Varaico: Literature-Extracted Genetic Variants

Gene:THBS4
Variant:p.A387P
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THBS4

NM_003248.6:p.A387P

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

The P387 thrombospondin-4 variant promotes accumulation of macrophages in atherosclerotic lesions.

Muppala S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients.

Ambroziak M et al.

Journal of Thrombosis and Thrombolysis, 2019

Association of Thrombospondin-1 (N700S) and Thrombospondin-4 (A387P) Gene Polymorphisms with the Incidence of Acute Myocardial Infarction in Egyptians

Abdelmonem NA et al.

Current Pharmaceutical Biotechnology, 2017

Influences on plasminogen activator inhibitor-2 polymorphism-associated recurrent cardiovascular disease risk in patients with high HDL cholesterol and inflammation.

Corsetti JP et al.

Atherosclerosis, 2016

Association between single nucleotide polymorphisms in thrombospondins genes and coronary artery disease: A meta-analysis.

Zhang XJ et al.

Thrombosis Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A9-01A.domain

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

Cagliani R et al.

Human Mutation, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › TCGA

Polymorphism of THBS1 rs1478604 A>G in 5-untranslated region is associated with lymph node metastasis of gastric cancer in a Southeast Chinese population.

Lin XD et al.

Dna and Cell Biology, 2012

SNP-based large-scale identification of allele-specific gene expression in human B cells.

Song MY et al.

Gene, 2012

Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels.

Corsetti JP et al.

Thrombosis and Haemostasis, 2011

Prothrombotic gene polymorphisms: possible contributors to hepatic artery thrombosis after orthotopic liver transplantation.

Pereboom IT et al.

Transplantation, 2011

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Unknown Author

Plos Genetics, 2011

21966275 (PubMed )
Supplement: pgen.1002260.s008.pdf

Candidate gene polymorphisms and the 9p21 locus in acute coronary syndromes.

Tousoulis D et al.

Trends in Molecular Medicine, 2008

Polymorphisms in thrombospondin genes and myocardial infarction: a case-control study and a meta-analysis of available evidence.

Koch W et al.

Human Molecular Genetics, 2008

Pharmacogenomics in acute coronary syndrome.

Remmler C et al.

Expert Opinion on Pharmacotherapy, 2008

Polymorphisms in genes involved in innate immunity predispose toward mycetoma susceptibility.

van de Sande WW et al.

Journal of Immunology (baltimore, Md. : 1950), 2007

Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study.

Morgan TM et al.

Jama, 2007

Association study of ACE2 (angiotensin I-converting enzyme 2) gene polymorphisms with coronary heart disease and myocardial infarction in a Chinese Han population.

Yang W et al.

Clinical Science (london, England : 1979), 2006

Genetic factors for obesity.

Yamada Y et al.

International Journal of Molecular Medicine, 2006

Genetic susceptibility to myocardial infarction and coronary artery disease.

Topol EJ et al.

Human Molecular Genetics, 2006

Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke.

Yamada Y

Circulation Journal : Official Journal of the Japanese Circulation Society, 2006

Thrombospondin-4 1186G>C (A387P) is a sex-dependent risk factor for myocardial infarction: a large replication study with increased sample size from the same population.

Cui J et al.

American Heart Journal, 2006

Mechanism and effect of thrombospondin-4 polymorphisms on neutrophil function.

Pluskota E et al.

Blood, 2005

Polymorphisms A387P in thrombospondin-4 and N700S in thrombospondin-1 perturb calcium binding sites.

Stenina OI et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2005

Gender dependent association of thrombospondin-4 A387P polymorphism with myocardial infarction.

Cui J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2004

Coronary artery disease and the thrombospondin single nucleotide polymorphisms.

Stenina OI et al.

The International Journal of Biochemistry & Cell Biology, 2004

Genetic risk and gene-environment interaction in coronary artery spasm in Japanese men and women.

Murase Y et al.

European Heart Journal, 2004

Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population.

Zhou X et al.

Clinical Science (london, England : 1979), 2004

Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes.

McCarthy JJ et al.

Journal of Medical Genetics, 2004

Replication of the association between the thrombospondin-4 A387P polymorphism and myocardial infarction.

Wessel J et al.

American Heart Journal, 2004

Genetic risk for restenosis after coronary balloon angioplasty.

Horibe H et al.

Atherosclerosis, 2004

Genetic risk for coronary artery disease in individuals with or without type 2 diabetes.

Yamada Y et al.

Molecular Genetics and Metabolism, 2004

Structure of a thrombospondin C-terminal fragment reveals a novel calcium core in the type 3 repeats.

Kvansakul M et al.

The Embo Journal, 2004

Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.

Hirashiki A et al.

Journal of the American College of Cardiology, 2003

Thrombospondin-4 and its variants: expression and differential effects on endothelial cells.

Stenina OI et al.

Circulation, 2003

Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction.

Boekholdt SM et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2002

Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction.

Topol EJ et al.

Circulation, 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."