MMP9 c.1721G>C ;(p.R574P)

Variant ID: 20-44642406-G-C

NM_004994.2(MMP9):c.1721G>C;(p.R574P)

This variant was identified in 108 publications

View GRCh38 version.




Publications:


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: rs2250889
PubMed Link: 37032759
Variant Present in the following documents:
  • Main text
  • tau-12-03-375.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: MMP9: R574P
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: MMP9: 1721G>C; Arg574Pro
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: MMP9: R574P; rs2250889
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
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: MMP9: R574P; rs2250889
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The Modifying Effect of Obesity on the Association of Matrix Metalloproteinase Gene Polymorphisms with Breast Cancer Risk.

Biomedicines
Pavlova, Nadezhda N; Demin, Sergey S; Churnosov, Mikhail M; Reshetnikov, Evgeny E; Aristova, Inna I; Churnosova, Maria M; Ponomarenko, Irina I
Publication Date: 2022-10-18

Variant appearance in text: rs2250889
PubMed Link: 36289879
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02617.pdf
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: MMP9: 1721G>C; Arg574Pro; rs2250889
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: MMP9: 1721G>C; R574P; rs2250889
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM1_ESM.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: MMP9: R574P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



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: rs2250889
PubMed Link: 36138580
Variant Present in the following documents:
  • Main text
  • children-09-01271.pdf
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: MMP9: R574P; rs2250889
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



Intracerebral Hemorrhage Genetics.

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2022-07-15

Variant appearance in text: rs2250889
PubMed Link: 35886033
Variant Present in the following documents:
  • Main text
  • genes-13-01250.pdf
View BVdb publication page



Genetics of Spontaneous Intracerebral Hemorrhage: Risk and Outcome.

Frontiers In Neuroscience
Guo, Hongxiu H; You, Mingfeng M; Wu, Jiehong J; Chen, Anqi A; Wan, Yan Y; Gu, Xinmei X; Tan, Senwei S; Xu, Yating Y; He, Quanwei Q; Hu, Bo B
Publication Date: 2022

Variant appearance in text: rs2250889
PubMed Link: 35478846
Variant Present in the following documents:
  • Main text
  • fnins-16-874962.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: MMP9: R574P
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, 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: 2022-01-01

Variant appearance in text: MMP9: R574P; rs2250889
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: MMP9: R574P; rs2250889
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



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: MMP9: R574P
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Acute Inflammation in Cerebrovascular Disease: A Critical Reappraisal with Focus on Human Studies.

Life (Basel, Switzerland)
Dias, Rafael Azevedo RA; Dias, Leonor L; Azevedo, Elsa E; Castro, Pedro P
Publication Date: 2021-10-17

Variant appearance in text: rs2250889
PubMed Link: 34685473
Variant Present in the following documents:
  • Main text
  • life-11-01103.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: MMP9: R574P; rs2250889
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: MMP9: R574P; rs2250889
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Matrix Metalloproteinases as Biomarkers and Treatment Targets in Mesothelioma: A Systematic Review.

Biomolecules
Štrbac, Danijela D; Dolžan, Vita V
Publication Date: 2021-08-25

Variant appearance in text: rs2250889
PubMed Link: 34572485
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01272.pdf
View BVdb publication page



Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia.

Plos One
Dvornyk, Volodymyr V; Ponomarenko, Irina I; Minyaylo, Oksana O; Reshetnikov, Evgeny E; Churnosov, Mikhail M
Publication Date: 2021

Variant appearance in text: MMP9: Arg574Pro; rs2250889
PubMed Link: 34492072
Variant Present in the following documents:
  • Main text
  • pone.0257060.pdf
View BVdb publication page



Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia.

Scientific Reports
Minyaylo, Oksana O; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Publication Date: 2021-06-29

Variant appearance in text: rs2250889
PubMed Link: 34188075
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92527.pdf
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: MMP9: 1721G>C; R574P; rs2250889
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications
Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX
Publication Date: 2021-05-24

Variant appearance in text: MMP9: 1721G>C; Arg574Pro; rs2250889
PubMed Link: 34031426
Variant Present in the following documents:
  • 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse.

International Urogynecology Journal
Allen-Brady, Kristina K; Chua, John W F JWF; Cuffolo, Romana R; Koch, Marianne M; Sorrentino, Felice F; Cartwright, Rufus R
Publication Date: 2021-04-24

Variant appearance in text: rs2250889
PubMed Link: 33893823
Variant Present in the following documents:
  • Main text
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: MMP9: Arg574Pro; rs2250889
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: MMP9: 1721G>C; R574P; rs2250889
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



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: rs2250889
PubMed Link: 33727852
Variant Present in the following documents:
  • Main text
  • tacg-14-89.pdf
View BVdb publication page



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: rs2250889
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: MMP9: R574P
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Association between matrix metalloproteinase-9 gene polymorphism and breast cancer in Brazilian women.

Clinics (Sao Paulo, Brazil)
Oliveira, Victor Alves de VA; Chagas, Diego Cipriano DC; Amorim, Jefferson Rodrigues JR; Pereira, Renato de Oliveira RO; Nogueira, Thais Alves TA; Borges, Victória Maria Luz VML; Campos-Verde, Larysse Maira LM; Martins, Luana Mota LM; Rodrigues, Gilmara Peres GP; Nery Júnior, Elmo de Jesus EJ; Sampaio, Fabiane Araújo FA; Lopes-Costa, Pedro Vitor PV; Sousa, João Marcelo de Castro E JMCE; Silva, Vladmir Costa VC; Silva, Felipe Cavalcanti Carneiro da FCCD; Silva, Benedito Borges da BBD
Publication Date: 2020

Variant appearance in text: rs2250889
PubMed Link: 33146350
Variant Present in the following documents:
  • Main text
  • cln-75-1762.pdf
View BVdb publication page



Novel Data about Association of the Functionally Significant Polymorphisms of the MMP9 Gene with Exfoliation Glaucoma in the Caucasian Population of Central Russia.

Ophthalmic Research
Starikova, Dina D; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Publication Date: 2021

Variant appearance in text: MMP9: Arg574Pro; rs2250889
PubMed Link: 33099542
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer.

Data In Brief
Minyaylo, Oksana O; Starikova, Dina D; Moskalenko, Maria M; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Publication Date: 2020-08

Variant appearance in text: rs2250889
PubMed Link: 32695863
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2250889
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: MMP9: R574P
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 1721G>C; R574P; rs2250889
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Interactions among variants in P53 apoptotic pathway genes are associated with neurologic deterioration and functional outcome after acute ischemic stroke.

Brain And Behavior
Yi, Xingyang X; Zhou, Qiang Q; Sui, Guo G; Ren, Gaoping G; Tan, Lili L; Li, Jie J; Lin, Jing J; Bao, Shaozhi S
Publication Date: 2021-05

Variant appearance in text: rs2250889
PubMed Link: 31909567
Variant Present in the following documents:
  • Main text
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: MMP9: R574P
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: rs2250889
PubMed Link: 31713905
Variant Present in the following documents:
  • Main text
  • JCLA-34-e23105.pdf
View BVdb publication page



Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions.

Journal Of The Neurological Sciences
Wahab, Kolawole Wasiu KW; Tiwari, Hemant K HK; Ovbiagele, Bruce B; Sarfo, Fred F; Akinyemi, Rufus R; Traylor, Matthew M; Rotimi, Charles C; Markus, Hugh Stephen HS; Owolabi, Mayowa M
Publication Date: 2019-12-15

Variant appearance in text: rs2250889
PubMed Link: 31669726
Variant Present in the following documents:
  • Main text
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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: MMP9: 1721G>C; Arg574Pro; rs2250889
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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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: R574P; rs2250889
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
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