Varaico: Literature-Extracted Genetic Variants

Gene:THBS1
Variant:p.N700S
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THBS1

NM_003246.4:p.N700S

Associated Papers

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.

Akcesme B et al.

Neurogenetics, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

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

ATR1 A1166C (rs5186), FII G20210A (rs1799963), FV G1691A (rs6025), FXIII 97G > T (rs11466016) and MTHFR A1298C (rs1801131) polymorphisms and the risk of ST-elevation myocardial infarction in young Mexican individuals.

Isordia-Salas I et al.

Molecular Biology Reports, 2024

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

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

Boese EA et al.

Journal of Glaucoma, 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

Genetic Variants Associated with High Susceptibility of Premature Ischemic Stroke.

Isordia-Salas I et al.

Journal of the Renin-angiotensin-aldosterone System : Jraas, 2023

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

Fu H et al.

The Journal of Clinical Investigation, 2022

Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Mou JT et al.

Annals of Translational Medicine, 2022

Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork Cells.

Wirtz MK et al.

Current Eye Research, 2022

Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.

Kaur S et al.

Journal of Cell Communication and Signaling, 2021

Polymorphism of R353Q (rs6046) in factor VII and the risk of myocardial infarction: A systematic review and meta-analysis.

Huang H et al.

Medicine, 2018

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

Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India.

Kanchan K et al.

European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology, 2015

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

Zhang XJ et al.

Thrombosis Research, 2015

Arab gene geography: From population diversities to personalized medical genomics.

Tadmouri GO et al.

Global Cardiology Science & Practice, 2014

An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Preeprem T et al.

Biodata Mining, 2013

High-resolution mutational profiling suggests the genetic validity of glioblastoma patient-derived pre-clinical models.

Yost SE et al.

Plos One, 2013

23441165 (PubMed )
Supplement: pone.0056185.s012.xlsx › Sheet1

Poly-gene fusion transcripts and chromothripsis in prostate cancer.

Wu C et al.

Genes, Chromosomes & Cancer, 2012

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

Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy.

Zhi D et al.

Frontiers in Genetics, 2012

An association study of thrombospondin 1 and 2 SNPs with coronary artery disease and myocardial infarction among South Indians.

Ashokkumar M et al.

Thrombosis Research, 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

[Association of thrombospondin-1 gene N700S polymorphism with coronary artery disease].

Shi YP et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2011

Interactions among stalk modules of thrombospondin-1.

Liu Y et al.

The Journal of Biological Chemistry, 2009

Molecular genetics of atherosclerosis.

Roy H et al.

Human Genetics, 2009

Genetic polymorphisms in platelet-related proteins and coronary artery disease: investigation of candidate genes, including N-acetylgalactosaminyltransferase 4 (GALNT4) and sulphotransferase 1A1/2 (SULT1A1/2).

O'Halloran AM et al.

Journal of Thrombosis and Thrombolysis, 2009

Combined effects of the angiogenic genes polymorphisms on prostate cancer susceptibility and aggressiveness.

Sfar S et al.

Molecular Biology Reports, 2009

Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.

Frank B et al.

Cancer Letters, 2008

Influences of the N700S thrombospondin-1 polymorphism on protein structure and stability.

Carlson CB et al.

The Journal of Biological Chemistry, 2008

The genetic basis of coronary artery disease: from candidate genes to whole genome analysis.

Franchini M et al.

Trends in Cardiovascular 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

Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis.

Sellick GS et al.

Blood, 2008

Association of thrombospondin-1 gene polymorphisms with myocardial infarction in a Chinese Han population.

Gao L et al.

Chinese Medical Journal, 2008

Molecular genetics of myocardial infarction.

Yamada Y et al.

Genomic Medicine, 2008

Thrombospondins, their polymorphisms, and cardiovascular disease.

Stenina OI et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2007

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

Morgan TM et al.

Jama, 2007

TSP1 and MMP9 genetic variants in sporadic prostate cancer.

Sfar S et al.

Cancer Genetics and Cytogenetics, 2007

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.

Webb EL et al.

Human Molecular Genetics, 2006

The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without altering von Willebrand factor multimer size.

Zwicker JI et al.

Blood, 2006

Variants in the GH-IGF axis confer susceptibility to lung cancer.

Rudd MF et al.

Genome Research, 2006

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

Structure of the calcium-rich signature domain of human thrombospondin-2.

Carlson CB et al.

Nature Structural & Molecular Biology, 2005

[Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population].

Jiang J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

A polymorphism in thrombospondin-1 associated with familial premature coronary artery disease alters Ca2+ binding.

Hannah BL et al.

The Journal of Biological Chemistry, 2004

Coronary artery disease and the thrombospondin single nucleotide polymorphisms.

Stenina OI et al.

The International Journal of Biochemistry & Cell Biology, 2004

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