Associated Papers
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste.
Hernández Pérez JM et al.
Gene, 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
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 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
Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.
Meyers S et al.
Hemasphere, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 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
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
HIF1A: A Putative Modifier of Hemochromatosis.
Pelucchi S et al.
International Journal of Molecular Sciences, 2021
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
Is there any association between rs1303 (Pi*M3) variant of alpha-1 antitrypsin gene and atrial septal aneurysm development?
Caglar FNT et al.
Journal of Cardiac Surgery, 2019
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
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.
Zhao J et al.
Genome Medicine, 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
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.
Carpagnano GE et al.
Lung, 2017
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.
Mishra A et al.
Brain : a Journal of Neurology, 2017
Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.
Bengtson P et al.
Clinical Mass Spectrometry (del Mar, Calif.), 2016