TIMP3 c.249T>C ;(p.H83=)

Variant ID: 22-33253280-T-C

NM_000362.4(TIMP3):c.249T>C;(p.H83=)

This variant was identified in 46 publications

View GRCh38 version.




Publications:


Impact of Clinicopathological Characteristics and Tissue Inhibitor of Metalloproteinase-3 Polymorphism Rs9619311 on Biochemical Recurrence in Taiwanese Patients with Prostate Cancer.

International Journal Of Environmental Research And Public Health
Hsieh, Chun-Yu CY; Lin, Chia-Yen CY; Wang, Shian-Shiang SS; Chou, Ying-Erh YE; Chien, Ming-Hsien MH; Wen, Yu-Ching YC; Hsieh, Ming-Ju MJ; Yang, Shun-Fa SF
Publication Date: 2022-12-25

Variant appearance in text: rs9862
PubMed Link: 36612628
Variant Present in the following documents:
  • Main text
  • ijerph-20-00306.pdf
View BVdb publication page



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: TIMP3: H83H; rs9862
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: SYN3: 711+7622A>G; rs9862
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



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: rs9862
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



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: rs9862
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Effect of tissue inhibitor of metalloproteinases-3 genetics polymorphism on clinicopathological characteristics of uterine cervical cancer patients in Taiwan.

International Journal Of Medical Sciences
Chung, Jui-Fu JF; Chen, Chia-Lin CL; Nassef, Yasser Y; Shiu, Bei-Hao BH; Wang, Chun-Hao CH; Kuo, Fu-Hsuan FH; Hsiao, Yi-Hsuan YH; Yang, Shun-Fa SF; Wang, Po-Hui PH
Publication Date: 2022

Variant appearance in text: rs9862
PubMed Link: 35813301
Variant Present in the following documents:
  • ijmsv19p1013.pdf
View BVdb publication page



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: rs9862
PubMed Link: 35406617
Variant Present in the following documents:
  • Main text
  • cancers-14-01844.pdf
View BVdb publication page



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: TIMP3: H83H; rs9862
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



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: TIMP3: H83H; rs9862
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



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: TIMP3: 249T>C; H83H; rs9862
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: TIMP3: His83His; rs9862
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs9862
PubMed Link: 33725949
Variant Present in the following documents:
  • Main text
  • medi-100-e24818.pdf
View BVdb publication page



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: TIMP3: 249T>C; H83H; rs9862
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
View BVdb publication page



Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: TIMP3: 249T>C; H83H; rs9862
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Associations of TIMP-3 Genetic Polymorphisms with EGFR Statuses and Cancer Clinicopathologic Development in Lung Adenocarcinoma Patients.

International Journal Of Molecular Sciences
Chang, Jer-Hwa JH; Lai, Tsung-Ching TC; Yang, Po-Jen PJ; Shih, Pei-Chun PC; Yang, Yi-Chieh YC; Lee, Kai-Ling KL; Liu, Tu-Chen TC; Tsao, Thomas Chang-Yao TC; Yang, Shun-Fa SF; Chien, Ming-Hsien MH
Publication Date: 2020-10-28

Variant appearance in text: rs9862
PubMed Link: 33126605
Variant Present in the following documents:
  • Main text
  • ijms-21-08023.pdf
View BVdb publication page



Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports
Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B
Publication Date: 2020-09-01

Variant appearance in text: SYN3: 711+7622A>G
PubMed Link: 32873813
Variant Present in the following documents:
  • 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: TIMP3: H83H; rs9862
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: TIMP3: 249T>C; His83=; rs9862
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: TIMP3: H83H; rs9862
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



TIMP-3 as a therapeutic target for cancer.

Therapeutic Advances In Medical Oncology
Su, Chun-Wen CW; Lin, Chiao-Wen CW; Yang, Wei-En WE; Yang, Shun-Fa SF
Publication Date: 2019

Variant appearance in text: rs9862
PubMed Link: 31360238
Variant Present in the following documents:
  • Main text
  • 10.1177_1758835919864247.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: TIMP3: 249T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The genetic basis of Turner syndrome aortopathy.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Corbitt, Holly H; Gutierrez, Jacob J; Silberbach, Michael M; Maslen, Cheryl L CL
Publication Date: 2019-03

Variant appearance in text: TIMP3: His83=; rs9862
PubMed Link: 30770620
Variant Present in the following documents:
  • Main text
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: rs9862
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome.

Plos Genetics
Corbitt, Holly H; Morris, Shaine A SA; Gravholt, Claus H CH; Mortensen, Kristian H KH; Tippner-Hedges, Rebecca R; Silberbach, Michael M; Maslen, Cheryl L CL; ,
Publication Date: 2018-10

Variant appearance in text: rs9862
PubMed Link: 30281655
Variant Present in the following documents:
  • Main text
  • pgen.1007692.pdf
View BVdb publication page



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: TIMP3: 249T>C; H83H; rs9862
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



The Association of BRAF V600E Mutation With Tissue Inhibitor of Metalloproteinase-3 Expression and Clinicopathological Features in Papillary Thyroid Cancer.

International Journal Of Endocrinology And Metabolism
Zarkesh, Maryam M; Zadeh-Vakili, Azita A; Azizi, Fereidoun F; Fanaei, S Ahmad SA; Foroughi, Forough F; Hedayati, Mehdi M
Publication Date: 2018-04

Variant appearance in text: rs9862
PubMed Link: 29868127
Variant Present in the following documents:
  • Main text
  • ijem-16-02-56120.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: TIMP3: H83H; rs9862
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.

Frontiers In Genetics
Qi, Yu-He YH; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Chen, Jun-Yi JY; Huang, Wan-Jing WJ; Tian, Guo-Hong GH; Wang, Min M; Gan, De-Kang DK; Wu, Ji-Hong JH; Xu, Ge-Zhi GZ
Publication Date: 2017

Variant appearance in text: rs9862
PubMed Link: 28890726
Variant Present in the following documents:
View BVdb publication page



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: rs9862
PubMed Link: 28742099
Variant Present in the following documents:
  • Main text
  • pone.0181580.pdf
View BVdb publication page



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: TIMP3: H83H; rs9862
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Plasma levels of the tissue inhibitor matrix metalloproteinase-3 as a potential biomarker in oral cancer progression.

International Journal Of Medical Sciences
Su, Chun-Wen CW; Su, Bo-Feng BF; Chiang, Whei-Ling WL; Yang, Shun-Fa SF; Chen, Mu-Kuan MK; Lin, Chiao-Wen CW
Publication Date: 2017

Variant appearance in text: rs9862
PubMed Link: 28138307
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs9862
PubMed Link: 28081267
Variant Present in the following documents:
  • Main text
  • pone.0169835.pdf
View BVdb publication page



Polymorphisms and Plasma Levels of Tissue Inhibitor of Metalloproteinase-3: Impact on Genetic Susceptibility and Clinical Outcome of Oral Cancer.

Medicine
Su, Chun-Wen CW; Huang, Yi-Wen YW; Chen, Mu-Kuan MK; Su, Shih-Chi SC; Yang, Shun-Fa SF; Lin, Chiao-Wen CW
Publication Date: 2015-11

Variant appearance in text: TIMP3: 249T>C; rs9862
PubMed Link: 26579821
Variant Present in the following documents:
  • Main text
  • medi-94-e2092.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: TIMP3: H83H; rs9862
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



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: TIMP3: 249T>C; H83H; rs9862
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
  • pone.0140684.s004.xlsx, sheet 5
  • pone.0140684.s004.xlsx, sheet 4
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: TIMP3: H83H; rs9862
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Analysis of gene-gene interactions among common variants in candidate cardiovascular genes in coronary artery disease.

Plos One
Musameh, Muntaser D MD; Wang, William Y S WY; Nelson, Christopher P CP; Lluís-Ganella, Carla C; Debiec, Radoslaw R; Subirana, Isaac I; Elosua, Roberto R; Balmforth, Anthony J AJ; Ball, Stephen G SG; Hall, Alistair S AS; Kathiresan, Sekar S; Thompson, John R JR; Lucas, Gavin G; Samani, Nilesh J NJ; Tomaszewski, Maciej M
Publication Date: 2015

Variant appearance in text: rs9862
PubMed Link: 25658981
Variant Present in the following documents:
  • Main text
  • pone.0117684.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: TIMP3: H83H
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: TIMP3: H83H; rs9862
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



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: TIMP3: H83H
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s003.xls, sheet 3
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: TIMP3: H83H; rs9862
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Polymorphisms of the tissue inhibitor of metalloproteinase 3 gene are associated with resistance to high-altitude pulmonary edema (HAPE) in a Japanese population: a case control study using polymorphic microsatellite markers.

Plos One
Kobayashi, Nobumitsu N; Hanaoka, Masayuki M; Droma, Yunden Y; Ito, Michiko M; Katsuyama, Yoshihiko Y; Kubo, Keishi K; Ota, Masao M
Publication Date: 2013

Variant appearance in text: rs9862
PubMed Link: 23991023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction.

Plos One
Bashash, Morteza M; Shah, Amil A; Hislop, Greg G; Treml, Martin M; Bretherick, Karla K; Janoo-Gilani, Rozmin R; Leach, Stephen S; Le, Nhu N; Bajdik, Chris C; Brooks-Wilson, Angela A
Publication Date: 2013

Variant appearance in text: rs9862
PubMed Link: 23527119
Variant Present in the following documents:
  • Main text
  • pone.0059157.pdf
View BVdb publication page



Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

Molecular Vision
De Bonis, Patrizia P; Laborante, Antonio A; Pizzicoli, Costantina C; Stallone, Raffaella R; Barbano, Raffaela R; Longo, Costanza C; Mazzilli, Emilio E; Zelante, Leopoldo L; Bisceglia, Luigi L
Publication Date: 2011

Variant appearance in text: rs9862
PubMed Link: 21976959
Variant Present in the following documents:
  • Main text
  • mv-v17-2482.pdf
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Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

European Journal Of Human Genetics : Ejhg
Chiquet, Brett T BT; Hashmi, Syed S SS; Henry, Robin R; Burt, Amber A; Mulliken, John B JB; Stal, Samuel S; Bray, Molly M; Blanton, Susan H SH; Hecht, Jacqueline T JT
Publication Date: 2009-02

Variant appearance in text: rs9862
PubMed Link: 18716610
Variant Present in the following documents:
  • Main text
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Multiple-polymorphism associations of 7 matrix metalloproteinase and tissue inhibitor metalloproteinase genes with myocardial infarction and angiographic coronary artery disease.

American Heart Journal
Horne, Benjamin D BD; Camp, Nicola J NJ; Carlquist, John F JF; Muhlestein, Joseph B JB; Kolek, Matthew J MJ; Nicholas, Zachary P ZP; Anderson, Jeffrey L JL
Publication Date: 2007-10

Variant appearance in text: rs9862
PubMed Link: 17893005
Variant Present in the following documents:
  • Main text
View BVdb publication page