Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Genetic association of plasminogen activator inhibitor-1 gene polymorphisms (rs2227631 and rs6092) with susceptibility to oral premalignant disorders in a South Indian cohort.
Subbiah U et al.
Oral and Maxillofacial Surgery, 2025
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
The influence of 4G/5G polymorphism in the plasminogen-activator-inhibitor-1 promoter on COVID-19 severity and endothelial dysfunction.
Yatsenko T et al.
Frontiers in Immunology, 2024
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
Association between PAI-1 Polymorphisms and Ischemic Stroke in a South Korean Case-Control Cohort.
Choi GH et al.
International Journal of Molecular Sciences, 2023
Association of SNPs in the PAI1 Gene with Disease Recurrence and Clinical Outcome in Bladder Cancer.
Murakami K et al.
International Journal of Molecular Sciences, 2023
Genetic markers for inherited thrombophilia related pregnancy loss and implantation failure in Indian population - implications for diagnosis and clinical management.
Udumudi A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022
Plasminogen Activator Inhibitor-1 Polymorphisms and Risk of Coronary Artery Disease: Evidence From Meta-Analysis and Trial Sequential Analysis.
Tabaei S et al.
Biochemical Genetics, 2022
SERPINE1 rs6092 Variant Is Related to Plasma Coagulation Proteins in Patients with Severe COVID-19 from a Tertiary Care Hospital.
Fricke-Galindo I et al.
Biology, 2022
Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases.
Osman A et al.
Bmc Medical Genomics, 2022
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).
Parsopoulou F et al.
Frontiers in Allergy, 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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
The Synergistic Effect of Plasminogen Activator Inhibitor-1 (PAI-1) Polymorphisms and Metabolic Syndrome on Coronary Artery Disease in the Korean Population.
Park HS et al.
Journal of Personalized Medicine, 2020
Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.
Cygan PH et al.
Thrombosis Research, 2020
Association between Five Common Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms and Colorectal Cancer Susceptibility.
Oh J et al.
International Journal of Molecular Sciences, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Hemostatic Genes Exhibit a High Degree of Allele-Specific Regulation in Liver.
Olsson Lindvall M et al.
Thrombosis and Haemostasis, 2019
Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.
Tikhonova EB et al.
Journal of Molecular Biology, 2019
Association of SERPINE1 rs6092 with type 2 diabetes and related metabolic traits in a Chinese population.
Fan Q et al.
Gene, 2018
Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.
Franca R et al.
The Pharmacogenomics Journal, 2017
Association of Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms with Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
Kim JO et al.
International Journal of Molecular Sciences, 2016
SERPINE1 -844 and -675 polymorphisms and chronic obstructive pulmonary disease in a Chinese Han population.
Xu X et al.
The Journal of International Medical Research, 2016
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
The Effect of PAI-1 4G/5G Polymorphism and Clinical Factors on Coronary Artery Occlusion in Myocardial Infarction.
Parpugga TK et al.
Disease Markers, 2015
The obstetric, gynaecological and fertility implications of homozygous PAI-1 deficiency: single-centre experience.
Heiman M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency.
Jeon YJ et al.
Fertility and Sterility, 2014
Genetic association of five plasminogen activator inhibitor-1 (PAI-1) polymorphisms and idiopathic recurrent pregnancy loss in Korean women.
Jeon YJ et al.
Thrombosis and Haemostasis, 2013
Plasminogen Activator Inhibitor Type 1 (PAI-1) A15T Gene Polymorphism Is Associated with Prognosis in Patients with EGFR Mutation Positive Pulmonary Adenocarcinoma.
Lim JE et al.
Tuberculosis and Respiratory Diseases, 2013
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A et al.
Plos One, 2013
Association analyses of porcine SERPINE1 reveal sex-specific effects on muscling, growth, fat accretion and meat quality.
Weisz F et al.
Animal Genetics, 2012
Val17Ile single nucleotide polymorphisms similarly as Ala15Thr could be related to the lower secretory dynamics of PAI-1 secretion: theoretical evidence.
Jankun J et al.
Current Molecular Medicine, 2011
Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1.
Jankun J et al.
Experimental and Therapeutic Medicine, 2010
Plasminogen activator inhibitor variants PAI-1 A15T and PAI-2 S413C influence lung cancer prognosis.
Di Bernardo MC et al.
Lung Cancer (amsterdam, Netherlands), 2009
Plasminogen activator inhibitor-1 and asthma: role in the pathogenesis and molecular regulation.
Ma Z et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2009
Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach.
Hon LS et al.
Human Mutation, 2009
Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.
Campbell DB et al.
Autism Research : Official Journal of the International Society for Autism Research, 2008
Biological implications of SNPs in signal peptide domains of human proteins.
Jarjanazi H et al.
Proteins, 2008
Association of plasminogen activator inhibitor (PAI)-1 (SERPINE1) SNPs with myocardial infarction, plasma PAI-1, and metabolic parameters: the HIFMECH study.
Morange PE et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2007