Publications:

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Influence of Single-Nucleotide Polymorphisms on Clinical Outcomes of Capecitabine-Based Chemotherapy in Colorectal Cancer Patients: A Systematic Review.

Cancers

Cura, Yasmin Y; Pérez-Ramírez, Cristina C; Sánchez-Martín, Almudena A; Membrive-Jimenez, Cristina C; Valverde-Merino, María Isabel MI; González-Flores, Encarnación E; Morales, Alberto Jiménez AJ

Publication Date: 2023-03-17

Variant appearance in text: rs2790

PubMed Link: 36980706

Variant Present in the following documents:

• Main text
• cancers-15-01821.pdf

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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: rs2790

PubMed Link: 36269797

Variant Present in the following documents:

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

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Integrated analysis of competitive endogenous ribose nucleic acids (ceRNAs)-related regulatory networks in invasive and non-invasive non-functioning pituitary adenomas (NFPAs).

Frontiers In Surgery

Liu, Jiangtao J; Wang, Kaixuan K; Ji, Hongming H; Zhang, Gangli G; Chen, Shengli S; Zhang, Shiyuan S; Lu, Fake F; Hu, Changchen C

Publication Date: 2022

Variant appearance in text: rs2790

PubMed Link: 36248377

Variant Present in the following documents:

• Main text
• fsurg-09-983958.pdf

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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: rs2790

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_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: rs2790

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

American Journal Of Human Genetics

Tummala, Hemanth H; Walne, Amanda A; Buccafusca, Roberto R; Alnajar, Jenna J; Szabo, Anita A; Robinson, Peter P; McConkie-Rosell, Allyn A; Wilson, Meredith M; Crowley, Suzanne S; Kinsler, Veronica V; Ewins, Anna-Maria AM; Madapura, Pradeepa M PM; Patel, Manthan M; Pontikos, Nikolas N; Codd, Veryan V; Vulliamy, Tom T; Dokal, Inderjeet I

Publication Date: 2022-08-04

Variant appearance in text: rs2790

PubMed Link: 35931051

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study.

International Journal Of Reproductive Biomedicine

Efremova, Olesya O; Ponomarenko, Irina I; Churnosov, Mikhail M

Publication Date: 2021-12

Variant appearance in text: rs2790

PubMed Link: 35098008

Variant Present in the following documents:

• ijrb-19-1067.pdf

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3'-UTR Polymorphisms in Thymidylate Synthase with Colorectal Cancer Prevalence and Prognosis.

Journal Of Personalized Medicine

Jeon, Young-Joo YJ; Cho, Sung-Hwan SH; Kim, Eo-Jin EJ; Ryu, Chang-Soo CS; Park, Han-Sung HS; Kim, Jong-Woo JW; Lee, Jeong-Yong JY; An, Hui-Jeong HJ; Kim, Nam-Keun NK

Publication Date: 2021-06-09

Variant appearance in text: rs2790

PubMed Link: 34207922

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic Review of Pharmacogenetic Factors That Influence High-Dose Methotrexate Pharmacokinetics in Pediatric Malignancies.

Cancers

Taylor, Zachary L ZL; Vang, Jesper J; Lopez-Lopez, Elixabet E; Oosterom, Natanja N; Mikkelsen, Torben T; Ramsey, Laura B LB

Publication Date: 2021-06-07

Variant appearance in text: rs2790

PubMed Link: 34200242

Variant Present in the following documents:

• Main text
• cancers-13-02837.pdf

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The 3'-UTR Polymorphisms in the Thymidylate Synthase (TS) Gene Associated with the Risk of Ischemic Stroke and Silent Brain Infarction.

Journal Of Personalized Medicine

Kim, Jung Oh JO; Park, Han Sung HS; Ko, Eun Ju EJ; Sung, Jung Hoon JH; Kim, Jinkwon J; Oh, Seung Hun SH; Kim, Ok Joon OJ; Kim, Nam Keun NK

Publication Date: 2021-03-12

Variant appearance in text: rs2790

PubMed Link: 33809325

Variant Present in the following documents:

• Main text
• jpm-11-00200.pdf

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: rs2790

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: rs2790

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports

Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ

Publication Date: 2021-01-15

Variant appearance in text: rs2790

PubMed Link: 33452395

Variant Present in the following documents:

• 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Polymorphisms in TYMS for Prediction of Capecitabine-Induced Hand-Foot Syndrome in Chinese Patients with Colorectal Cancer.

Cancer Research And Treatment

Dong, Si-Qi SQ; Wang, Tong-Min TM; Zhang, Jiang-Bo JB; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Wu, Zi-Yi ZY; Yang, Da-Wei DW; Cao, Lian-Jing LJ; Huang, Jing-Wen JW; Li, Xi-Zhao XZ; Zhang, Pei-Fen PF; Zheng, Xiao-Hui XH; Jia, Wei-Hua WH

Publication Date: 2021-07

Variant appearance in text: rs2790

PubMed Link: 33285053

Variant Present in the following documents:

• Main text
• crt-2020-457.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: rs2790

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.

Human Molecular Genetics

Nag, Abhishek A; Kurushima, Yuko Y; Bowyer, Ruth C E RCE; Wells, Philippa M PM; Weiss, Stefan S; Pietzner, Maik M; Kocher, Thomas T; Raffler, Johannes J; Völker, Uwe U; Mangino, Massimo M; Spector, Timothy D TD; Milburn, Michael V MV; Kastenmüller, Gabi G; Mohney, Robert P RP; Suhre, Karsten K; Menni, Cristina C; Steves, Claire J CJ

Publication Date: 2020-03-27

Variant appearance in text: rs2790

PubMed Link: 31960908

Variant Present in the following documents:

• Main text
• ddz308.pdf

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Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.

Cancer Communications (London, England)

Lin, Shaoyan S; Yue, Jian J; Guan, Xiuwen X; Yuan, Peng P; Wang, Jiayu J; Luo, Yang Y; Fan, Ying Y; Cai, Ruigang R; Li, Qiao Q; Chen, Shanshan S; Zhang, Pin P; Li, Qing Q; Ma, Fei F; Xu, Binghe B

Publication Date: 2019-10-11

Variant appearance in text: rs2790

PubMed Link: 31601265

Variant Present in the following documents:

• Main text
• 40880_2019_Article_399.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: rs2790

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2790

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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3'-UTR Polymorphisms of MTHFR and TS Associated with Osteoporotic Vertebral Compression Fracture Susceptibility in Postmenopausal Women.

International Journal Of Molecular Sciences

Ahn, Tae-Keun TK; Kim, Jung Oh JO; Kim, Hyun Woo HW; Park, Han Sung HS; Shim, Jeong Hyun JH; Ropper, Alexander E AE; Han, In Bo IB; Kim, Nam Keun NK

Publication Date: 2018-03-12

Variant appearance in text: rs2790

PubMed Link: 29534533

Variant Present in the following documents:

• Main text
• ijms-19-00824.pdf

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: rs2790

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs2790

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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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: rs2790

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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Pretreatment Red Blood Cell Total Folate Concentration Is Associated With Response to Pemetrexed in Stage IV Nonsquamous Non-Small-cell Lung Cancer.

Clinical Lung Cancer

Bagley, Stephen J SJ; Vitale, Steven S; Zhang, Suhong S; Aggarwal, Charu C; Evans, Tracey L TL; Alley, Evan W EW; Cohen, Roger B RB; Langer, Corey J CJ; Blair, Ian A IA; Vachani, Anil A; Whitehead, Alexander S AS

Publication Date: 2017-03

Variant appearance in text: rs2790

PubMed Link: 27863923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk prediction for early-onset gastric carcinoma: a case-control study of polygenic gastric cancer in Han Chinese with hereditary background.

Oncotarget

Yuan, Jiajia J; Li, Yanyan Y; Tian, Tiantian T; Li, Na N; Zhu, Yan Y; Zou, Jianling J; Gao, Jing J; Shen, Lin L

Publication Date: 2016-06-07

Variant appearance in text: rs2790

PubMed Link: 27127881

Variant Present in the following documents:

• Main text
• oncotarget-07-33608-s001.pdf
• oncotarget-07-33608.pdf

View BVdb publication page

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Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

International Journal Of Molecular Sciences

Simeon, Vittorio V; Todoerti, Katia K; La Rocca, Francesco F; Caivano, Antonella A; Trino, Stefania S; Lionetti, Marta M; Agnelli, Luca L; De Luca, Luciana L; Laurenzana, Ilaria I; Neri, Antonino A; Musto, Pellegrino P

Publication Date: 2015-07-30

Variant appearance in text: rs2790

PubMed Link: 26263974

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: rs2790

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs2790

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Genetic variant rs16430 6bp > 0bp at the microRNA-binding site in TYMS and risk of sporadic breast cancer risk in non-Hispanic white women aged ≤ 55 years.

Molecular Carcinogenesis

Guan, Xiaoxiang X; Liu, Hongliang H; Ju, Jingfang J; Li, Yangkai Y; Li, Peng P; Wang, Li-E LE; Brewster, Abenaa M AM; Buchholz, Thomas A TA; Arun, Banu K BK; Wei, Qingyi Q; Liu, Zhensheng Z

Publication Date: 2015-04

Variant appearance in text: rs2790

PubMed Link: 24166930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population.

Plos One

Zhao, Jian-Yuan JY; Sun, Jing-Wei JW; Gu, Zhuo-Ya ZY; Wang, Jue J; Wang, Er-Li EL; Yang, Xue-Yan XY; Qiao, Bin B; Duan, Wen-Yuan WY; Huang, Guo-Ying GY; Wang, Hong-Yan HY

Publication Date: 2012

Variant appearance in text: rs2790

PubMed Link: 22384047

Variant Present in the following documents:

• Main text
• pone.0031644.pdf

View BVdb publication page

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs2790

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

View BVdb publication page

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Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.

Cancer Causes & Control : Ccc

Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW

Publication Date: 2011-04

Variant appearance in text: rs2790

PubMed Link: 21274745

Variant Present in the following documents:

View BVdb publication page

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Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

American Journal Of Obstetrics And Gynecology

Martinez, Carla A CA; Northrup, Hope H; Lin, Jone-Ing JI; Morrison, Alanna C AC; Fletcher, Jack M JM; Tyerman, Gayle H GH; Au, Kit Sing KS

Publication Date: 2009-10

Variant appearance in text: rs2790

PubMed Link: 19683694

Variant Present in the following documents:

• Main text

View BVdb publication page

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