Publications:

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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: rs3918251

PubMed Link: 37032759

Variant Present in the following documents:

• Main text
• tau-12-03-375.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs3918251

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs3918251

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival.

Cancer Science

He, Yuanmin Y; Liu, Hongliang H; Luo, Sheng S; Amos, Christopher I CI; Lee, Jeffrey E JE; Li, Xin X; Nan, Hongmei H; Wei, Qingyi Q

Publication Date: 2021-10

Variant appearance in text: rs3918251

PubMed Link: 34375487

Variant Present in the following documents:

• Main text
• CAS-112-4355.pdf

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Genetic variants of EML1 and HIST1H4E in myeloid cell-related pathway genes independently predict cutaneous melanoma-specific survival.

American Journal Of Cancer Research

He, Yuanmin Y; Liu, Hongliang H; Luo, Sheng S; Amos, Christopher I CI; Lee, Jeffrey E JE; Yang, Keming K; Qureshi, Abrar A AA; Han, Jiali J; Wei, Qingyi Q

Publication Date: 2021

Variant appearance in text: rs3918251

PubMed Link: 34249459

Variant Present in the following documents:

• Main text

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: 371+44A>G; rs3918251

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Increased pro-MMP9 plasma levels are associated with neovascular age-related macular degeneration and with the risk allele of rs142450006 near MMP9.

Molecular Vision

Lauwen, Susette S; Lefeber, Dirk J DJ; Fauser, Sascha S; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2021

Variant appearance in text: rs3918251

PubMed Link: 33907369

Variant Present in the following documents:

• Main text

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: rs3918251

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Functional Roles of Matrix Metalloproteinases and Their Inhibitors in Melanoma.

Cells

Napoli, Salvatore S; Scuderi, Chiara C; Gattuso, Giuseppe G; Bella, Virginia Di VD; Candido, Saverio S; Basile, Maria Sofia MS; Libra, Massimo M; Falzone, Luca L

Publication Date: 2020-05-07

Variant appearance in text: rs3918251

PubMed Link: 32392801

Variant Present in the following documents:

• Main text
• cells-09-01151.pdf

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: MMP9: 371+44A>G; rs3918251

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival.

Molecular Carcinogenesis

Xu, Yinghui Y; Wang, Yanru Y; Liu, Hongliang H; Shi, Qiong Q; Zhu, Dakai D; Amos, Christopher I CI; Fang, Shenying S; Lee, Jeffrey E JE; Hyslop, Terry T; Li, Xin X; Han, Jiali J; Wei, Qingyi Q

Publication Date: 2018-01

Variant appearance in text: rs3918251

PubMed Link: 28796414

Variant Present in the following documents:

• Main text

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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: rs3918251

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs3918251

PubMed Link: 20078883

Variant Present in the following documents:

• Main text
• 1471-2350-11-7.pdf

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