Varaico: Literature-Extracted Genetic Variants

Gene:SERPINE1
Variant:p.V17I
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SERPINE1

NM_000602.5:p.V17I

Associated Papers

Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.

Bereczky Z et al.

Genes, 2025

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

Deep mutational scanning and massively parallel kinetics of plasminogen activator inhibitor-1 functional stability to probe its latency transition.

Haynes LM et al.

The Journal of Biological Chemistry, 2022

36257408 (PubMed )
Supplement: mmc1.xlsx › all_data

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

33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1

Genetic modifiers of long-term survival in sickle cell anemia.

Wonkam A et al.

Clinical and Translational Medicine, 2020

32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

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

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

4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

Yende S et al.

American Journal of Respiratory and Critical Care Medicine, 2007

Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma plasminogen activator inhibitor type 1 levels but not with myocardial infarction or stroke.

Ding J et al.

American Heart Journal, 2006

[The application of denaturing high performance liquid chromatography in detection of novel polymorphisms in PAI-1gene].

Wang XD et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

PAI-1 polymorphisms modulate phenotypes associated with the metabolic syndrome in obese and diabetic Caucasian population.

Lopes C et al.

Diabetologia, 2003

Population analysis of g.2488delG and three novel polymorphisms (g.4497G>A, g.4503G>A and g.2319G>A) in the plasminogen activator inhibitor 1 (PAI-1) gene.

Iwao M et al.

Human Mutation, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."