Varaico: Literature-Extracted Genetic Variants

Gene:MMP9
Variant:p.R574P
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MMP9

NM_004994.3:p.R574P

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.

Xing Y et al.

Frontiers in Genetics, 2025

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

Association between fibrosis-related gene polymorphism and long-term allograft outcome in renal transplant recipients.

Yin Y et al.

Bmc Medical Genomics, 2023

37867197 (PubMed )
Supplement: 12920_2023_1686_MOESM3_ESM.xlsx › Sheet1

Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia.

Ponomarenko I et al.

European Journal of Ophthalmology, 2022

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

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

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

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia.

Minyaylo O et al.

Scientific Reports, 2021

Novel Data about Association of the Functionally Significant Polymorphisms of the MMP9 Gene with Exfoliation Glaucoma in the Caucasian Population of Central Russia.

Starikova D et al.

Ophthalmic Research, 2021

Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia.

Dvornyk V et al.

Plos One, 2021

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

Evaluation of Matrix Metalloproteinase 9 Serum Concentration as a Biomarker in Malignant Mesothelioma.

Štrbac D et al.

Disease Markers, 2019

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

Huang WQ et al.

Frontiers in Genetics, 2019

Comprehensive analysis of damage associated SNPs of MMP9 gene: A computational approach.

Bhatnager R et al.

Computational Biology and Chemistry, 2018

Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab.

Madi A et al.

Journal of Medical Genetics, 2017

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf

Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma.

Štrbac D et al.

Disease Markers, 2017

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Association of MMP-9 gene polymorphisms with Behçet's disease risk.

Naouali A et al.

Immunology Letters, 2015

Association of MMP-9 Haplotypes and TIMP-1 Polymorphism with Spontaneous Deep Intracerebral Hemorrhage in the Taiwan Population.

Ho WM et al.

Plos One, 2015

Polymorphisms in metalloproteinase-9 are associated with the risk for asthma in Mexican pediatric patients.

Jiménez-Morales S et al.

Human Immunology, 2013

Gene variants in the angiogenesis pathway and prostate cancer.

Amankwah EK et al.

Carcinogenesis, 2012

Association of the MMP9 gene with childhood cedar pollen sensitization and pollinosis.

Inoue H et al.

Journal of Human Genetics, 2012

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Matrix metalloproteinase (MMP-9 and MMP-2) gene polymorphisms influence allograft survival in renal transplant recipients.

Singh R et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

Rudd MF et al.

Blood, 2006

A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection.

Natividad A et al.

Bmc Medical Genetics, 2006

Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Savas S et al.

Human Genomics, 2006

No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.

Yellore VS et al.

Investigative Ophthalmology & Visual Science, 2005

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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."