Associated Papers
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S2
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
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
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
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
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
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
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
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
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM6_ESM.xlsx › Sheet1
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
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
23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
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
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
Biological implications of SNPs in signal peptide domains of human proteins.
Jarjanazi H et al.
Proteins, 2008
PAI-1 polymorphism and obesity: further evidence for an emerging role of genetic variations and interactions with menopause.
Mueck AO et al.
Menopause (new York, N.y.), 2005
Plasminogen-activator inhibitor-1 polymorphisms are associated with obesity and fat distribution in the Quebec Family Study: evidence of interactions with menopause.
Bouchard L et al.
Menopause (new York, N.y.), 2005
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