Publications:

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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: rs1042032

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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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: rs1042032

PubMed Link: 36269797

Variant Present in the following documents:

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

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Genetics Variants in the Epoxygenase Pathway of Arachidonic Metabolism Are Associated with Eicosanoids Levels and the Risk of Diabetic Nephropathy.

Journal Of Clinical Medicine

Mota-Zamorano, Sonia S; Robles, Nicolás R NR; González, Luz M LM; Valdivielso, José M JM; Lopez-Gomez, Juan J; Cancho, Bárbara B; García-Pino, Guadalupe G; Gervasini, Guillermo G

Publication Date: 2021-09-02

Variant appearance in text: rs1042032

PubMed Link: 34501433

Variant Present in the following documents:

• Main text
• jcm-10-03980.pdf

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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: rs1042032

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Preservation of epoxyeicosatrienoic acid bioavailability prevents renal allograft dysfunction and cardiovascular alterations in kidney transplant recipients.

Scientific Reports

Duflot, Thomas T; Laurent, Charlotte C; Soudey, Anne A; Fonrose, Xavier X; Hamzaoui, Mouad M; Iacob, Michèle M; Bertrand, Dominique D; Favre, Julie J; Etienne, Isabelle I; Roche, Clothilde C; Coquerel, David D; Le Besnerais, Maëlle M; Louhichi, Safa S; Tarlet, Tracy T; Li, Dongyang D; Brunel, Valéry V; Morisseau, Christophe C; Richard, Vincent V; Joannidès, Robinson R; Stanke-Labesque, Françoise F; Lamoureux, Fabien F; Guerrot, Dominique D; Bellien, Jérémy J

Publication Date: 2021-02-12

Variant appearance in text: rs1042032

PubMed Link: 33580125

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83274.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: rs1042032

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

Molecular Genetics & Genomic Medicine

Paolacci, Stefano S; Kiani, Aysha Karim AK; Manara, Elena E; Beccari, Tommaso T; Ceccarini, Maria Rachele MR; Stuppia, Liborio L; Chiurazzi, Pietro P; Dalla Ragione, Laura L; Bertelli, Matteo M

Publication Date: 2020-07

Variant appearance in text: rs1042032

PubMed Link: 32368866

Variant Present in the following documents:

• Main text
• MGG3-8-e1244.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: rs1042032

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.

Transplantation

Oetting, William S WS; Schladt, David P DP; Dorr, Casey R CR; Wu, Baolin B; Guan, Weihua W; Remmel, Rory P RP; Iklé, David D; Mannon, Roslyn B RB; Matas, Arthur J AJ; Israni, Ajay K AK; Jacobson, Pamala A PA; ,

Publication Date: 2019-08

Variant appearance in text: rs1042032

PubMed Link: 30801535

Variant Present in the following documents:

• Main text

View BVdb publication page

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A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Frontiers In Genetics

Klein, Kathrin K; Tremmel, Roman R; Winter, Stefan S; Fehr, Sarah S; Battke, Florian F; Scheurenbrand, Tim T; Schaeffeler, Elke E; Biskup, Saskia S; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2019

Variant appearance in text: rs1042032

PubMed Link: 30766545

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inhibition of Soluble Epoxide Hydrolase for Renal Health.

Frontiers In Pharmacology

Liu, Jun-Yan JY

Publication Date: 2018

Variant appearance in text: rs1042032

PubMed Link: 30687105

Variant Present in the following documents:

• Main text
• fphar-09-01551.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: rs1042032

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Controllability in an islet specific regulatory network identifies the transcriptional factor NFATC4, which regulates Type 2 Diabetes associated genes.

Npj Systems Biology And Applications

Sharma, Amitabh A; Halu, Arda A; Decano, Julius L JL; Padi, Megha M; Liu, Yang-Yu YY; Prasad, Rashmi B RB; Fadista, Joao J; Santolini, Marc M; Menche, Jörg J; Weiss, Scott T ST; Vidal, Marc M; Silverman, Edwin K EK; Aikawa, Masanori M; Barabási, Albert-László AL; Groop, Leif L; Loscalzo, Joseph J

Publication Date: 2018

Variant appearance in text: rs1042032

PubMed Link: 29977601

Variant Present in the following documents:

• Main text
• 41540_2018_Article_57.pdf

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1042032

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 7

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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: rs1042032

PubMed Link: 29221171

Variant Present in the following documents:

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

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1042032

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Integrating multi-omics biomarkers and postprandial metabolism to develop personalized treatment for anorexia nervosa.

Prostaglandins & Other Lipid Mediators

Shih, Pei-An Betty PB

Publication Date: 2017-09

Variant appearance in text: rs1042032

PubMed Link: 28232135

Variant Present in the following documents:

• Main text

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: rs1042032

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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A 3'-UTR Polymorphism in Soluble Epoxide Hydrolase Gene Is Associated with Acute Rejection in Renal Transplant Recipients.

Plos One

Gervasini, Guillermo G; García-Cerrada, Montserrat M; Coto, Eliecer E; Vergara, Esther E; García-Pino, Guadalupe G; Alvarado, Raul R; Fernández-Cavada, Maria Jesús MJ; Suárez-Álvarez, Beatriz B; Barroso, Sergio S; Doblaré, Emilio E; Díaz-Corte, Carmen C; López-Larrea, Carlos C; Cubero, Juan Jose JJ

Publication Date: 2015

Variant appearance in text: rs1042032

PubMed Link: 26230946

Variant Present in the following documents:

• Main text

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: rs1042032

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Dysregulation of soluble epoxide hydrolase and lipidomic profiles in anorexia nervosa.

Molecular Psychiatry

Shih, P B PB; Yang, J J; Morisseau, C C; German, J B JB; Zeeland, A A Scott-Van AA; Armando, A M AM; Quehenberger, O O; Bergen, A W AW; Magistretti, P P; Berrettini, W W; Halmi, K A KA; Schork, N N; Hammock, B D BD; Kaye, W W

Publication Date: 2016-04

Variant appearance in text: rs1042032

PubMed Link: 25824304

Variant Present in the following documents:

• Main text
• nihms658414.pdf

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Genome-wide association study combined with biological context can reveal more disease-related SNPs altering microRNA target seed sites.

Bmc Genomics

Wu, Di D; Yang, Gang G; Zhang, Lifang L; Xue, Jiwei J; Wen, Zhining Z; Li, Menglong M

Publication Date: 2014-08-08

Variant appearance in text: rs1042032

PubMed Link: 25106527

Variant Present in the following documents:

• Main text
• 12864_2014_Article_6678.pdf

View BVdb publication page

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Evidence for the role of EPHX2 gene variants in anorexia nervosa.

Molecular Psychiatry

Scott-Van Zeeland, A A AA; Bloss, C S CS; Tewhey, R R; Bansal, V V; Torkamani, A A; Libiger, O O; Duvvuri, V V; Wineinger, N N; Galvez, L L; Darst, B F BF; Smith, E N EN; Carson, A A; Pham, P P; Phillips, T T; Villarasa, N N; Tisch, R R; Zhang, G G; Levy, S S; Murray, S S; Chen, W W; Srinivasan, S S; Berenson, G G; Brandt, H H; Crawford, S S; Crow, S S; Fichter, M M MM; Halmi, K A KA; Johnson, C C; Kaplan, A S AS; La Via, M M; Mitchell, J E JE; Strober, M M; Rotondo, A A; Treasure, J J; Woodside, D B DB; Bulik, C M CM; Keel, P P; Klump, K L KL; Lilenfeld, L L; Plotnicov, K K; Topol, E J EJ; Shih, P B PB; Magistretti, P P; Bergen, A W AW; Berrettini, W W; Kaye, W W; Schork, N J NJ

Publication Date: 2014-06

Variant appearance in text: rs1042032

PubMed Link: 23999524

Variant Present in the following documents:

• Main text

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Impact of the Interaction between 3'-UTR SNPs and microRNA on the Expression of Human Xenobiotic Metabolism Enzyme and Transporter Genes.

Frontiers In Genetics

Wei, Rongrong R; Yang, Fan F; Urban, Thomas J TJ; Li, Lang L; Chalasani, Naga N; Flockhart, David A DA; Liu, Wanqing W

Publication Date: 2012

Variant appearance in text: rs1042032

PubMed Link: 23181071

Variant Present in the following documents:

• Main text

View BVdb publication page

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