Publications:

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KRAS Hijacks the MicroRNA Regulatory Pathway in Cancer.

Cancer Research

Bortoletto, Angelina S AS; Parchem, Ronald J RJ

Publication Date: 2023-03-22

Variant appearance in text: rs2257082

PubMed Link: 36946612

Variant Present in the following documents:

• Main text
• 1563.pdf

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: XPO5: 3303C>T; Tyr1101=

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.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: rs2257082

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: XPO5: Y1101Y

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Cost-effective methylome sequencing of cell-free DNA for accurately detecting and locating cancer.

Nature Communications

Stackpole, Mary L ML; Zeng, Weihua W; Li, Shuo S; Liu, Chun-Chi CC; Zhou, Yonggang Y; He, Shanshan S; Yeh, Angela A; Wang, Ziye Z; Sun, Fengzhu F; Li, Qingjiao Q; Yuan, Zuyang Z; Yildirim, Asli A; Chen, Pin-Jung PJ; Winograd, Paul P; Tran, Benjamin B; Lee, Yi-Te YT; Li, Paul Shize PS; Noor, Zorawar Z; Yokomizo, Megumi M; Ahuja, Preeti P; Zhu, Yazhen Y; Tseng, Hsian-Rong HR; Tomlinson, James S JS; Garon, Edward E; French, Samuel S; Magyar, Clara E CE; Dry, Sarah S; Lajonchere, Clara C; Geschwind, Daniel D; Choi, Gina G; Saab, Sammy S; Alber, Frank F; Wong, Wing Hung WH; Dubinett, Steven M SM; Aberle, Denise R DR; Agopian, Vatche V; Han, Steven-Huy B SB; Ni, Xiaohui X; Li, Wenyuan W; Zhou, Xianghong Jasmine XJ

Publication Date: 2022-09-29

Variant appearance in text: rs2257082

PubMed Link: 36175411

Variant Present in the following documents:

• 41467_2022_32995_MOESM10_ESM.xlsx, sheet 1

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: rs2257082

PubMed Link: 35886064

Variant Present in the following documents:

• Main text
• genes-13-01281.pdf

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: XPO5: Y1101Y

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: XPO5: 3303C>T; Y1101Y; rs2257082

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: XPO5: Tyr1101Tyr; rs2257082

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Frequency of the rs 14035 polymorphism of RAN gen in recurrent pregnancy loss: A case-control study.

International Journal Of Reproductive Biomedicine

Mortazavifar, Zahrasadat Z; Ashrafzadeh, Hamidreza H; Morteza Seifati, Seyed S; Ghasemi, Nasrin N

Publication Date: 2020-05

Variant appearance in text: rs2257082

PubMed Link: 32637864

Variant Present in the following documents:

• Main text
• ijrb-18-359.pdf

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: XPO5: Y1101Y; rs2257082

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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: XPO5: 3303C>T; rs2257082

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population.

Biochemistry Research International

Wang, Ning N; Wang, Boshen B; Guo, Jiadi J; Zhang, Suhao S; Han, Lei L; Zhang, Juan J; Zhu, Baoli B

Publication Date: 2020

Variant appearance in text: rs2257082

PubMed Link: 32148964

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of microRNA biosynthesis genes XPO5 and RAN polymorphisms with cancer susceptibility: Bayesian hierarchical meta-analysis.

Journal Of Cancer

Shao, Yi Y; Shen, Yi Y; Zhao, Lei L; Guo, Xudong X; Niu, Chen C; Liu, Fen F

Publication Date: 2020

Variant appearance in text: rs2257082

PubMed Link: 32127945

Variant Present in the following documents:

• Main text
• jcav11p2181.pdf

View BVdb publication page

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The effects of DICER1 and DROSHA polymorphisms on susceptibility to recurrent spontaneous abortion.

Journal Of Clinical Laboratory Analysis

Ghasemi, Marzieh M; Rezaei, Mahnaz M; Yazdi, Atefeh A; Keikha, Narjes N; Maruei-Milan, Rostam R; Asadi-Tarani, Mina M; Salimi, Saeedeh S

Publication Date: 2020-03

Variant appearance in text: rs2257082

PubMed Link: 31659796

Variant Present in the following documents:

• Main text
• JCLA-34-e23079.pdf

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: XPO5: Y1101Y; rs2257082

PubMed Link: 31597922

Variant Present in the following documents:

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

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: rs2257082

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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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: XPO5: Y1101Y; rs2257082

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2257082

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Role of microRNAs in premature ovarian insufficiency.

Reproductive Biology And Endocrinology : Rb&E

Guo, Ying Y; Sun, Junyan J; Lai, Dongmei D

Publication Date: 2017-05-12

Variant appearance in text: rs2257082

PubMed Link: 28499456

Variant Present in the following documents:

• Main text
• 12958_2017_Article_256.pdf

View BVdb publication page

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Association between Polymorphism of Exportin-5 and Susceptibility to Lead Poisoning in a Chinese Population.

International Journal Of Environmental Research And Public Health

Zhang, Hengdong H; Xu, Ming M; Zhao, Qiuni Q; Sun, Kai K; Gong, Wei W; Zhang, Qiaoyun Q; Zhu, Baoli B; An, Yan Y

Publication Date: 2016-12-31

Variant appearance in text: rs2257082

PubMed Link: 28042866

Variant Present in the following documents:

• Main text
• ijerph-14-00036.pdf

View BVdb publication page

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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: rs2257082

PubMed Link: 27107574

Variant Present in the following documents:

• Main text
• 12920_2016_Article_181.pdf

View BVdb publication page

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

Stem Cell Reports

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

Publication Date: 2015-12-08

Variant appearance in text: XPO5: Y1101Y; rs2257082

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: XPO5: Y1101Y; rs2257082

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: XPO5: Y1101Y; rs2257082

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetics of primary ovarian insufficiency: a review.

Journal Of Assisted Reproduction And Genetics

Fortuño, Cristina C; Labarta, Elena E

Publication Date: 2014-12

Variant appearance in text: rs2257082

PubMed Link: 25227694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in microRNA machinery genes are associated [corrected] with idiopathic recurrent pregnancy loss risk.

Plos One

Jung, Yong Wook YW; Jeon, Young Joo YJ; Rah, HyungChul H; Kim, Ji Hyang JH; Shin, Ji Eun JE; Choi, Dong Hee DH; Cha, Sun Hee SH; Kim, Nam Keun NK

Publication Date: 2014

Variant appearance in text: rs2257082

PubMed Link: 24769857

Variant Present in the following documents:

• Main text
• pone.0095803.pdf

View BVdb publication page

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

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: XPO5: Y1101Y; rs2257082

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Genetic variations in micro-RNA biogenesis genes and clinical outcomes in non-muscle-invasive bladder cancer.

Carcinogenesis

Ke, Hung-Lung HL; Chen, Meng M; Ye, Yuanqing Y; Hildebrandt, Michelle A T MA; Wu, Wen-Jeng WJ; Wei, Hua H; Huang, Maosheng M; Chang, David W DW; Dinney, Colin P CP; Wu, Xifeng X

Publication Date: 2013-05

Variant appearance in text: rs2257082

PubMed Link: 23322153

Variant Present in the following documents:

• Main text

View BVdb publication page

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MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Permuth-Wey, Jennifer J; Chen, Zhihua Z; Tsai, Ya-Yu YY; Lin, Hui-Yi HY; Chen, Y Ann YA; Barnholtz-Sloan, Jill J; Birrer, Michael J MJ; Chanock, Stephen J SJ; Cramer, Daniel W DW; Cunningham, Julie M JM; Fenstermacher, David D; Fridley, Brooke L BL; Garcia-Closas, Montserrat M; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Gonzalez-Bosquet, Jesus J; Iversen, Edwin E; Jim, Heather H; McLaughlin, John J; Menon, Usha U; Narod, Steven A SA; Phelan, Catherine M CM; Ramus, Susan J SJ; Risch, Harvey H; Song, Honglin H; Sutphen, Rebecca R; Terry, Kathryn L KL; Tyrer, Jonathan J; Vierkant, Robert A RA; Wentzensen, Nicolas N; Lancaster, Johnathan M JM; Cheng, Jin Q JQ; Berchuck, Andrew A; Pharoah, Paul D P PD; Schildkraut, Joellen M JM; Goode, Ellen L EL; Sellers, Thomas A TA; ,

Publication Date: 2011-08

Variant appearance in text: rs2257082

PubMed Link: 21636674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single-nucleotide polymorphisms among microRNA: big effects on cancer.

Chinese Journal Of Cancer

Song, Feng-Ju FJ; Chen, Ke-Xin KX

Publication Date: 2011-06

Variant appearance in text: rs2257082

PubMed Link: 21627860

Variant Present in the following documents:

• Main text
• cjc-30-06-381.pdf

View BVdb publication page

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Genetic variants in MicroRNA biosynthesis pathways and binding sites modify ovarian cancer risk, survival, and treatment response.

Cancer Research

Liang, Dong D; Meyer, Larissa L; Chang, David W DW; Lin, Jie J; Pu, Xia X; Ye, Yuanqing Y; Gu, Jian J; Wu, Xifeng X; Lu, Karen K

Publication Date: 2010-12-01

Variant appearance in text: rs2257082

PubMed Link: 21118967

Variant Present in the following documents:

• Main text

View BVdb publication page

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