MX1 c.1135G>A ;(p.V379I)

Variant ID: 21-42817930-G-A

NM_002462.3(MX1):c.1135G>A;(p.V379I)

This variant was identified in 68 publications

View GRCh38 version.




Publications:


Expression profiles of east-west highly differentiated genes in Uyghur genomes.

National Science Review
Ning, Zhilin Z; Tan, Xinjiang X; Yuan, Yuan Y; Huang, Ke K; Pan, Yuwen Y; Tian, Lei L; Lu, Yan Y; Wang, Xiaoji X; Qi, Ruicheng R; Lu, Dongsheng D; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S
Publication Date: 2023-04

Variant appearance in text: rs469390
PubMed Link: 37138773
Variant Present in the following documents:
  • Main text
  • nwad077.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: MX1: V379I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: MX1: V379I; rs469390
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Relevance of TMPRSS2, CD163/CD206, and CD33 in clinical severity stratification of COVID-19.

Frontiers In Immunology
Martínez-Diz, Silvia S; Marín-Benesiu, Fernando F; López-Torres, Ginesa G; Santiago, Olivia O; Díaz-Cuéllar, José F JF; Martín-Esteban, Sara S; Cortés-Valverde, Ana I AI; Arenas-Rodríguez, Verónica V; Cuenca-López, Sergio S; Porras-Quesada, Patricia P; Ruiz-Ruiz, Carmen C; Abadía-Molina, Ana C AC; Entrala-Bernal, Carmen C; Martínez-González, Luis J LJ; Álvarez-Cubero, Maria Jesus MJ
Publication Date: 2022

Variant appearance in text: rs469390
PubMed Link: 36969980
Variant Present in the following documents:
  • Main text
  • fimmu-13-1094644.pdf
View BVdb publication page



Host variation in type I interferon signaling genes (MX1), C-C chemokine receptor type 5 gene, and major histocompatibility complex class I alleles in treated HIV+ noncontrollers predict viral reservoir size.

Aids (London, England)
Siegel, David A DA; Thanh, Cassandra C; Wan, Eunice E; Hoh, Rebecca R; Hobbs, Kristen K; Pan, Tony T; Gibson, Erica A EA; Kroetz, Deanna L DL; Martin, Jeffrey J; Hecht, Frederick F; Pilcher, Christopher C; Martin, Maureen M; Carrington, Mary M; Pillai, Satish S; Busch, Michael P MP; Stone, Mars M; Levy, Claire N CN; Huang, Meei-Li ML; Roychoudhury, Pavitra P; Hladik, Florian F; Jerome, Keith R KR; Kiem, Hans-Peter HP; Henrich, Timothy J TJ; Deeks, Steven G SG; Lee, Sulggi A SA
Publication Date: 2023-03-01

Variant appearance in text: rs469390
PubMed Link: 36695358
Variant Present in the following documents:
  • Main text
  • aids-37-477.pdf
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: MX1: V379I; rs469390
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.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: MX1: 1135G>A; Val379Ile; rs469390
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: MX1: V379I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_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: MX1: V379I; rs469390
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



COVID-19: Current Status in Gastrointestinal, Hepatic, and Pancreatic Diseases-A Concise Review.

Tropical Medicine And Infectious Disease
Aquino-Matus, Jorge J; Uribe, Misael M; Chavez-Tapia, Norberto N
Publication Date: 2022-08-16

Variant appearance in text: rs469390
PubMed Link: 36006279
Variant Present in the following documents:
  • tropicalmed-07-00187.pdf
View BVdb publication page



Transmembrane protease serine 2 (TMPRSS2) rs75603675, comorbidity, and sex are the primary predictors of COVID-19 severity.

Life Science Alliance
Villapalos-García, Gonzalo G; Zubiaur, Pablo P; Rivas-Durán, Rebeca R; Campos-Norte, Pilar P; Arévalo-Román, Cristina C; Fernández-Rico, Marta M; García-Fraile Fraile, Lucio L; Fernández-Campos, Paula P; Soria-Chacartegui, Paula P; Fernández de Córdoba-Oñate, Sara S; Delgado-Wicke, Pablo P; Fernández-Ruiz, Elena E; González-Álvaro, Isidoro I; Sanz, Jesús J; Abad-Santos, Francisco F; de Los Santos, Ignacio I
Publication Date: 2022-10

Variant appearance in text: rs469390
PubMed Link: 35636966
Variant Present in the following documents:
  • Main text
  • LSA-2022-01396.pdf
  • LSA-2022-01396_review_history.pdf
View BVdb publication page



Host polymorphisms and COVID-19 infection.

Advances In Clinical Chemistry
Delanghe, Joris R JR; Speeckaert, Marijn M MM
Publication Date: 2022

Variant appearance in text: rs469390
PubMed Link: 35337605
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Role of genetic variants and host polymorphisms on COVID-19: From viral entrance mechanisms to immunological reactions.

Journal Of Medical Virology
Adli, Abolfazl A; Rahimi, Mandana M; Khodaie, Reza R; Hashemzaei, Niloofar N; Hosseini, Sayed M SM
Publication Date: 2022-05

Variant appearance in text: rs469390
PubMed Link: 35076118
Variant Present in the following documents:
  • Main text
  • JMV-94-1846.pdf
View BVdb publication page



Multi-omics approach to COVID-19: a domain-based literature review.

Journal Of Translational Medicine
Montaldo, Chiara C; Messina, Francesco F; Abbate, Isabella I; Antonioli, Manuela M; Bordoni, Veronica V; Aiello, Alessandra A; Ciccosanti, Fabiola F; Colavita, Francesca F; Farroni, Chiara C; Najafi Fard, Saeid S; Giombini, Emanuela E; Goletti, Delia D; Matusali, Giulia G; Rozera, Gabriella G; Rueca, Martina M; Sacchi, Alessandra A; Piacentini, Mauro M; Agrati, Chiara C; Fimia, Gian Maria GM; Capobianchi, Maria Rosaria MR; Lauria, Francesco Nicola FN; Ippolito, Giuseppe G
Publication Date: 2021-12-07

Variant appearance in text: rs469390
PubMed Link: 34876157
Variant Present in the following documents:
  • 12967_2021_3168_MOESM2_ESM.xlsx, 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: MX1: V379I
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Computational Analysis of Missense Variants in the Human Transmembrane Protease Serine 2 (TMPRSS2) and SARS-CoV-2.

Biomed Research International
Saih, Asmae A; Bouqdayr, Meryem M; Baba, Hanâ H; Hamdi, Salsabil S; Moussamih, Samya S; Bennani, Houda H; Saile, Rachid R; Wakrim, Lahcen L; Kettani, Anass A
Publication Date: 2021

Variant appearance in text: rs469390
PubMed Link: 34692848
Variant Present in the following documents:
  • Main text
  • BMRI2021-9982729.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: MX1: V379I; rs469390
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: MX1: V379I; rs469390
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 11
View BVdb publication page



Human genetic basis of coronavirus disease 2019.

Signal Transduction And Targeted Therapy
Deng, Hao H; Yan, Xue X; Yuan, Lamei L
Publication Date: 2021-09-20

Variant appearance in text: rs469390
PubMed Link: 34545062
Variant Present in the following documents:
  • Main text
  • 41392_2021_Article_736.pdf
View BVdb publication page



Host Serine Proteases: A Potential Targeted Therapy for COVID-19 and Influenza.

Frontiers In Molecular Biosciences
Rahbar Saadat, Yalda Y; Hosseiniyan Khatibi, Seyed Mahdi SM; Zununi Vahed, Sepideh S; Ardalan, Mohammadreza M
Publication Date: 2021

Variant appearance in text: rs469390
PubMed Link: 34527703
Variant Present in the following documents:
  • Main text
  • fmolb-08-725528.pdf
View BVdb publication page



Bioinformatics Analysis of Allele Frequencies and Expression Patterns of ACE2, TMPRSS2 and FURIN in Different Populations and Susceptibility to SARS-CoV-2.

Genes
Tarek, Mohammad M; Abdelzaher, Hana H; Kobeissy, Firas F; El-Fawal, Hassan A N HAN; Salama, Mohammed M MM; Abdelnaser, Anwar A
Publication Date: 2021-07-05

Variant appearance in text: rs469390
PubMed Link: 34356057
Variant Present in the following documents:
  • Main text
  • genes-12-01041.pdf
View BVdb publication page



Bioinformatics analysis of epigenetic and SNP-related molecular markers in systemic lupus erythematosus.

American Journal Of Translational Research
Xie, Shuoshan S; Zeng, Qinghua Q; Ouyang, Shaxi S; Liang, Yumei Y; Xiao, Changjuan C
Publication Date: 2021

Variant appearance in text: rs469390
PubMed Link: 34306371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: MX1: 1135G>A; Val379Ile; rs469390
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Human gene polymorphisms and their possible impact on the clinical outcome of SARS-CoV-2 infection.

Archives Of Virology
Hashemi, Seyed Mohammad Ali SMA; Thijssen, Marijn M; Hosseini, Seyed Younes SY; Tabarraei, Alijan A; Pourkarim, Mahmoud Reza MR; Sarvari, Jamal J
Publication Date: 2021-08

Variant appearance in text: rs469390
PubMed Link: 33934196
Variant Present in the following documents:
  • Main text
View BVdb publication page



SARS-CoV-2 Entry Related Viral and Host Genetic Variations: Implications on COVID-19 Severity, Immune Escape, and Infectivity.

International Journal Of Molecular Sciences
Huang, Szu-Wei SW; Wang, Sheng-Fan SF
Publication Date: 2021-03-17

Variant appearance in text: rs469390
PubMed Link: 33802729
Variant Present in the following documents:
  • Main text
  • ijms-22-03060.pdf
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: MX1: V379I; rs469390
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: MX1: 1135G>A; V379I; rs469390
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22

Variant appearance in text: MX1: 1135G>A; Val379Ile
PubMed Link: 33753779
Variant Present in the following documents:
  • 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mutations and polymorphisms in genes involved in the infections by covid 19: a review.

Gene Reports
Kaltoum, Ait Boujmia Oum ABO
Publication Date: 2021-06

Variant appearance in text: rs469390
PubMed Link: 33655087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and epigenetic factors associated with increased severity of Covid-19.

Cell Biology International
Yildirim, Zafer Z; Sahin, Oyku Semahat OS; Yazar, Seyhan S; Bozok Cetintas, Vildan V
Publication Date: 2021-06

Variant appearance in text: rs469390
PubMed Link: 33590936
Variant Present in the following documents:
  • Main text
  • CBIN-9999-0.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: MX1: V379I; rs469390
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
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: MX1: V379I
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Pharmacogenomics of genetic polymorphism within the genes responsible for SARS-CoV-2 susceptibility and the drug-metabolising genes used in treatment.

Reviews In Medical Virology
Al-Eitan, Laith N LN; Alahmad, Saif Z SZ
Publication Date: 2021-07

Variant appearance in text: rs469390
PubMed Link: 33205496
Variant Present in the following documents:
  • Main text
  • RMV-9999-e2194.pdf
View BVdb publication page



Pharmacogenomics of genetic polymorphism within the genes responsible for SARS-CoV-2 susceptibility and the drug-metabolising genes used in treatment.

Reviews In Medical Virology
Al-Eitan, Laith N LN; Alahmad, Saif Z SZ
Publication Date: 2021-07

Variant appearance in text: rs469390
PubMed Link: 33205496
Variant Present in the following documents:
  • Main text
  • RMV-9999-e2194.pdf
View BVdb publication page



Genetic variants that influence SARS-CoV-2 receptor TMPRSS2 expression among population cohorts from multiple continents.

Biochemical And Biophysical Research Communications
Irham, Lalu Muhammad LM; Chou, Wan-Hsuan WH; Calkins, Marcus J MJ; Adikusuma, Wirawan W; Hsieh, Shie-Liang SL; Chang, Wei-Chiao WC
Publication Date: 2020-08-20

Variant appearance in text: rs469390
PubMed Link: 32703421
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: rs469390
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: MX1: V379I
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
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: MX1: V379I
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: MX1: 1135G>A; Val379Ile
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 9
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: MX1: V379I; rs469390
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: MX1: V379I; rs469390
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs469390
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: MX1: V379I; rs469390
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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Ways of improving precise knock-in by genome-editing technologies.

Human Genetics
Smirnikhina, Svetlana A SA; Anuchina, Arina A AA; Lavrov, Alexander V AV
Publication Date: 2019-01

Variant appearance in text: MxA: V379I
PubMed Link: 30390160
Variant Present in the following documents:
  • Main text
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