Publications:

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Integrin Subunit Alpha M, ITGAM Nonsynonymous SNP Is Associated with Knee Osteoarthritis among Thais: A Case-Control Study.

Current Issues In Molecular Biology

Intharanut, Kamphon K; Suttanon, Plaiwan P; Nathalang, Oytip O

Publication Date: 2023-05-09

Variant appearance in text: rs2288904

PubMed Link: 37232734

Variant Present in the following documents:

• cimb-45-00265.pdf

View BVdb publication page

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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: SLC44A2: Q154R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: SLC44A2: Q154R

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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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: SLC44A2: 461A>G; Gln154Arg

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.

Embo Molecular Medicine

Koehl, Bérengère B; Vrignaud, Cédric C; Mikdar, Mahmoud M; Nair, Thankam S TS; Yang, Lucy L; Landry, Seyve S; Laiguillon, Guy G; Giroux-Lathuile, Claudine C; Anselme-Martin, Sophie S; El Kenz, Hanane H; Hermine, Olivier O; Mohandas, Narla N; Cartron, Jean Pierre JP; Colin, Yves Y; Detante, Olivier O; Marlu, Raphaël R; Le Van Kim, Caroline C; Carey, Thomas E TE; Azouzi, Slim S; Peyrard, Thierry T

Publication Date: 2023-01-25

Variant appearance in text: rs2288904

PubMed Link: 36695047

Variant Present in the following documents:

• EMMM-15-e16320.pdf

View BVdb publication page

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Platelet-Neutrophil Crosstalk in Thrombosis.

International Journal Of Molecular Sciences

Mereweather, Laura J LJ; Constantinescu-Bercu, Adela A; Crawley, James T B JTB; Salles-Crawley, Isabelle I II

Publication Date: 2023-01-09

Variant appearance in text: rs2288904

PubMed Link: 36674781

Variant Present in the following documents:

• Main text
• ijms-24-01266.pdf

View BVdb publication page

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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: SLC44A2: Q154R; rs2288904

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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

Ejhaem

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

Publication Date: 2022-11

Variant appearance in text: SLC44A2: Q154R; rs2288904

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: SLC44A2: 461A>G; Gln154Arg; rs2288904

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SLC44A2: Q154R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: SLC44A2: Q154R; rs2288904

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

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Recurrent Pulmonary Embolism Associated with a New Mutation Site of SLC44A2: A Case Report.

Anatolian Journal Of Cardiology

Yang, Feng F; Chen, Quan-Fang QF

Publication Date: 2022-07

Variant appearance in text: rs2288904

PubMed Link: 35791714

Variant Present in the following documents:

• Main text
• ajc-26-7-577.pdf

View BVdb publication page

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SLC44A2 Frequency, a New TaqMan Real-Time Polymerase Chain Reaction Method for HNA-3A/3B Genotyping, and a New Application of Droplet Digital PCR.

Frontiers In Genetics

Wang, Yufeng Y; Chen, Xihui X; Chen, Qi Q; Chen, Tangdong T; Chen, Kun K; Wu, Yuanming Y; Wang, Li L

Publication Date: 2022

Variant appearance in text: rs2288904

PubMed Link: 35646052

Variant Present in the following documents:

• Main text
• fgene-13-794285.pdf

View BVdb publication page

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Identifying causal genes for stroke via integrating the proteome and transcriptome from brain and blood.

Journal Of Translational Medicine

Wu, Bang-Sheng BS; Chen, Shu-Fen SF; Huang, Shu-Yi SY; Ou, Ya-Nan YN; Deng, Yue-Ting YT; Chen, Shi-Dong SD; Dong, Qiang Q; Yu, Jin-Tai JT

Publication Date: 2022-04-21

Variant appearance in text: rs2288904

PubMed Link: 35449099

Variant Present in the following documents:

• Main text
• 12967_2022_Article_3377.pdf

View BVdb publication page

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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: SLC44A2: Q154R

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: SLC44A2: Q154R

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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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: SLC44A2: Q154R; rs2288904

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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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: SLC44A2: Q154R; rs2288904

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SLC44A2: 461A>G; Q154R; rs2288904

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: SLC44A2: Q154R; rs2288904

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: SLC44A2: 461A>G; Q154R; rs2288904

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

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Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.

European Heart Journal

Hartiala, Jaana A JA; Han, Yi Y; Jia, Qiong Q; Hilser, James R JR; Huang, Pin P; Gukasyan, Janet J; Schwartzman, William S WS; Cai, Zhiheng Z; Biswas, Subarna S; Trégouët, David-Alexandre DA; Smith, Nicholas L NL; , ; , ; , ; Seldin, Marcus M; Pan, Calvin C; Mehrabian, Margarete M; Lusis, Aldons J AJ; Bazeley, Peter P; Sun, Yan V YV; Liu, Chang C; Quyyumi, Arshed A AA; Scholz, Markus M; Thiery, Joachim J; Delgado, Graciela E GE; Kleber, Marcus E ME; März, Winfried W; Howe, Laurence J LJ; Asselbergs, Folkert W FW; van Vugt, Marion M; Vlachojannis, Georgios J GJ; Patel, Riyaz S RS; Lyytikäinen, Leo-Pekka LP; Kähönen, Mika M; Lehtimäki, Terho T; Nieminen, Tuomo V M TVM; Kuukasjärvi, Pekka P; Laurikka, Jari O JO; Chang, Xuling X; Heng, Chew-Kiat CK; Jiang, Rong R; Kraus, William E WE; Hauser, Elizabeth R ER; Ferguson, Jane F JF; Reilly, Muredach P MP; Ito, Kaoru K; Koyama, Satoshi S; Kamatani, Yoichiro Y; Komuro, Issei I; , ; Stolze, Lindsey K LK; Romanoski, Casey E CE; Khan, Mohammad Daud MD; Turner, Adam W AW; Miller, Clint L CL; Aherrahrou, Redouane R; Civelek, Mete M; Ma, Lijiang L; Björkegren, Johan L M JLM; Kumar, S Ram SR; Tang, W H Wilson WHW; Hazen, Stanley L SL; Allayee, Hooman H

Publication Date: 2021-03-01

Variant appearance in text: rs2288904

PubMed Link: 33532862

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between human leukocyte antigens (HLAs) and human neutrophil antigens (HNAs) and autoimmune neutropenia of infancy in Danish patients.

Pediatric Allergy And Immunology : Official Publication Of The European Society Of Pediatric Allergy And Immunology

Nielsen, Kaspar René KR; Bojsen, Signe Rolskov SR; Masmas, Tania Nicole TN; Fjordside, Anne-Louise AL; Baech, John J; Haunstrup, Thure Mors TM; Steffensen, Rudi R

Publication Date: 2021-05

Variant appearance in text: rs2288904

PubMed Link: 33421202

Variant Present in the following documents:

• Main text
• PAI-32-756.pdf

View BVdb publication page

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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: SLC44A2: 461A>G; Q154R; rs2288904

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

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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: SLC44A2: Q154R

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Genetic association study of fatal pulmonary embolism.

International Journal Of Legal Medicine

Meißner, Lisa L; Schürmann, Peter P; Dörk, Thilo T; Hagemeier, Lars L; Klintschar, Michael M

Publication Date: 2021-01

Variant appearance in text: rs2288904

PubMed Link: 33128086

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene Variants Associated With Venous Thrombosis: A Replication Study in a Brazilian Multicentre Study.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Romano, Anna Virgínia Calazans AVC; Barnabé, Aline A; Gadelha, Telma Barbosa TB; Guerra, João Carlos de Campos JCC; Secolin, Rodrigo R; Orsi, Fernanda Loureiro de Andrade FLA; Campanate, Gizele de Castro Sousa GCS; Wolosker, Nelson N; Annichino-Bizzacchi, Joyce Maria JM

Publication Date: 2020

Variant appearance in text: rs2288904

PubMed Link: 33119405

Variant Present in the following documents:

• Main text
• 10.1177_1076029620962225.pdf

View BVdb publication page

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The Effect of Common Variants in SLC44A2 on the Contribution to the Risk of Deep Cein Thrombosis after Orthopedic Surgery.

Journal Of Atherosclerosis And Thrombosis

Zhi, Liqiang L; Feng, Weilou W; Liang, Jingqi J; Zhong, Qing Q; Ren, Liaoyuan L; Ma, Jianbing J; Yao, Shuxin S; ,

Publication Date: 2021-03-01

Variant appearance in text: rs2288904

PubMed Link: 32581188

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SLC44A2: Q154R; rs2288904

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells.

Life Science Alliance

Gresle, Melissa M MM; Jordan, Margaret A MA; Stankovich, Jim J; Spelman, Tim T; Johnson, Laura J LJ; Laverick, Louise L; Hamlett, Alison A; Smith, Letitia D LD; Jokubaitis, Vilija G VG; Baker, Josephine J; Haartsen, Jodi J; Taylor, Bruce B; Charlesworth, Jac J; Bahlo, Melanie M; Speed, Terence P TP; Brown, Matthew A MA; Field, Judith J; Baxter, Alan G AG; Butzkueven, Helmut H

Publication Date: 2020-07

Variant appearance in text: rs2288904

PubMed Link: 32518073

Variant Present in the following documents:

• Main text
• LSA-2020-00650.pdf

View BVdb publication page

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Activated αIIbβ3 on platelets mediates flow-dependent NETosis via SLC44A2.

Elife

Constantinescu-Bercu, Adela A; Grassi, Luigi L; Frontini, Mattia M; Salles-Crawley, Isabelle I II; Woollard, Kevin K; Crawley, James Tb JT

Publication Date: 2020-04-21

Variant appearance in text: rs2288904

PubMed Link: 32314961

Variant Present in the following documents:

• Main text

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: rs2288904

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: SLC44A2: Q154R

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Dataset of GWAS-identified variants underlying venous thromboembolism susceptibility and linkage to cancer aggressiveness.

Data In Brief

Tavares, Valéria V; Pinto, Ricardo R; Assis, Joana J; Pereira, Deolinda D; Medeiros, Rui R

Publication Date: 2020-06

Variant appearance in text: rs2288904

PubMed Link: 32258274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.

Frontiers In Neurology

Oh, Eun Hye EH; Shin, Jin-Hong JH; Kim, Hyang-Sook HS; Cho, Jae Wook JW; Choi, Seo Young SY; Choi, Kwang-Dong KD; Rhee, Je-Keun JK; Lee, Seowhang S; Lee, Changwook C; Choi, Jae-Hwan JH

Publication Date: 2019

Variant appearance in text: rs2288904

PubMed Link: 32038468

Variant Present in the following documents:

• Main text
• fneur-10-01424.pdf

View BVdb publication page

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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: SLC44A2: Q154R

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: SLC44A2: 461A>G; Gln154Arg

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 4

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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: SLC44A2: Q154R; rs2288904

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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