Associated Papers
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
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
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 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
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
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Normal Alpha-1-Antitrypsin Variants Display in Serum Allele-Specific Protein Levels.
Jager S et al.
Journal of Proteome Research, 2023
Connecting single-nucleotide polymorphisms, glycosylation status, and interactions of plasma serine protease inhibitors.
Wu D et al.
Chem, 2023
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
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
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
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
Proteomic Analysis of Human Plasma during Intermittent Fasting.
Harney DJ et al.
Journal of Proteome Research, 2019
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.
Nikolic A
Lung, 2018
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 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
Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.
Bengtson P et al.
Clinical Mass Spectrometry (del Mar, Calif.), 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Lara B et al.
Respiratory Research, 2014
Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments.
Tindall EA et al.
Human Mutation, 2009