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: MMP9: A20V; rs1805088

PubMed Link: 37065486

Variant Present in the following documents:

• Main text
• fgene-14-1123898.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1805088

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MMP9: A20V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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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: MMP9: A20V; rs1805088

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1805088

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs1805088

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 24
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 21
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 26
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 25

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: MMP9: A20V; rs1805088

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers.

Npj Genomic Medicine

Fan, Shicai S; Tang, Jianxiong J; Li, Nan N; Zhao, Ying Y; Ai, Rizi R; Zhang, Kai K; Wang, Mengchi M; Du, Wei W; Wang, Wei W

Publication Date: 2019

Variant appearance in text: MMP9: A20V

PubMed Link: 30729033

Variant Present in the following documents:

View BVdb publication page

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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: 59C>T; A20V; rs1805088

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: MMP9: A20V; rs1805088

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.

Annals Of Clinical And Translational Neurology

Santos, Diana D; Coelho, Teresa T; Alves-Ferreira, Miguel M; Sequeiros, Jorge J; Mendonça, Denisa D; Alonso, Isabel I; Lemos, Carolina C; Sousa, Alda A

Publication Date: 2017-02

Variant appearance in text: rs1805088

PubMed Link: 28168209

Variant Present in the following documents:

• Main text
• ACN3-4-98.pdf

View BVdb publication page

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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: rs1805088

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: rs1805088

PubMed Link: 26551785

Variant Present in the following documents:

• Main text
• pone.0142482.pdf

View BVdb publication page

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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: 59C>T; A20V; rs1805088

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MMP9: A20V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MMP9: A20V; rs1805088

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: MMP9: A20V; rs1805088

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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

Circulation. Cardiovascular Genetics

Duellman, Tyler T; Warren, Christopher L CL; Peissig, Peggy P; Wynn, Martha M; Yang, Jay J

Publication Date: 2012-10-01

Variant appearance in text: MMP9: A20V; rs1805088

PubMed Link: 22942228

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MMP9: A20V; rs1805088

PubMed Link: 20725776

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Nan, Hongmei H; Niu, Tianhua T; Hunter, David J DJ; Han, Jiali J

Publication Date: 2008-12

Variant appearance in text: MMP9: Ala20Val; rs1805088

PubMed Link: 19064570

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Bmc Medical Genetics

Cotignola, Javier J; Reva, Boris B; Mitra, Nandita N; Ishill, Nicole N; Chuai, Shaokun S; Patel, Ami A; Shah, Shivang S; Vanderbeek, Gretchen G; Coit, Daniel D; Busam, Klaus K; Halpern, Allan A; Houghton, Alan A; Sander, Chris C; Berwick, Marianne M; Orlow, Irene I

Publication Date: 2007-03-08

Variant appearance in text: MMP9: A20V

PubMed Link: 17346338

Variant Present in the following documents:

• Main text
• 1471-2350-8-10.pdf

View BVdb publication page

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