Varaico: Literature-Extracted Genetic Variants

Gene:MMP3
Variant:p.K45E
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MMP3

NM_002422.5:p.K45E

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

Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.

Boukhalfa W et al.

Frontiers in Aging Neuroscience, 2023

37342358 (PubMed )
Supplement: Table_2.XLSX › Table_2_SNPnexus_annotation

Matrix Metalloproteinase Gene Polymorphisms Are Associated with Breast Cancer in the Caucasian Women of Russia.

Pavlova N et al.

International Journal of Molecular Sciences, 2022

New insights into the role of matrix metalloproteinase 3 (MMP3) in bone.

Jehan F et al.

Faseb Bioadvances, 2022

The polymorphisms of extracellular matrix-remodeling genes are associated with pelvic organ prolapse.

Li L et al.

International Urogynecology Journal, 2022

34973089 (PubMed )
Supplement: 192_2021_4917_MOESM1_ESM.xls › Sheet1

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

Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

Younes S et al.

International Journal of Obesity (2005), 2021

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

A protective polymorphism in MMP16, improved blood gas levels, and chronic obstructive pulmonary diseases: Family and two population-based studies.

Zhang Z et al.

Human Mutation, 2020

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1

The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population.

Huang WQ et al.

Frontiers in Genetics, 2019

MMP-3 (-1171 5A/6A; Lys45Glu) variants affect serum levels of matrix metalloproteinase (MMP)-3 and correlate with severity of COPD: A study of MMP-3, MMP-7 and MMP-12 in a Tunisian population.

Bchir S et al.

The Journal of Gene Medicine, 2018

Role of MMP-1 (-519A/G, -1607 1G/2G), MMP-3 (Lys45Glu), MMP-7 (-181A/G), and MMP-12 (-82A/G) Variants and Plasma MMP Levels on Obesity-Related Phenotypes and Microvascular Reactivity in a Tunisian Population.

Boumiza S et al.

Disease Markers, 2017

The Role of Matrix Metalloproteinase Polymorphisms in Ischemic Stroke.

Chang JJ et al.

International Journal of Molecular Sciences, 2016

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1

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-A2-A0EM-01A.domain

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

Kauwe JS et al.

Plos Genetics, 2014

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3C

Effect of gene polymorphisms on the mechanical properties of human tendon structures.

Kubo K et al.

Springerplus, 2013

MMP3 and TIMP1 variants contribute to chronic periodontitis and may be implicated in disease progression.

Letra A et al.

Journal of Clinical Periodontology, 2012

Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

Letra A et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

Genetic susceptibility to periapical disease: conditional contribution of MMP2 and MMP3 genes to the development of periapical lesions and healing response.

Menezes-Silva R et al.

Journal of Endodontics, 2012

Matrix metalloproteinase-3 gene polymorphisms are associated with ischemic stroke.

Kim SK et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2012

Influence of variations across the MMP-1 and -3 genes on the serum levels of MMP-1 and -3 and disease activity in rheumatoid arthritis.

Chen Y et al.

Genes and Immunity, 2012

Matrix metalloproteinase-9 gene polymorphisms and chronic kidney disease.

Okada R et al.

American Journal of Nephrology, 2012

Single-nucleotide polymorphisms of matrix metalloproteinases and their inhibitors in gastrointestinal cancer.

Langers AM et al.

World Journal of Gastrointestinal Oncology, 2011

MMP2 genetic variation is associated with measures of fibrous cap thickness: The Atherosclerosis Risk in Communities Carotid MRI Study.

Volcik KA et al.

Atherosclerosis, 2010

Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.

Yoshida T et al.

International Journal of Molecular Medicine, 2009

Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.

Ricketts C et al.

Plos One, 2009

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

Yoshida T et al.

International Journal of Molecular Medicine, 2009

Association of genetic variants with chronic kidney disease in Japanese individuals.

Yoshida T et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2009

Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.

Nan H et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Genetic factors for obesity.

Yamada Y et al.

International Journal of Molecular Medicine, 2006

Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction.

Beyzade S et al.

Journal of the American College of Cardiology, 2003

Association of polymorphisms of THBS2 and HSPA8 with hypertension in Japanese individuals with chronic kidney disease.

Oguri M et al.

Molecular Medicine Reports, 0

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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."