Publications:

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The Biology and Function of Tissue Inhibitor of Metalloproteinase 2 in the Lungs.

Pulmonary Medicine

Costanzo, Louis L; Soto, Brian B; Meier, Richard R; Geraghty, Patrick P

Publication Date: 2022

Variant appearance in text: rs2277698

PubMed Link: 36624735

Variant Present in the following documents:

• PM2022-3632764.pdf

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: TIMP2: S101S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

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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: TIMP2: S101S; rs2277698

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Effects of TIMP1 rs4898 Gene Polymorphism on Early-Onset Preeclampsia Development and Placenta Weight.

Diagnostics (Basel, Switzerland)

Mrozikiewicz, Aleksandra E AE; Kurzawińska, Grażyna G; Goździewicz-Szpera, Agata A; Potograbski, Michał M; Ożarowski, Marcin M; Karpiński, Tomasz M TM; Barlik, Magdalena M; Jędrzejczak, Piotr P; Drews, Krzysztof K

Publication Date: 2022-07-05

Variant appearance in text: TIMP2: S101=; rs2277698

PubMed Link: 35885543

Variant Present in the following documents:

• Main text
• diagnostics-12-01637.pdf

View BVdb publication page

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Germline Variants in Angiogenesis-Related Genes Contribute to Clinical Outcome in Head and Neck Squamous Cell Carcinoma.

Cancers

Butkiewicz, Dorota D; Gdowicz-Kłosok, Agnieszka A; Krześniak, Małgorzata M; Rutkowski, Tomasz T; Łasut-Szyszka, Barbara B; Składowski, Krzysztof K

Publication Date: 2022-04-06

Variant appearance in text: rs2277698

PubMed Link: 35406617

Variant Present in the following documents:

• Main text
• cancers-14-01844.pdf

View BVdb publication page

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Systematic review of preterm birth multi-omic biomarker studies.

Expert Reviews In Molecular Medicine

Gupta, Juhi K JK; Alfirevic, Ana A

Publication Date: 2022-04-05

Variant appearance in text: rs2277698

PubMed Link: 35379367

Variant Present in the following documents:

• Main text
• S1462399422000138a.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: TIMP2: S101S

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, 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: 2022-01-01

Variant appearance in text: TIMP2: S101S; rs2277698

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: TIMP2: S101S; rs2277698

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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Bioinformatics analysis revealing prognostic significance of TIMP2 gene in breast cancer.

Medicine

Chen, Wen-Quan WQ; Yang, Su-Jin SJ; Xu, Wen-Xiu WX; Deng, Fei F; Wang, Dan-Dan DD; Tang, Jin-Hai JH

Publication Date: 2021-10-22

Variant appearance in text: rs2277698

PubMed Link: 34678879

Variant Present in the following documents:

• Main text
• medi-100-e27489.pdf

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: TIMP2: Ser101Ser; rs2277698

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Effect of TIMP2/TIMP3 genes on the risk of osteosarcoma in Zhejiang population.

Medicine

Wu, Zhongwei Z; Chen, Huali H; Pan, Liwei L; Yu, Weiyang W; Lou, Chao C; Chen, Jian J; He, Dengwei D

Publication Date: 2021-03-19

Variant appearance in text: rs2277698

PubMed Link: 33725949

Variant Present in the following documents:

• Main text
• medi-100-e24818.pdf

View BVdb publication page

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TIMP-2 gene rs4789936 polymorphism is associated with increased risk of breast cancer and poor prognosis in Southern Chinese women.

Aging

Liu, Gaoming G; Luo, Jiayou J

Publication Date: 2020-10-07

Variant appearance in text: rs2277698

PubMed Link: 33027062

Variant Present in the following documents:

• Main text
• aging-12-103789.pdf

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: TIMP2: S101S

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

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: TIMP2: S101S; rs2277698

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women.

Bmc Cancer

Wang, Kai K; Wang, Guanying G; Huang, Shangke S; Luo, Anqi A; Jing, Xin X; Li, Gang G; Zhou, Yi Y; Zhao, Xinhan X

Publication Date: 2019-05-14

Variant appearance in text: rs2277698

PubMed Link: 31088428

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5655.pdf

View BVdb publication page

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Proteolysis is the most fundamental property of malignancy and its inhibition may be used therapeutically (Review).

International Journal Of Molecular Medicine

Wyganowska-Świątkowska, Marzena M; Tarnowski, Mateusz M; Murtagh, Daniel D; Skrzypczak-Jankun, Ewa E; Jankun, Jerzy J

Publication Date: 2019-01

Variant appearance in text: rs2277698

PubMed Link: 30431071

Variant Present in the following documents:

• Main text
• ijmm-43-01-0015.pdf

View BVdb publication page

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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: TIMP2: 303G>A; rs2277698

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population.

Oncotarget

Guo, Tie T; Hao, Haizhen H; Zhou, Lv L; Zhou, Feng F; Yu, Dan D

Publication Date: 2018-01-12

Variant appearance in text: rs2277698

PubMed Link: 29435135

Variant Present in the following documents:

• Main text
• oncotarget-09-4698.pdf

View BVdb publication page

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Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain.

Plos One

Perera, Romain Shanil RS; Dissanayake, Poruwalage Harsha PH; Senarath, Upul U; Wijayaratne, Lalith Sirimevan LS; Karunanayake, Aranjan Lional AL; Dissanayake, Vajira Harshadeva Weerabaddana VHW

Publication Date: 2017

Variant appearance in text: rs2277698

PubMed Link: 28742099

Variant Present in the following documents:

• Main text
• pone.0181580.pdf

View BVdb publication page

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Association of candidate gene polymorphisms with clinical subtypes of preterm birth in a Latin American population.

Pediatric Research

Gimenez, Lucas G LG; Momany, Allison M AM; Poletta, Fernando A FA; Krupitzki, Hugo B HB; Gili, Juan A JA; Busch, Tamara D TD; Saleme, Cesar C; Cosentino, Viviana R VR; Pawluk, Mariela S MS; Campaña, Hebe H; Gadow, Enrique C EC; Murray, Jeffrey C JC; Lopez-Camelo, Jorge S JS

Publication Date: 2017-09

Variant appearance in text: rs2277698

PubMed Link: 28426651

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes.

Plos One

Perera, Romain Shanil RS; Dissanayake, Poruwalage Harsha PH; Senarath, Upul U; Wijayaratne, Lalith Sirimevan LS; Karunanayake, Aranjan Lional AL; Dissanayake, Vajira Harshadeva Weerabaddana VH

Publication Date: 2017

Variant appearance in text: rs2277698

PubMed Link: 28081267

Variant Present in the following documents:

• Main text

View BVdb publication page

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TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population.

Oncotarget

Xu, Pengcheng P; Guo, Wen W; Jin, Tianbo T; Wang, Jihong J; Fan, Dongsheng D; Hao, Zengtao Z; Jing, Shangfei S; Han, ChaoQian C; Du, Jieli J; Jiang, Dong D; Wen, Shuzheng S; Wang, Jianzhong J

Publication Date: 2017-01-03

Variant appearance in text: rs2277698

PubMed Link: 27901480

Variant Present in the following documents:

• Main text
• oncotarget-08-1166.pdf

View BVdb publication page

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Association between genetic polymorphisms of MMP8 and the risk of steroid-induced osteonecrosis of the femoral head in the population of northern China.

Medicine

Du, Jieli J; Jin, Tianbo T; Cao, Yuju Y; Chen, Junyu J; Guo, Yongchang Y; Sun, Mingqi M; Li, Jian J; Zhang, Xiyang X; Wang, Guoqiang G; Wang, Jianzhong J

Publication Date: 2016-09

Variant appearance in text: rs2277698

PubMed Link: 27631232

Variant Present in the following documents:

• medi-95-e4794.pdf

View BVdb publication page

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Genetic variation associated with preterm birth in African-American women.

American Journal Of Obstetrics And Gynecology

Frey, Heather A HA; Stout, Molly J MJ; Pearson, Laurel N LN; Tuuli, Methodius G MG; Cahill, Alison G AG; Strauss, Jerome F JF; Gomez, Luis M LM; Parry, Samuel S; Allsworth, Jenifer E JE; Macones, George A GA

Publication Date: 2016-08

Variant appearance in text: rs2277698

PubMed Link: 26979631

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study.

Bmc Pregnancy And Childbirth

Ramos, Bruna Ribeiro de Andrade BR; Mendes, Niele Dias ND; Tanikawa, Aline Aki AA; Amador, Marcos Antônio Trindade MA; dos Santos, Ney Pereira Carneiro NP; dos Santos, Sidney Emanuel Batista SE; Castelli, Erick C EC; Witkin, Steven S SS; da Silva, Márcia Guimarães MG

Publication Date: 2016-02-05

Variant appearance in text: rs2277698

PubMed Link: 26846412

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into genetic susceptibility in the etiology of spontaneous preterm birth.

The Application Of Clinical Genetics

Parets, Sasha E SE; Knight, Anna K AK; Smith, Alicia K AK

Publication Date: 2015

Variant appearance in text: rs2277698

PubMed Link: 26715857

Variant Present in the following documents:

• Main text
• tacg-8-283.pdf

View BVdb publication page

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Functional consequences of copy number variants in miscarriage.

Molecular Cytogenetics

Wen, Jiadi J; Hanna, Courtney W CW; Martell, Sally S; Leung, Peter Ck PC; Lewis, Suzanne Me SM; Robinson, Wendy P WP; Stephenson, Mary D MD; Rajcan-Separovic, Evica E

Publication Date: 2015

Variant appearance in text: rs2277698

PubMed Link: 25674159

Variant Present in the following documents:

• Main text
• 13039_2015_Article_109.pdf

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: TIMP2: S101S; rs2277698

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: TIMP2: S101S

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3

View BVdb publication page

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Synergy and interactions among biological pathways leading to preterm premature rupture of membranes.

Reproductive Sciences (Thousand Oaks, Calif.)

Lannon, Sophia M R SM; Vanderhoeven, Jeroen P JP; Eschenbach, David A DA; Gravett, Michael G MG; Adams Waldorf, Kristina M KM

Publication Date: 2014-10

Variant appearance in text: rs2277698

PubMed Link: 24840939

Variant Present in the following documents:

• Main text

View BVdb publication page

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: rs2277698

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s004.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: TIMP2: S101S; rs2277698

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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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: rs2277698

PubMed Link: 24142982

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2277698

PubMed Link: 23734748

Variant Present in the following documents:

• Main text
• 1471-2466-13-36.pdf

View BVdb publication page

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Genes and abdominal aortic aneurysm.

Annals Of Vascular Surgery

Hinterseher, Irene I; Tromp, Gerard G; Kuivaniemi, Helena H

Publication Date: 2011-04

Variant appearance in text: rs2277698

PubMed Link: 21146954

Variant Present in the following documents:

• Main text

View BVdb publication page

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The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.

Human Molecular Genetics

Castaldi, Peter J PJ; Cho, Michael H MH; Cohn, Matthew M; Langerman, Fawn F; Moran, Sienna S; Tarragona, Nestor N; Moukhachen, Hala H; Venugopal, Radhika R; Hasimja, Delvina D; Kao, Esther E; Wallace, Byron B; Hersh, Craig P CP; Bagade, Sachin S; Bertram, Lars L; Silverman, Edwin K EK; Trikalinos, Thomas A TA

Publication Date: 2010-02-01

Variant appearance in text: rs2277698

PubMed Link: 19933216

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

Bioinformatics And Biology Insights

Kan, Takatsugu T; Paun, Bogdan C BC; Mori, Yuriko Y; Sato, Fumiaki F; Jin, Zhe Z; Hamilton, James P JP; Ito, Tetsuo T; Cheng, Yulan Y; David, Stefan S; Olaru, Alexandru V AV; Yang, Jian J; Agarwal, Rachana R; Abraham, John M JM; Meltzer, Stephen J SJ

Publication Date: 2007

Variant appearance in text: rs2277698

PubMed Link: 18389087

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of emphysema distribution in the national emphysema treatment trial.

American Journal Of Respiratory And Critical Care Medicine

DeMeo, Dawn L DL; Hersh, Craig P CP; Hoffman, Eric A EA; Litonjua, Augusto A AA; Lazarus, Ross R; Sparrow, David D; Benditt, Joshua O JO; Criner, Gerard G; Make, Barry B; Martinez, Fernando J FJ; Scanlon, Paul D PD; Sciurba, Frank C FC; Utz, James P JP; Reilly, John J JJ; Silverman, Edwin K EK

Publication Date: 2007-07-01

Variant appearance in text: rs2277698

PubMed Link: 17363767

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics of chronic obstructive pulmonary disease.

Respiratory Research

Wood, Alice M AM; Stockley, Robert A RA

Publication Date: 2006-10-20

Variant appearance in text: rs2277698

PubMed Link: 17054776

Variant Present in the following documents:

• Main text
• 1465-9921-7-130.pdf

View BVdb publication page

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Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.

American Journal Of Respiratory Cell And Molecular Biology

Hersh, Craig P CP; Demeo, Dawn L DL; Lange, Christoph C; Litonjua, Augusto A AA; Reilly, John J JJ; Kwiatkowski, David D; Laird, Nan N; Sylvia, Jody S JS; Sparrow, David D; Speizer, Frank E FE; Weiss, Scott T ST; Silverman, Edwin K EK

Publication Date: 2005-07

Variant appearance in text: TIMP2: Ser101Ser; rs2277698

PubMed Link: 15817713

Variant Present in the following documents:

• Main text

View BVdb publication page

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