Publications:

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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: DDX20: I636T

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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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: DDX20: I636T; rs197412

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: DDX20: I636T

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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Pan-Cancer Study on Variants of Canonical miRNA Biogenesis Pathway Components: A Pooled Analysis.

Cancers

Elshazli, Rami M RM; Toraih, Eman A EA; Hussein, Mohammad H MH; Ruiz, Emmanuelle M EM; Kandil, Emad E; Fawzy, Manal S MS

Publication Date: 2023-01-04

Variant appearance in text: rs197412

PubMed Link: 36672288

Variant Present in the following documents:

• Main text
• cancers-15-00338.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: DDX20: I636T; rs197412

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Relationship between the Occurrence of Genetic Variants of Single Nucleotide Polymorphism in microRNA Processing Genes and the Risk of Developing Multiple Sclerosis.

Biomedicines

Basak, Justyna J; Piotrzkowska, Danuta D; Majsterek, Ireneusz I; Kucharska, Ewa E

Publication Date: 2022-12-03

Variant appearance in text: rs197412

PubMed Link: 36551880

Variant Present in the following documents:

• Main text
• biomedicines-10-03124.pdf

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: rs197412

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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GEMIN6 Overexpression Correlates with the Low Immune Cell Infiltration and Poor Prognosis in Lung Adenocarcinoma.

Journal Of Oncology

Peng, Yunsong Y; Wang, Zeng Z; Cai, Jianyong J; Dong, Xiaoqiao X; Du, Quan Q

Publication Date: 2022

Variant appearance in text: rs197412

PubMed Link: 36284636

Variant Present in the following documents:

• JO2022-1930604.pdf

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2022-10-14

Variant appearance in text: DDX20: I636T

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_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_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: DDX20: I636T; rs197412

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

View BVdb publication page

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Genetic Variation in DEAD-Box Helicase 20 as a Putative Marker of Recurrence in Propensity-Matched Colon Cancer Patients.

Genes

Hobani, Yahya H YH; Almars, Amany I AI; Alelwani, Walla W; Toraih, Eman A EA; Nemr, Nader A NA; Shaalan, Aly A M AAM; Fawzy, Manal S MS; Attallah, Samy M SM

Publication Date: 2022-08-07

Variant appearance in text: DDX20: 1907T>C; rs197412

PubMed Link: 36011315

Variant Present in the following documents:

• Main text
• genes-13-01404.pdf

View BVdb publication page

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MicroRNA Processing Pathway-Based Polygenic Score for Clear Cell Renal Cell Carcinoma in the Volga-Ural Region Populations of Eurasian Continent.

Genes

Ivanova, Elizaveta E; Gilyazova, Irina I; Pavlov, Valentin V; Izmailov, Adel A; Gimalova, Galiya G; Karunas, Alexandra A; Prokopenko, Inga I; Khusnutdinova, Elza E

Publication Date: 2022-07-20

Variant appearance in text: rs197412

PubMed Link: 35886064

Variant Present in the following documents:

• Main text
• genes-13-01281.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: DDX20: I636T; rs197412

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: DDX20: I636T

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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

Frontiers In Immunology

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

Publication Date: 2021

Variant appearance in text: DDX20: I636T

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, 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: DDX20: I636T

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

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: DDX20: I636T

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

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: DDX20: 1907T>C; I636T; rs197412

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: DDX20: 1907T>C; Ile636Thr; rs197412

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: DDX20: I636T; rs197412

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: DDX20: 1907T>C; I636T; rs197412

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 3

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: rs197412

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: DDX20: 1907T>C; Ile636Thr; rs197412

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine for gastrointestinal cancer: Recent progress and future perspective.

World Journal Of Gastrointestinal Oncology

Matsuoka, Tasuku T; Yashiro, Masakazu M

Publication Date: 2020-01-15

Variant appearance in text: rs197412

PubMed Link: 31966910

Variant Present in the following documents:

• Main text
• WJGO-12-1.pdf

View BVdb publication page

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Systematic Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer.

Biomarkers In Cancer

Lipunova, Nadezda N; Wesselius, Anke A; Cheng, Kar K KK; van Schooten, Frederik J FJ; Cazier, Jean-Baptiste JB; Bryan, Richard T RT; Zeegers, Maurice P MP

Publication Date: 2019

Variant appearance in text: rs197412

PubMed Link: 31908559

Variant Present in the following documents:

• Supplementary_Tables_1_12_Sep24_xyz268777d1d25d8.pdf

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: DDX20: Ile636Thr

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 4

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: DDX20: I636T; rs197412

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: DDX20: I636T; rs197412

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Single Nucleotide Polymorphisms in MIR143 Contribute to Protection Against Non-Hodgkin Lymphoma (NHL) in Caucasian Populations.

Genes

Bradshaw, Gabrielle G; Haupt, Larisa M LM; Aquino, Eunise M EM; Lea, Rodney A RA; Sutherland, Heidi G HG; Griffiths, Lyn R LR

Publication Date: 2019-02-27

Variant appearance in text: rs197412

PubMed Link: 30818878

Variant Present in the following documents:

• Main text
• genes-10-00185.pdf

View BVdb publication page

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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: rs197412

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: DDX20: 1907T>C; I636T; rs197412

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

View BVdb publication page

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Anomalies in MiRNAs Machinery Gene, GEMIN-4 Variants Suggest Renal Cell Carcinoma Risk: A Small Experimental Study from North India.

Indian Journal Of Clinical Biochemistry : Ijcb

Verma, Archana A; Singh, Vibha V; Jaiswal, Praveen Kumar PK; Mittal, Rama D RD

Publication Date: 2019-01

Variant appearance in text: rs197412

PubMed Link: 30728672

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: DDX20: I636T; rs197412

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: DDX20: I636T; rs197412

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Involving the microRNA Targetome in Esophageal-Cancer Development and Behavior.

Cancers

Dias, Francisca F; Morais, Mariana M; Teixeira, Ana Luísa AL; Medeiros, Rui R

Publication Date: 2018-10-12

Variant appearance in text: rs197412

PubMed Link: 30322005

Variant Present in the following documents:

• Main text
• cancers-10-00381.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: DDX20: 1907T>C; Ile636Thr; rs197412

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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MicroRNA-Related Polymorphisms in Infectious Diseases-Tiny Changes With a Huge Impact on Viral Infections and Potential Clinical Applications.

Frontiers In Immunology

Ellwanger, Joel Henrique JH; Zambra, Francis Maria Báo FMB; Guimarães, Rafael Lima RL; Chies, José Artur Bogo JAB

Publication Date: 2018

Variant appearance in text: rs197412

PubMed Link: 29963045

Variant Present in the following documents:

• Main text
• fimmu-09-01316.pdf

View BVdb publication page

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Association of miRNA biosynthesis genes DROSHA and DGCR8 polymorphisms with cancer susceptibility: a systematic review and meta-analysis.

Bioscience Reports

Wen, Jing J; Lv, Zhi Z; Ding, Hanxi H; Fang, Xinxin X; Sun, Mingjun M

Publication Date: 2018-06-29

Variant appearance in text: rs197412

PubMed Link: 29654164

Variant Present in the following documents:

• Main text
• bsr-38-bsr20180072.pdf

View BVdb publication page

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Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: DDX20: I636T; rs197412

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

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Genetic polymorphisms of microRNA machinery genes predict overall survival of esophageal squamous carcinoma.

Journal Of Clinical Laboratory Analysis

Wang, Cuiju C; Dong, Hailing H; Fan, Haiyan H; Wu, Jianhua J; Wang, Guiying G

Publication Date: 2018-01

Variant appearance in text: rs197412

PubMed Link: 29226993

Variant Present in the following documents:

• Main text

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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: DDX20: I636T; rs197412

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

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Validation of microRNA pathway polymorphisms in esophageal adenocarcinoma survival.

Cancer Medicine

Faluyi, Olusola O OO; Eng, Lawson L; Qiu, Xin X; Che, Jiahua J; Zhang, Qihuang Q; Cheng, Dangxiao D; Ying, Nanjiao N; Tse, Alvina A; Kuang, Qin Q; Dodbiba, Lorin L; Renouf, Daniel J DJ; Marsh, Sharon S; Savas, Sevtap S; Mackay, Helen J HJ; Knox, Jennifer J JJ; Darling, Gail E GE; Wong, Rebecca K S RK; Xu, Wei W; Azad, Abul Kalam AK; Liu, Geoffrey G

Publication Date: 2017-02

Variant appearance in text: rs197412

PubMed Link: 28074552

Variant Present in the following documents:

• Main text

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Dysregulated MicroRNA Expression Profiles and Potential Cellular, Circulating and Polymorphic Biomarkers in Non-Hodgkin Lymphoma.

Genes

Bradshaw, Gabrielle G; Sutherland, Heidi G HG; Haupt, Larisa M LM; Griffiths, Lyn R LR

Publication Date: 2016-12-17

Variant appearance in text: rs197412

PubMed Link: 27999330

Variant Present in the following documents:

• Main text
• genes-07-00130.pdf

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MiRNAs and miRNA Polymorphisms Modify Drug Response.

International Journal Of Environmental Research And Public Health

Li, Mu-Peng MP; Hu, Yao-Dong YD; Hu, Xiao-Lei XL; Zhang, Yan-Jiao YJ; Yang, Yong-Long YL; Jiang, Chun C; Tang, Jie J; Chen, Xiao-Ping XP

Publication Date: 2016-11-08

Variant appearance in text: rs197412

PubMed Link: 27834829

Variant Present in the following documents:

• Main text

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MicroRNA-related polymorphisms and non-Hodgkin lymphoma susceptibility in the Multicenter AIDS Cohort Study.

Cancer Epidemiology

Peckham-Gregory, Erin C EC; Thapa, Dharma R DR; Martinson, Jeremy J; Duggal, Priya P; Penugonda, Sudhir S; Bream, Jay H JH; Chang, Po-Yin PY; Dandekar, Sugandha S; Chang, Shen-Chih SC; Detels, Roger R; Martínez-Maza, Otoniel O; Zhang, Zuo-Feng ZF; Hussain, Shehnaz K SK

Publication Date: 2016-12

Variant appearance in text: rs197412

PubMed Link: 27701053

Variant Present in the following documents:

• Main text

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Single nucleotide polymorphisms as markers of genetic susceptibility for oral potentially malignant disorders risk: Review of evidence to date.

Oral Oncology

Shridhar, Krithiga K; Aggarwal, Aastha A; Walia, Gagandeep Kaur GK; Gulati, Smriti S; Geetha, A V AV; Prabhakaran, D D; Dhillon, Preet K PK; Rajaraman, Preetha P

Publication Date: 2016-10

Variant appearance in text: rs197412

PubMed Link: 27688118

Variant Present in the following documents:

• Main text
• main.pdf

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: DDX20: I636T; rs197412

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

Bmc Medical Genomics

Mullany, Lila E LE; Herrick, Jennifer S JS; Wolff, Roger K RK; Buas, Matthew F MF; Slattery, Martha L ML

Publication Date: 2016-04-23

Variant appearance in text: rs197412

PubMed Link: 27107574

Variant Present in the following documents:

• Main text
• 12920_2016_Article_181.pdf

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Genetic variants in the MicroRNA biosynthetic pathway Gemin3 and Gemin4 are associated with a risk of cancer: a meta-analysis.

Peerj

Zhu, Wenbo W; Zhao, Jun J; He, Jieyu J; Qi, Daxun D; Wang, Lina L; Ma, Xu X; Liu, Pei P

Publication Date: 2016

Variant appearance in text: rs197412

PubMed Link: 27019773

Variant Present in the following documents:

• Main text

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Predictive role of microRNA-related genetic polymorphisms in the pathological complete response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer patients.

Oncotarget

Dreussi, Eva E; Pucciarelli, Salvatore S; De Paoli, Antonino A; Polesel, Jerry J; Canzonieri, Vincenzo V; Agostini, Marco M; Friso, Maria Luisa ML; Belluco, Claudio C; Buonadonna, Angela A; Lonardi, Sara S; Zanusso, Chiara C; De Mattia, Elena E; Toffoli, Giuseppe G; Cecchin, Erika E

Publication Date: 2016-04-12

Variant appearance in text: rs197412

PubMed Link: 26934318

Variant Present in the following documents:

• Main text
• oncotarget-07-19781.pdf

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