Publications:

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

Frontiers In Genetics

Jiang, Junhao J; Qin, Zhuo Z; Yan, Junxia J; Liu, Junyu J

Publication Date: 2023

Variant appearance in text: rs3918254

PubMed Link: 37065486

Variant Present in the following documents:

• Main text
• fgene-14-1123898.pdf

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Single-nucleotide polymorphisms of matrix metalloproteinase genes are associated with graft fibrosis after kidney transplantation.

Translational Andrology And Urology

Zhang, Hengcheng H; Gao, Xiang X; Gui, Zeping Z; Suo, Chuanjian C; Tao, Jun J; Han, Zhijian Z; Ju, Xiaobin X; Tan, Ruoyun R; Gu, Min M; Wang, Zijie Z

Publication Date: 2023-03-31

Variant appearance in text: rs3918254

PubMed Link: 37032759

Variant Present in the following documents:

• tau-12-03-375.pdf

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Matrix Metalloproteinases and Glaucoma.

Biomolecules

Kim, Moo Hyun MH; Lim, Su-Ho SH

Publication Date: 2022-09-25

Variant appearance in text: rs3918254

PubMed Link: 36291577

Variant Present in the following documents:

• Main text
• biomolecules-12-01368.pdf

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Association of the Gelatinase B/Metalloproteinase 9 (MMP-9) Gene Haplotype in Systemic Lupus Erythematosus (SLE) in the Pediatric Egyptian Population.

Children (Basel, Switzerland)

Attia, Zeinab R ZR; Zedan, Mohamed M MM; Mutawi, Thuraya M TM; Saad, Entsar A EA; Abd El Azeem, Rania A RA; El Basuni, Mohamed A MA

Publication Date: 2022-08-24

Variant appearance in text: rs3918254

PubMed Link: 36138580

Variant Present in the following documents:

• Main text
• children-09-01271.pdf

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs3918254

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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

International Urogynecology Journal

Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L

Publication Date: 2022-01-01

Variant appearance in text: rs3918254

PubMed Link: 34973089

Variant Present in the following documents:

• Main text
• 192_2021_Article_4917.pdf
• 192_2021_4917_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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

International Urogynecology Journal

Li, Lei L; Ma, Yidi Y; Yang, Hua H; Sun, Zhijing Z; Chen, Juan J; Zhu, Lan L

Publication Date: 2022-02

Variant appearance in text: rs3918254

PubMed Link: 34973089

Variant Present in the following documents:

• Main text
• 192_2021_Article_4917.pdf
• 192_2021_4917_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: MMP9: 997+5C>T; rs3918254

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: rs3918254

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

The Application Of Clinical Genetics

Kondkar, Altaf A AA

Publication Date: 2021

Variant appearance in text: rs3918254

PubMed Link: 33727852

Variant Present in the following documents:

• Main text
• tacg-14-89.pdf

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A novel loss-of-function mutation of PBK associated with human kidney stone disease.

Scientific Reports

Nettuwakul, Choochai C; Sawasdee, Nunghathai N; Praditsap, Oranud O; Rungroj, Nanyawan N; Pasena, Arnat A; Dechtawewat, Thanyaporn T; Deejai, Nipaporn N; Sritippayawan, Suchai S; Rojsatapong, Santi S; Chaowagul, Wipada W; Yenchitsomanus, Pa-Thai PT

Publication Date: 2020-06-24

Variant appearance in text: MMP9: 997+5C>T; rs3918254

PubMed Link: 32581305

Variant Present in the following documents:

• 41598_2020_66936_MOESM1_ESM.pdf

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Role of matrix metalloproteinase-9 gene polymorphisms in glaucoma: A hospital-based study in Chinese patients.

Journal Of Clinical Laboratory Analysis

Zhao, Fengqiong F; Fan, Zongshan Z; Huang, Xuewen X

Publication Date: 2020-03

Variant appearance in text: rs3918254

PubMed Link: 31713905

Variant Present in the following documents:

• Main text
• JCLA-34-e23105.pdf

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Association of the MMP-9 polymorphism and ischemic stroke risk in southern Chinese Han population.

Bmc Neurology

Gao, Ning N; Guo, Tie T; Luo, Han H; Tu, Guolong G; Niu, Fanglin F; Yan, Mengdan M; Xia, Ying Y

Publication Date: 2019-04-16

Variant appearance in text: rs3918254

PubMed Link: 30992065

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1285.pdf

View BVdb publication page

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MMP8 and MMP9 gene polymorphisms were associated with breast cancer risk in a Chinese Han population.

Scientific Reports

Wang, Kai K; Zhou, Yi Y; Li, Gang G; Wen, Xinli X; Kou, Yuan Y; Yu, Jiao J; He, Haifeng H; Zhao, Qian Q; Xue, Feng F; Wang, Jin J; Zhao, Xinhan X

Publication Date: 2018-09-07

Variant appearance in text: rs3918254

PubMed Link: 30194384

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31664.pdf

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: MMP9: 997+5C>T; rs3918254

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

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Genetic association of -1562C>T polymorphism in the MMP9 gene with primary glaucoma in a north Indian population.

Plos One

Thakur, Nanamika N; Kupani, Manu M; Pandey, Rajeev Kumar RK; Mannan, Rashim R; Pruthi, Archna A; Mehrotra, Sanjana S

Publication Date: 2018

Variant appearance in text: rs3918254

PubMed Link: 29432439

Variant Present in the following documents:

• Main text
• pone.0192636.pdf

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MMP9 polymorphism is associated with susceptibility to non-traumatic osteonecrosis of femoral head in a Chinese Han population.

Oncotarget

Liu, Yuan Y; Jia, Yanfei Y; Cao, Yuju Y; Zhao, Yan Y; Du, Jieli J; An, Feimeng F; Qi, Yuxin Y; Feng, Xue X; Jin, Tianbo T; Shi, Jianping J; Wang, Jianzhong J

Publication Date: 2017-10-10

Variant appearance in text: rs3918254

PubMed Link: 29137306

Variant Present in the following documents:

• Main text
• oncotarget-08-82835.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3918254

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Associations between matrix metalloproteinase gene polymorphisms and glaucoma susceptibility: a meta-analysis.

Bmc Ophthalmology

Wu, Ming-Yue MY; Wu, Yang Y; Zhang, Yong Y; Liu, Cai-Yun CY; Deng, Chun-Yan CY; Peng, Le L; Zhou, Lan L

Publication Date: 2017-04-21

Variant appearance in text: rs3918254

PubMed Link: 28431514

Variant Present in the following documents:

• Main text
• 12886_2017_Article_442.pdf

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A single-nucleotide polymorphism in MMP9 is associated with decreased risk of steroid-induced osteonecrosis of the femoral head.

Oncotarget

Du, Jieli J; Liu, Wanlin W; Jin, Tianbo T; Zhao, Zhenqun Z; Bai, Rui R; Xue, Huiqin H; Chen, Junyu J; Sun, Mingqi M; Zhang, Xiyang X; Wang, Guoqiang G; Wang, Jianzhong J

Publication Date: 2016-10-18

Variant appearance in text: rs3918254

PubMed Link: 27637086

Variant Present in the following documents:

• Main text
• oncotarget-07-68434.pdf

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Association of Matrix Metalloproteinase-9 (MMP9) Variants with Primary Angle Closure and Primary Angle Closure Glaucoma.

Plos One

Chen, Xueli X; Chen, Yuhong Y; Wiggs, Janey L JL; Pasquale, Louis R LR; Sun, Xinghuai X; Fan, Bao Jian BJ

Publication Date: 2016

Variant appearance in text: rs3918254

PubMed Link: 27272641

Variant Present in the following documents:

• Main text
• pone.0157093.pdf

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Polymorphisms in the Promoters of the MMP-2 and TIMP-2 Genes Are Associated with Spontaneous Deep Intracerebral Hemorrhage in the Taiwan Population.

Plos One

Chen, Yi Chun YC; Ho, Wei Min WM; Lee, Yun Shien YS; Chen, Huei Wen HW; Chen, Chiung-Mei CM

Publication Date: 2015

Variant appearance in text: rs3918254

PubMed Link: 26551785

Variant Present in the following documents:

• Main text
• pone.0142482.pdf

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: MMP9: 997+5C>T; rs3918254

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

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The association between matrix metalloprotease-9 gene polymorphisms and primary angle-closure glaucoma in a Chinese Han population.

International Journal Of Ophthalmology

Gao, Xiao-Jin XJ; Hou, Sheng-Ping SP; Li, Ping-Hua PH

Publication Date: 2014

Variant appearance in text: rs3918254

PubMed Link: 24967180

Variant Present in the following documents:

• Main text

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Modeling haplotype-haplotype interactions in case-control genetic association studies.

Frontiers In Genetics

Zhang, Li L; Liu, Ruitao R; Wang, Zhong Z; Culver, Daniel A DA; Wu, Rongling R

Publication Date: 2012

Variant appearance in text: rs3918254

PubMed Link: 22303409

Variant Present in the following documents:

• Main text

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Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population.

Molecular Vision

Awadalla, Mona S MS; Burdon, Kathryn P KP; Kuot, Abraham A; Hewitt, Alex W AW; Craig, Jamie E JE

Publication Date: 2011

Variant appearance in text: rs3918254

PubMed Link: 21655354

Variant Present in the following documents:

• Main text
• mv-v17-1420.pdf

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

Breast Cancer Research And Treatment

Beeghly-Fadiel, Alicia A; Lu, Wei W; Shu, Xiao-Ou XO; Long, Jirong J; Cai, Qiuyin Q; Xiang, Yongbin Y; Gao, Yu-Tang YT; Zheng, Wei W

Publication Date: 2011-04

Variant appearance in text: rs3918254

PubMed Link: 20725776

Variant Present in the following documents:

• Main text

View BVdb publication page

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