MMP12 c.1067A>C ;(p.N356T)

Variant ID: 11-102736642-T-G

NM_002426.6(MMP12):c.1067A>C;(p.N356T)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


New Genetically Determined Markers of the Functional State of the Cardiovascular System.

Genes
Kondakova, Elena V EV; Ilina, Valeria M VM; Ermakova, Lyubov M LM; Krivonosov, Mikhail I MI; Kuchin, Kirill V KV; Vedunova, Maria V MV
Publication Date: 2023-01-10

Variant appearance in text: rs652438
PubMed Link: 36672926
Variant Present in the following documents:
  • Main text
  • genes-14-00185.pdf
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Genetic Variants Associated with Chronic Obstructive Pulmonary Disease Risk: Cumulative Epidemiological Evidence from Meta-Analyses and Genome-Wide Association Studies.

Canadian Respiratory Journal
Liu, Caiyang C; Ran, Ran R; Li, Xiaoliang X; Liu, Gaohua G; Xie, Xiaoyang X; Li, Ji J
Publication Date: 2022

Variant appearance in text: rs652438
PubMed Link: 35721789
Variant Present in the following documents:
  • CRJ2022-3982335.pdf
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MMP9 SNP and MMP SNP-SNP interactions increase the risk for ischemic stroke in the Han Hakka population.

Brain And Behavior
Fan, Daofeng D; Zheng, Chong C; Wu, Wenbao W; Chen, Yinjuan Y; Chen, Dongping D; Hu, Xiaohong X; Shen, Chaoxiong C; Chen, Mingsheng M; Li, Rongtong R; Chen, Yangui Y
Publication Date: 2022-02

Variant appearance in text: rs652438
PubMed Link: 34984852
Variant Present in the following documents:
  • Main text
  • BRB3-12-e2473.pdf
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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs652438
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Polymorphisms of the matrix metalloproteinase genes are associated with essential hypertension in a Caucasian population of Central Russia.

Scientific Reports
Moskalenko, Maria M; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Publication Date: 2021-03-04

Variant appearance in text: rs652438
PubMed Link: 33664351
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_84645.pdf
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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs652438
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
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Association of matrix metalloproteinase-12 polymorphisms with chronic obstructive pulmonary disease risk: A protocol for systematic review and meta analysis.

Medicine
Yang, Hongjing H; Zhang, Chuantao C; Wu, Jianying J; Xiao, Wei W; Xie, Xiaohong X; Zeng, Zhu Z; Chen, Keling K; Wang, Wujun W; An, Xing X; Tang, Wenjun W; Huang, Qingsong Q
Publication Date: 2020-07-31

Variant appearance in text: rs652438
PubMed Link: 32756209
Variant Present in the following documents:
  • Main text
  • medi-99-e21543.pdf
View BVdb publication page



Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics
Gu, Harvest F HF
Publication Date: 2019

Variant appearance in text: rs652438
PubMed Link: 31231424
Variant Present in the following documents:
  • Main text
  • fgene-10-00507.pdf
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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: rs652438
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs652438
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Tuberculosis and lung damage: from epidemiology to pathophysiology.

European Respiratory Review : An Official Journal Of The European Respiratory Society
Ravimohan, Shruthi S; Kornfeld, Hardy H; Weissman, Drew D; Bisson, Gregory P GP
Publication Date: 2018-03-31

Variant appearance in text: rs652438
PubMed Link: 29491034
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of Proteases in Chronic Obstructive Pulmonary Disease.

Frontiers In Pharmacology
Pandey, Kailash C KC; De, Sajal S; Mishra, Pradyumna K PK
Publication Date: 2017

Variant appearance in text: rs652438
PubMed Link: 28848433
Variant Present in the following documents:
  • Main text
  • fphar-08-00512.pdf
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Functional analysis implicating the SNP rs61552325 in ERBB2 as an effector for androgen-insensitive prostate cancer cell invasion.

Oncotarget
Xin, Xianxiang X; Gu, Yinmin Y; Chen, Yang Y; Huang, Yuanjie Y; Mo, Zengnan Z; Hu, Yanling Y
Publication Date: 2017-05-16

Variant appearance in text: rs652438
PubMed Link: 28422721
Variant Present in the following documents:
  • Main text
  • oncotarget-08-33745.pdf
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The Role of Matrix Metalloproteinase Polymorphisms in Ischemic Stroke.

International Journal Of Molecular Sciences
Chang, Jason J JJ; Stanfill, Ansley A; Pourmotabbed, Tayebeh T
Publication Date: 2016-08-12

Variant appearance in text: rs652438
PubMed Link: 27529234
Variant Present in the following documents:
  • Main text
  • ijms-17-01323.pdf
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Matrix Metalloproteinases in Non-Neoplastic Disorders.

International Journal Of Molecular Sciences
Tokito, Akinori A; Jougasaki, Michihisa M
Publication Date: 2016-07-21

Variant appearance in text: rs652438
PubMed Link: 27455234
Variant Present in the following documents:
  • Main text
  • ijms-17-01178.pdf
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The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.

Journal Of Human Hypertension
Do, A N AN; Lynch, A I AI; Claas, S A SA; Boerwinkle, E E; Davis, B R BR; Ford, C E CE; Eckfeldt, J H JH; Tiwari, H K HK; Arnett, D K DK; Irvin, M R MR
Publication Date: 2016-09

Variant appearance in text: rs652438
PubMed Link: 26791477
Variant Present in the following documents:
  • Main text
  • nihms731953.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs652438
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs652438
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.

Plos One
Arja, Cholendra C; Ravuri, Rajasekhara Reddy RR; Pulamaghatta, Venugopal N VN; Surapaneni, Krishna Mohan KM; Raya, Premanand P; Adimoolam, Chandrasekhar C; Kanala, Kodanda Reddy KR
Publication Date: 2014

Variant appearance in text: rs652438
PubMed Link: 24587150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of a FGFR-4 gene polymorphism with bronchopulmonary dysplasia and neonatal respiratory distress.

Disease Markers
Rezvani, Milad M; Wilde, Juliane J; Vitt, Patricia P; Mailaparambil, Beena B; Grychtol, Ruth R; Krueger, Marcus M; Heinzmann, Andrea A
Publication Date: 2013

Variant appearance in text: rs652438
PubMed Link: 24288432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using information interaction to discover epistatic effects in complex diseases.

Plos One
Anunciação, Orlando O; Vinga, Susana S; Oliveira, Arlindo L AL
Publication Date: 2013

Variant appearance in text: rs652438
PubMed Link: 24194833
Variant Present in the following documents:
  • Main text
  • pone.0076300.pdf
View BVdb publication page



Genes involved in innate immunity associated with asbestos-related fibrotic changes.

Occupational And Environmental Medicine
Kukkonen, Mari K MK; Vehmas, Tapio T; Piirilä, Päivi P; Hirvonen, Ari A
Publication Date: 2014-01

Variant appearance in text: rs652438
PubMed Link: 24142982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes.

Bmc Pulmonary Medicine
Kukkonen, Mari K MK; Tiili, Emmi E; Vehmas, Tapio T; Oksa, Panu P; Piirilä, Päivi P; Hirvonen, Ari A
Publication Date: 2013-06-04

Variant appearance in text: rs652438
PubMed Link: 23734748
Variant Present in the following documents:
  • Main text
  • 1471-2466-13-36.pdf
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs652438
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page



Single nucleotide polymorphisms in the matrix metalloproteinase gene family and the frequency and duration of gastroesophageal reflux disease influence the risk of esophageal adenocarcinoma.

International Journal Of Cancer
Cheung, Winson Y WY; Zhai, Rihong R; Bradbury, Penny P; Hopkins, Jessica J; Kulke, Matthew H MH; Heist, Rebecca S RS; Asomaning, Kofi K; Ma, Clement C; Xu, Wei W; Wang, Zhaoxi Z; Hooshmand, Suzanne S; Su, Li L; Christiani, David C DC; Liu, Geoffrey G
Publication Date: 2012-12-01

Variant appearance in text: rs652438
PubMed Link: 22422400
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication study for reported SNP associations with breast cancer survival.

Journal Of Cancer Research And Clinical Oncology
Beeghly-Fadiel, Alicia A; Zheng, Wei W; Lu, Wei W; Long, Jirong J; Zheng, Ying Y; Cai, Hui H; Gu, Kai K; Chen, Zhi Z; Cai, Qiuyin Q; Gao, Yu-Tang YT; Shu, Xiao Ou XO
Publication Date: 2012-06

Variant appearance in text: rs652438
PubMed Link: 22367361
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic associations of MMP9 and MMP12 variants with cardiovascular disease in patients with hypertension.

Plos One
Tanner, Rikki M RM; Lynch, Amy I AI; Brophy, Victoria H VH; Eckfeldt, John H JH; Davis, Barry R BR; Ford, Charles E CE; Boerwinkle, Eric E; Arnett, Donna K DK
Publication Date: 2011

Variant appearance in text: rs652438
PubMed Link: 21887284
Variant Present in the following documents:
  • Main text
  • pone.0023609.pdf
View BVdb publication page



Genetic variation in TIMP1 but not MMPs predict excess FEV1 decline in two general population-based cohorts.

Respiratory Research
van Diemen, C C CC; Postma, D S DS; Siedlinski, M M; Blokstra, A A; Smit, H A HA; Boezen, H M HM
Publication Date: 2011-04-27

Variant appearance in text: rs652438
PubMed Link: 21524282
Variant Present in the following documents:
  • Main text
View BVdb publication page



[Research progress of lung cancer on single nuleotide polymorphism].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Hua, Feng F; Zhou, Qinghua Q
Publication Date: 2011-02

Variant appearance in text: rs652438
PubMed Link: 21342648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the matrix metalloproteinase genes and diabetic nephropathy in type 1 diabetes.

Molecular Genetics And Metabolism
Kure, Masahiko M; Pezzolesi, Marcus G MG; Poznik, G David GD; Katavetin, Pisut P; Skupien, Jan J; Dunn, Jonathon S JS; Mychaleckyj, Josyf C JC; Warram, James H JH; Krolewski, Andrzej S AS
Publication Date: 2011-05

Variant appearance in text: rs652438
PubMed Link: 21277817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease.

Journal Of Human Genetics
Shimizu, Chisato C; Matsubara, Tomoyo T; Onouchi, Yoshihiro Y; Jain, Sonia S; Sun, Shelly S; Nievergelt, Caroline M CM; Shike, Hiroko H; Brophy, Victoria H VH; Takegawa, Tsuyoshi T; Furukawa, Susumu S; Akagi, Teiji T; Newburger, Jane W JW; Baker, Annette L AL; Burgner, David D; Hibberd, Martin L ML; Davila, Sonia S; Levin, Michael M; Mamtani, Manju M; He, Weijing W; Ahuja, Sunil K SK; Burns, Jane C JC
Publication Date: 2010-12

Variant appearance in text: rs652438
PubMed Link: 20827277
Variant Present in the following documents:
  • Main text
  • nihms-225888.pdf
View BVdb publication page



Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.

Bmc Medical Genetics
Haq, Imran I; Chappell, Sally S; Johnson, Simon R SR; Lotya, Juzer J; Daly, Leslie L; Morgan, Kevin K; Guetta-Baranes, Tamar T; Roca, Josep J; Rabinovich, Roberto R; Millar, Ann B AB; Donnelly, Seamas C SC; Keatings, Vera V; MacNee, William W; Stolk, Jan J; Hiemstra, Pieter S PS; Miniati, Massimo M; Monti, Simonetta S; O'Connor, Clare M CM; Kalsheker, Noor N
Publication Date: 2010-01-15

Variant appearance in text: rs652438
PubMed Link: 20078883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lung cancer susceptibility model based on age, family history and genetic variants.

Plos One
Young, Robert P RP; Hopkins, Raewyn J RJ; Hay, Bryan A BA; Epton, Michael J MJ; Mills, Graham D GD; Black, Peter N PN; Gardner, Heather D HD; Sullivan, Richard R; Gamble, Gregory D GD
Publication Date: 2009

Variant appearance in text: rs652438
PubMed Link: 19390575
Variant Present in the following documents:
View BVdb publication page



Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis.

Carcinogenesis
Bradbury, Penelope A PA; Zhai, Rihong R; Hopkins, Jessica J; Kulke, Matthew H MH; Heist, Rebecca S RS; Singh, Simron S; Zhou, Wei W; Ma, Clement C; Xu, Wei W; Asomaning, Kofi K; Ter-Minassian, Monica M; Wang, Zhaoxi Z; Su, Li L; Christiani, David C DC; Liu, Geoffrey G
Publication Date: 2009-05

Variant appearance in text: rs652438
PubMed Link: 19321798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Concordance of genotypes in pre- and post-lung transplantation DNA samples.

American Journal Of Respiratory Cell And Molecular Biology
DeMeo, Dawn L DL; Reilly, John J JJ; Ginns, Leo C LC; Sylvia, Jody S JS; Silverman, Edwin K EK
Publication Date: 2005-10

Variant appearance in text: rs652438
PubMed Link: 15994430
Variant Present in the following documents:
  • Main text
View BVdb publication page