Varaico: Literature-Extracted Genetic Variants

Gene:MMP9
Variant:p.A20V
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MMP9

NM_004994.3:p.A20V

Associated Papers

Matrix metalloproteinase-9 deficiency confers resilience in fibrodysplasia ossificans progressiva in a man and mice.

Lounev V et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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

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

Methodological quality assessment of genetic studies on brain arteriovenous malformation related hemorrhage: A cross-sectional study.

Jiang J et al.

Frontiers in Genetics, 2023

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

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

Bhatnager R et al.

Computational Biology and Chemistry, 2018

COL4A3 Gene Variants and Diabetic Kidney Disease in MODY.

Wang Y et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2018

Functional polymorphisms in the matrix metalloproteinase genes and their association with bladder cancer risk and recurrence: a mini-review.

Wieczorek E et al.

International Journal of Urology : Official Journal of the Japanese Urological Association, 2014

Matrix metalloproteinase-9 genotype as a potential genetic marker for abdominal aortic aneurysm.

Duellman T et al.

Circulation. Cardiovascular Genetics, 2012

Functional SNP -1562C/T in the promoter region of MMP9 and recurrent early pregnancy loss.

Singh K et al.

Reproductive Biomedicine Online, 2012

MMP9 polymorphisms and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study.

Beeghly-Fadiel A et al.

Breast Cancer Research and Treatment, 2011

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

Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma.

Cotignola J et al.

Bmc Medical Genetics, 2007

A functional polymorphism in MMP-9 is associated with childhood atopic asthma.

Nakashima K et al.

Biochemical and Biophysical Research Communications, 2006

Matrix metalloproteinase-9 coding sequence single-nucleotide polymorphisms in caucasians with intracranial aneurysms.

Krex D et al.

Neurosurgery, 2004

Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP9) gene in ESRD patients.

Hirakawa S et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003

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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."