Associated Papers
Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations.
Olivares-Rivera A et al.
Molecular Genetics and Metabolism Reports, 2026
Germline mutations and somatic mosaicism in steatotic liver diseases and related liver carcinogenesis.
Trépo E et al.
Nature Reviews. Gastroenterology & Hepatology, 2026
RNA editing for the treatment of alpha-1 antitrypsin deficiency.
Monian P et al.
Nucleic Acids Research, 2026
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
Ferrarotti I et al.
Pulmonology, 2025
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Neonatal-Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha-1 Antitrypsin Deficiency.
Heiman S et al.
Pediatric Dermatology, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.
Leon C et al.
Orphanet Journal of Rare Diseases, 2025
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.
Hernández Pérez JM et al.
Gene, 2025
Analytical Validation of a Genomic Newborn Screening Workflow.
Hovhannesyan K et al.
International Journal of Neonatal Screening, 2025
Mendelian causes of early-onset emphysema: a review of the current literature.
Karabatic A et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2025
Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.
Vujkovic M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
High Frequency of CTNNB1 Variants Associated with Benign and Malignant Liver Tumors in Patients with Congenital Porto-Systemic Shunts.
Tyraskis A et al.
Liver Cancer, 2025
Alpha-1 antitrypsin deficiency with the rare IZ phenotype presenting as cystic lung disease.
Reed TJ et al.
Bmj Case Reports, 2025
Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
Silva Rodriguez M et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2025
Liver Disease and Prevalence of Liver Transplantation in Adults With ZZ Alpha-1 Antitrypsin Deficiency-A Meta-Analysis.
Syanda AM et al.
Liver International Communications, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
High-resolution characterization of ex vivo AAT polymers by solution-state NMR spectroscopy.
Lowen SM et al.
Science Advances, 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
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Brzozowska N et al.
Nature Genetics, 2025
The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease.
Vilarinho S
Nature Genetics, 2025
Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation.
Surendran H et al.
Stem Cell Research, 2025
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Editing Approaches to Treat Alpha-1 Antitrypsin Deficiency.
Erion DM et al.
Chest, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.
Wang JJ et al.
Frontiers in Physiology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye.
Karadoğan D et al.
Bmc Pulmonary Medicine, 2024
Alpha-1 antitrypsin deficiency associated with increased risks of skin cancer, leukemia, and hepatic cancer: A nationwide cohort study.
Korsbæk NJ et al.
Journal of Internal Medicine, 2024
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR et al.
Nature Genetics, 2024
Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.
Sookoian S et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Ozdemir L et al.
Croatian Medical Journal, 2024
The contribution of genetics and epigenetics to MAFLD susceptibility.
Moretti V et al.
Hepatology International, 2024
Clinical and genetic risk factors for progressive fibrosis in metabolic dysfunction-associated steatotic liver disease.
Kaplan DE et al.
Hepatology Communications, 2024
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 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
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J et al.
Nature Genetics, 2024