirrhosis*/etiology , Aspartate Aminotransferases*/blood, Humans ; Male ; Female ; Middle Aged ; Biomarkers/blood ; Retrospective Studies ; Adult ; ROC Curve ; Elasticity Imaging Techniques ; Platelet Count ; Aged ; Predictive Value of Tests ; Severity of Illness Index

Patient-reported outcome measures for use in patients with alpha-1-antitrypsin deficiency: results of a systematic selection process.

Authors: Müller K Vogl L Knüttel H et al.

Source: BMJ open respiratory research [BMJ Open Respir Res] 2025 Nov 27; Vol. 12 (1). Date of Electronic Publication: 2025 Nov 27.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: BMJ Publishing Group Ltd & British Thoracic Society Country of Publication: England NLM ID: 101638061 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4439 (Electronic) Linking ISSN: 20524439 NLM ISO Abbreviation: BMJ Open Respir Res Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/psychology , Patient Reported Outcome Measures* , Quality of Life*, Humans ; Liver Diseases/etiology ; Pulmonary Disease, Chronic Obstructive/etiology ; Surveys and Questionnaires

The mechanism of pathogenic α 1 -antitrypsin aggregation in the human liver.

Authors: Aldobiyan I Elliston ELK Heyer-Chauhan N et al.

Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2025 Nov 18; Vol. 122 (46), pp. e2507535122. Date of Electronic Publication: 2025 Nov 13.

Publication Type: Journal Article

Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin*/chemistry , alpha 1-Antitrypsin*/metabolism , alpha 1-Antitrypsin*/genetics , Liver*/metabolism , Liver*/pathology , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/metabolism , alpha 1-Antitrypsin Deficiency*/pathology , Protein Aggregation, Pathological*/metabolism , Protein Aggregation, Pathological*/genetics, Humans ; Cryoelectron Microscopy ; Protein Aggregates ; Models, Molecular

Matrix metalloproteinases and disease severity among PI*MZ and PI*ZZ individuals in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) cohort.

Authors: Tejwani V Bowler RP Serban KA et al.

Source: BMJ open respiratory research [BMJ Open Respir Res] 2025 Nov 17; Vol. 12 (1). Date of Electronic Publication: 2025 Nov 17.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Publishing Group Ltd & British Thoracic Society Country of Publication: England NLM ID: 101638061 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4439 (Electronic) Linking ISSN: 20524439 NLM ISO Abbreviation: BMJ Open Respir Res Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/complications , Pulmonary Disease, Chronic Obstructive*/genetics , Matrix Metalloproteinases*/genetics , Matrix Metalloproteinases*/metabolism , alpha 1-Antitrypsin*/genetics , Sarcoidosis, Pulmonary*/genetics, Humans ; Male ; Female ; Middle Aged ; Severity of Illness Index ; Adult ; Bronchoalveolar Lavage Fluid/chemistry ; Cohort Studies ; Alleles ; Aged

Quantitative analysis of chest computed tomography in alpha-1-antitrypsin deficiency.

Authors: Höger P Benholz J Weinheimer O et al.

Source: Respiratory research [Respir Res] 2025 Nov 15; Vol. 26 (1), pp. 320. Date of Electronic Publication: 2025 Nov 15.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/diagnostic imaging , alpha 1-Antitrypsin Deficiency*/blood , Tomography, X-Ray Computed*/methods , Pulmonary Emphysema*/diagnostic imaging , Pulmonary Emphysema*/physiopathology, Humans ; Male ; Middle Aged ; Female ; Retrospective Studies ; Aged ; Adult ; Cohort Studies

A compact base editor rescues AATD-associated liver and lung disease in mouse models.

Authors: Jenny Gao Bamidele N Pires-Ferreira D et al.

Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2025 Nov 05; Vol. 33 (11), pp. 5817-5828. Date of Electronic Publication: 2025 Aug 28.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

MeSH Terms: Gene Editing*/methods , alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/therapy , alpha 1-Antitrypsin Deficiency*/complications , Liver Diseases*/therapy , Liver Diseases*/genetics , Liver Diseases*/etiology , Lung Diseases*/therapy , Lung Diseases*/genetics , Lung Diseases*/etiology , Genetic Therapy*/methods, Animals ; Mice ; Disease Models, Animal ; Mice, Transgenic ; Humans ; Mutation ; CRISPR-Cas Systems ; Dependovirus/genetics ; Genetic Vectors/genetics

Administrative coding for alpha-1 antitrypsin deficiency including the pi*ZZ phenotype is accurate in Sweden.

Authors: Boeckmans J Ullman S Ludvigsson JF et al.

Source: Scandinavian journal of gastroenterology [Scand J Gastroenterol] 2025 Nov; Vol. 60 (11), pp. 1096-1103. Date of Electronic Publication: 2025 Aug 11.

Publication Type: Journal Article; Validation Study

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0060105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1502-7708 (Electronic) Linking ISSN: 00365521 NLM ISO Abbreviation: Scand J Gastroenterol Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/classification , International Classification of Diseases* , Clinical Coding*/standards, Humans ; Sweden ; Phenotype ; Adult ; Male ; Female ; Child ; Middle Aged ; Registries ; Adolescent ; Aged ; Child, Preschool ; Young Adult ; Infant ; Liver Diseases

Pioglitazone reduces hepatic α-1 antitrypsin accumulation through autophagy and AMPK activation in α-1 antitrypsin-deficient mice.

Authors: Lu Y Oshins R Maptue NR et al.

Source: American journal of physiology. Gastrointestinal and liver physiology [Am J Physiol Gastrointest Liver Physiol] 2025 Nov 01; Vol. 329 (5), pp. G585-G596. Date of Electronic Publication: 2025 Sep 29.

Publication Type: Journal Article

Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1547 (Electronic) Linking ISSN: 01931857 NLM ISO Abbreviation: Am J Physiol Gastrointest Liver Physiol Subsets: MEDLINE

MeSH Terms: Pioglitazone*/pharmacology , Autophagy*/drug effects , AMP-Activated Protein Kinases*/metabolism , alpha 1-Antitrypsin Deficiency*/drug therapy , alpha 1-Antitrypsin Deficiency*/metabolism , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/pathology , alpha 1-Antitrypsin*/metabolism , alpha 1-Antitrypsin*/genetics , Liver*/drug effects , Liver*/metabolism , Liver*/pathology, Animals ; Mice ; Humans ; Hepatocytes/drug effects ; Hepatocytes/metabolism ; Mice, Transgenic ; Male ; Signal Transduction

Alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis: a systematic review and meta-analysis.

Authors: Alluhibi R Baradwaaj S Heyer-Chauhan N et al.

Source: European respiratory review : an official journal of the European Respiratory Society [Eur Respir Rev] 2025 Oct 22; Vol. 34 (178). Date of Electronic Publication: 2025 Oct 22 (Print Publication: 2025).

Publication Type: Systematic Review; Journal Article; Meta-Analysis; Review

Journal Info: Publisher: European Respiratory Society Country of Publication: England NLM ID: 9111391 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1600-0617 (Electronic) Linking ISSN: 09059180 NLM ISO Abbreviation: Eur Respir Rev Subsets: MEDLINE

MeSH Terms: Granulomatosis with Polyangiitis*/genetics , Granulomatosis with Polyangiitis*/epidemiology , Granulomatosis with Polyangiitis*/diagnosis , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/epidemiology , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin*/genetics, Humans ; Genetic Predisposition to Disease ; Risk Factors ; Phenotype ; Prevalence ; Risk Assessment

Improving Screening for Alpha-1 Antitrypsin Deficiency in Adults with COPD.

Authors: Smith MD Couch KA

Source: Joint Commission journal on quality and patient safety [Jt Comm J Qual Patient Saf] 2025 Oct; Vol. 51 (10), pp. 659-665. Date of Electronic Publication: 2025 Jul 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101238023 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-131X (Electronic) Linking ISSN: 15537250 NLM ISO Abbreviation: Jt Comm J Qual Patient Saf Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/complications , Pulmonary Disease, Chronic Obstructive*/complications , Mass Screening*/organization & administration , Mass Screening*/methods , Quality Improvement*/organization & administration, Humans ; Male ; Female ; Middle Aged ; Primary Health Care/organization & administration ; Adult ; United States ; Aged

Diagnosis and Monitoring Pathways Using Non-Invasive Tests in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease: Results From an Expert Delphi Panel.

Authors: Clark VC Price MA Russo J et al.

Source: United European gastroenterology journal [United European Gastroenterol J] 2025 Oct; Vol. 13 (8), pp. 1446-1455. Date of Electronic Publication: 2025 Mar 12.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 101606807 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2050-6414 (Electronic) Linking ISSN: 20506406 NLM ISO Abbreviation: United European Gastroenterol J Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/genetics , Liver Cirrhosis*/diagnosis , Liver Cirrhosis*/etiology , Liver Diseases*/diagnosis , Liver Diseases*/etiology, Humans ; Delphi Technique ; Consensus ; Elasticity Imaging Techniques/methods ; Liver/pathology ; Liver/diagnostic imaging ; Magnetic Resonance Imaging

Characterisation of patients with Alpha-1 antitrypsin deficiency using unsupervised machine learning tools.

Authors: Villar-Aguilar L Casal-Guisande M Fernández-Villar A et al.

Source: Respiratory medicine [Respir Med] 2025 Oct; Vol. 247, pp. 108278. Date of Electronic Publication: 2025 Jul 29.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 8908438 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3064 (Electronic) Linking ISSN: 09546111 NLM ISO Abbreviation: Respir Med Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/epidemiology , alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/genetics , alpha 1-Antitrypsin Deficiency*/physiopathology , alpha 1-Antitrypsin Deficiency*/diagnosis , Unsupervised Machine Learning*, Humans ; Female ; Male ; Middle Aged ; Pilot Projects ; Cross-Sectional Studies ; Adult ; Pulmonary Emphysema/etiology ; Pulmonary Emphysema/epidemiology ; Spain/epidemiology ; Aged ; Registries ; Bronchiectasis/epidemiology

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.

Authors: Leon C Odou MF Roquelaure B et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 21; Vol. 20 (1), pp. 615. Date of Electronic Publication: 2025 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin*/metabolism , Mutation, Missense*/genetics , alpha 1-Antitrypsin Deficiency*/genetics, Humans ; Male ; Female

A new SERPINA1 null allele of the PI*S-plus type: PI*Q0 Tegueste .

Authors: Hernández Pérez JM Escuela-Escobar A Travieso RL et al.

Source: Gene [Gene] 2025 Oct 10; Vol. 968, pp. 149741. Date of Electronic Publication: 2025 Aug 30.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin*/blood , alpha 1-Antitrypsin*/genetics , alpha 1-Antitrypsin Deficiency*/genetics, Humans ; Female ; Middle Aged ; Loss of Function Mutation ; RNA Stability

Galectin-8 binding to alpha-1 antitrypsin is a physiological mechanism in healthy individuals but exacerbates the symptoms of alpha-1 antitrypsin deficiency.

Authors: Sayed H Mayo KH Zhou Y et al.

Source: Archives of biochemistry and biophysics [Arch Biochem Biophys] 2025 Oct; Vol. 772, pp. 110577. Date of Electronic Publication: 2025 Aug 06.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0372430 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0384 (Electronic) Linking ISSN: 00039861 NLM ISO Abbreviation: Arch Biochem Biophys Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin*/metabolism , alpha 1-Antitrypsin*/chemistry , Galectins*/metabolism , Galectins*/chemistry , alpha 1-Antitrypsin Deficiency*/metabolism, Humans ; Animals ; CHO Cells ; Cricetulus ; Protein Binding ; HeLa Cells ; Kinetics ; Proteolysis ; Trypsin/metabolism

Applications of Artificial Intelligence in Alpha-1 Antitrypsin Deficiency: A Systematic Review from a Respiratory Medicine Perspective.

Authors: Casal-Guisande M Villar-Aguilar L Fernández-Villar A et al.

Source: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2025 Sep 30; Vol. 61 (10). Date of Electronic Publication: 2025 Sep 30.

Publication Type: Journal Article; Systematic Review; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/diagnosis , alpha 1-Antitrypsin Deficiency*/physiopathology , Artificial Intelligence*/trends , Artificial Intelligence*/standards , Pulmonary Medicine*/methods , Pulmonary Medicine*/trends, Humans ; Pulmonary Disease, Chronic Obstructive

Plasma proteome correlations with liver stiffness in pediatric cholestasis implicate epithelial to mesenchymal transition.

Authors: Shneider BL Kanchi RS Grimm SL et al.

Corporate Authors: Shneider BL Kanchi RS Grimm SL et al.

Source: Hepatology communications [Hepatol Commun] 2025 Sep 29; Vol. 9 (10). Date of Electronic Publication: 2025 Sep 29 (Print Publication: 2025).

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101695860 Publication Model: eCollection Cited Medium: Internet ISSN: 2471-254X (Electronic) Linking ISSN: 2471254X NLM ISO Abbreviation: Hepatol Commun Subsets: MEDLINE

MeSH Terms: Alagille Syndrome*/blood , Alagille Syndrome*/complications , Alagille Syndrome*/pathology , alpha 1-Antitrypsin Deficiency*/blood , alpha 1-Antitrypsin Deficiency*/complications , Biliary Atresia*/blood , Biliary Atresia*/complications , Biliary Atresia*/pathology , Cholestasis*/blood , Cholestasis*/pathology , Epithelial-Mesenchymal Transition* , Liver*/pathology , Liver*/diagnostic imaging, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Case-Control Studies ; Cross-Sectional Studies ; Elasticity Imaging Techniques ; Proteome/analysis

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.

Authors: Annunziata A Fiorentino G Simioli F et al.

Source: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2025 Sep 25; Vol. 61 (10). Date of Electronic Publication: 2025 Sep 25.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

MeSH Terms: alpha 1-Antitrypsin Deficiency*/complications , alpha 1-Antitrypsin Deficiency*/physiopathology , alpha 1-Antitrypsin Deficiency*/drug therapy, Humans ; Retrospective Studies ; Male ; Female ; Middle Aged ; Pulmonary Disease, Chronic Obstructive/drug therapy ; Pulmonary Disease, Chronic Obstructive/physiopathology ; Phenotype ; Quality of Life ; Aged ; Cohort Studies ; alpha 1-Antitrypsin/blood ; Pulmonary Emphysema ; Adult ; Surveys and Questionnaires