SLC17A1 c.207+3245T>A

Variant ID: 6-25823444-A-T

NM_005074.3(SLC17A1):c.207+3245T>A

This variant was identified in 33 publications

View GRCh38 version.




Publications:


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: rs1183201
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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The impact of genetic variability in urate transporters on oxypurinol pharmacokinetics.

Clinical And Translational Science
Hishe, Hailemichael Z HZ; Stocker, Sophie L SL; Stamp, Lisa K LK; Dalbeth, Nicola N; Merriman, Tony R TR; Phipps-Green, Amanda A; Wright, Daniel F B DFB
Publication Date: 2022-11-17

Variant appearance in text: rs1183201
PubMed Link: 36398357
Variant Present in the following documents:
  • Main text
  • CTS-16-422.pdf
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Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study.

Nutrients
Zhang, Xinruo X; Mass, Baba B BB; Talevi, Valentina V; Hou, Ruixue R; North, Kari E KE; Voruganti, Venkata Saroja VS
Publication Date: 2022-09-28

Variant appearance in text: rs1183201
PubMed Link: 36235682
Variant Present in the following documents:
  • Main text
  • nutrients-14-04030.pdf
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Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.

Frontiers In Cell And Developmental Biology
Zhao, Jianan J; Guo, Shicheng S; Schrodi, Steven J SJ; He, Dongyi D
Publication Date: 2022

Variant appearance in text: rs1183201
PubMed Link: 35813212
Variant Present in the following documents:
  • Main text
  • fcell-10-937855.pdf
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Examining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants.

Pharmacogenomics And Personalized Medicine
Ye, Jianpin J; Zeng, Zhiwei Z; Chen, Yuxian Y; Wu, Zhenkun Z; Yang, Qingwei Q; Sun, Tao T
Publication Date: 2022

Variant appearance in text: rs1183201
PubMed Link: 35702613
Variant Present in the following documents:
  • Main text
  • pgpm-15-589.pdf
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Cardiometabolic genomics and pharmacogenomics investigations in Filipino Americans: Steps towards precision health and reducing health disparities.

American Heart Journal Plus : Cardiology Research And Practice
Roman, Youssef M YM; McClish, Donna D; Price, Elvin T ET; Sabo, Roy T RT; Woodward, Owen M OM; Mersha, Tesfaye B TB; Shah, Nehal N; Armada, Andrew A; Terkeltaub, Robert R
Publication Date: 2022-03

Variant appearance in text: rs1183201
PubMed Link: 35647570
Variant Present in the following documents:
  • nihms-1809248.pdf
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Genetic assessment of hyperuricemia and gout in Asian, Native Hawaiian, and Pacific Islander subgroups of pregnant women: biospecimens repository cross-sectional study.

Bmc Rheumatology
Alghubayshi, Ali A; Edelman, Alison A; Alrajeh, Khalifa K; Roman, Youssef Y
Publication Date: 2022-01-06

Variant appearance in text: rs1183201
PubMed Link: 34986901
Variant Present in the following documents:
  • Main text
  • 41927_2021_Article_239.pdf
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Genetic assessment of hyperuricemia and gout in Asian, Native Hawaiian, and Pacific Islander subgroups of pregnant women: biospecimens repository cross-sectional study.

Bmc Rheumatology
Alghubayshi, Ali A; Edelman, Alison A; Alrajeh, Khalifa K; Roman, Youssef Y
Publication Date: 2022-01-06

Variant appearance in text: rs1183201
PubMed Link: 34986901
Variant Present in the following documents:
  • Main text
  • 41927_2021_Article_239.pdf
View BVdb publication page



The Epidemiology and Genetics of Hyperuricemia and Gout across Major Racial Groups: A Literature Review and Population Genetics Secondary Database Analysis.

Journal Of Personalized Medicine
Butler, Faven F; Alghubayshi, Ali A; Roman, Youssef Y
Publication Date: 2021-03-22

Variant appearance in text: rs1183201
PubMed Link: 33810064
Variant Present in the following documents:
  • Main text
  • jpm-11-00231.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs1183201
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs1183201
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
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Mendelian randomization study of serum uric acid levels and diabetes risk: evidence from the Dongfeng-Tongji cohort.

Bmj Open Diabetes Research & Care
Keerman, Mulatibieke M; Yang, Fen F; Hu, Hua H; Wang, Jing J; Wang, Fei F; Li, Zhaoyang Z; Yuan, Jing J; Yao, Ping P; Zhang, Xiaomin X; Guo, Huan H; Yang, Handong H; He, Meian M
Publication Date: 2020-02

Variant appearance in text: rs1183201
PubMed Link: 32111716
Variant Present in the following documents:
  • bmjdrc-2019-000834supp001.pdf
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Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.

The Open Rheumatology Journal
Zhu, Weifeng W; Deng, Yan Y; Zhou, Xiaodong X
Publication Date: 2018

Variant appearance in text: rs1183201
PubMed Link: 30123371
Variant Present in the following documents:
  • Main text
  • TORJ-12-94.pdf
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The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool.

British Journal Of Clinical Pharmacology
Wright, Daniel F B DFB; Dalbeth, Nicola N; Phipps-Green, Amanda J AJ; Merriman, Tony R TR; Barclay, Murray L ML; Drake, Jill J; Tan, Paul P; Horne, Anne A; Stamp, Lisa K LK
Publication Date: 2018-05

Variant appearance in text: rs1183201
PubMed Link: 29341237
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of genetic polymorphisms associated with hyperuricemia or gout in the Hmong.

Personalized Medicine
Roman, Youssef M YM; Culhane-Pera, Kathleen A KA; Menk, Jeremiah J; Straka, Robert J RJ
Publication Date: 2016-09

Variant appearance in text: rs1183201
PubMed Link: 28781600
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout.

Arthritis Research & Therapy
Rasheed, Humaira H; Stamp, Lisa K LK; Dalbeth, Nicola N; Merriman, Tony R TR
Publication Date: 2017-07-05

Variant appearance in text: rs1183201
PubMed Link: 28679452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Scientific Reports
Li, Zhiqiang Z; Zhou, Zhaowei Z; Hou, Xu X; Lu, Dajiang D; Yuan, Xuan X; Lu, Jie J; Wang, Can C; Han, Lin L; Cui, Lingling L; Liu, Zhen Z; Chen, Jianhua J; Cheng, Xiaoyu X; Zhang, Keke K; Ji, Jue J; Jia, Zhaotong Z; Ma, Lidan L; Xin, Ying Y; Liu, Tian T; Yu, Qing Q; Ren, Wei W; Wang, Xuefeng X; Li, Xinde X; Mi, Qing-Sheng QS; Shi, Yongyong Y; Li, Changgui C
Publication Date: 2017-06-22

Variant appearance in text: rs1183201
PubMed Link: 28642574
Variant Present in the following documents:
View BVdb publication page



GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

Annals Of The Rheumatic Diseases
Nakayama, Akiyoshi A; Nakaoka, Hirofumi H; Yamamoto, Ken K; Sakiyama, Masayuki M; Shaukat, Amara A; Toyoda, Yu Y; Okada, Yukinori Y; Kamatani, Yoichiro Y; Nakamura, Takahiro T; Takada, Tappei T; Inoue, Katsuhisa K; Yasujima, Tomoya T; Yuasa, Hiroaki H; Shirahama, Yuko Y; Nakashima, Hiroshi H; Shimizu, Seiko S; Higashino, Toshihide T; Kawamura, Yusuke Y; Ogata, Hiraku H; Kawaguchi, Makoto M; Ohkawa, Yasuyuki Y; Danjoh, Inaho I; Tokumasu, Atsumi A; Ooyama, Keiko K; Ito, Toshimitsu T; Kondo, Takaaki T; Wakai, Kenji K; Stiburkova, Blanka B; Pavelka, Karel K; Stamp, Lisa K LK; Dalbeth, Nicola N; , ; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Hosoyamada, Makoto M; Fujimori, Shin S; Yokoo, Takashi T; Hosoya, Tatsuo T; Inoue, Ituro I; Takahashi, Atsushi A; Kubo, Michiaki M; Ooyama, Hiroshi H; Shimizu, Toru T; Ichida, Kimiyoshi K; Shinomiya, Nariyoshi N; Merriman, Tony R TR; Matsuo, Hirotaka H; ,
Publication Date: 2017-05

Variant appearance in text: rs1183201
PubMed Link: 27899376
Variant Present in the following documents:
  • Main text
  • annrheumdis-2016-209632.pdf
  • annrheumdis-2016-209632supp001.pdf
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Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Publication Date: 2016-07

Variant appearance in text: rs1183201
PubMed Link: 27437086
Variant Present in the following documents:
  • Main text
  • tr-32-195.pdf
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SHEsisPlus, a toolset for genetic studies on polyploid species.

Scientific Reports
Shen, Jiawei J; Li, Zhiqiang Z; Chen, Jianhua J; Song, Zhijian Z; Zhou, Zhaowei Z; Shi, Yongyong Y
Publication Date: 2016-04-06

Variant appearance in text: rs1183201
PubMed Link: 27048905
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis.

The Lancet. Diabetes & Endocrinology
White, Jon J; Sofat, Reecha R; Hemani, Gibran G; Shah, Tina T; Engmann, Jorgen J; Dale, Caroline C; Shah, Sonia S; Kruger, Felix A FA; Giambartolomei, Claudia C; Swerdlow, Daniel I DI; Palmer, Tom T; McLachlan, Stela S; Langenberg, Claudia C; Zabaneh, Delilah D; Lovering, Ruth R; Cavadino, Alana A; Jefferis, Barbara B; Finan, Chris C; Wong, Andrew A; Amuzu, Antoinette A; Ong, Ken K; Gaunt, Tom R TR; Warren, Helen H; Davies, Teri-Louise TL; Drenos, Fotios F; Cooper, Jackie J; Ebrahim, Shah S; Lawlor, Debbie A DA; Talmud, Philippa J PJ; Humphries, Steve E SE; Power, Christine C; Hypponen, Elina E; Richards, Marcus M; Hardy, Rebecca R; Kuh, Diana D; Wareham, Nicholas N; Ben-Shlomo, Yoav Y; Day, Ian N IN; Whincup, Peter P; Morris, Richard R; Strachan, Mark W J MW; Price, Jacqueline J; Kumari, Meena M; Kivimaki, Mika M; Plagnol, Vincent V; Whittaker, John C JC; , ; Smith, George Davey GD; Dudbridge, Frank F; Casas, Juan P JP; Holmes, Michael V MV; Hingorani, Aroon D AD; ,
Publication Date: 2016-04

Variant appearance in text: rs1183201
PubMed Link: 26781229
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Predicting allopurinol response in patients with gout.

British Journal Of Clinical Pharmacology
Wright, Daniel F B DF; Duffull, Stephen B SB; Merriman, Tony R TR; Dalbeth, Nicola N; Barclay, Murray L ML; Stamp, Lisa K LK
Publication Date: 2016-02

Variant appearance in text: rs1183201
PubMed Link: 26451524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.

Bmc Medical Genetics
Zhou, Zhao-Wei ZW; Cui, Ling-Ling LL; Han, Lin L; Wang, Can C; Song, Zhi-Jian ZJ; Shen, Jia-Wei JW; Li, Zhi-Qiang ZQ; Chen, Jian-Hua JH; Wen, Zu-Jia ZJ; Wang, Xiao-Min XM; Shi, Yong-Yong YY; Li, Chang-Gui CG
Publication Date: 2015-08-20

Variant appearance in text: rs1183201
PubMed Link: 26290326
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants related to serum uric acid concentrations are associated with glucose metabolism and insulin secretion in a Chinese population.

Plos One
Sun, Xue X; Zhang, Rong R; Jiang, Feng F; Tang, Shanshan S; Chen, Miao M; Peng, Danfeng D; Yan, Jing J; Wang, Tao T; Wang, Shiyun S; Bao, Yuqian Y; Hu, Cheng C; Jia, Weiping W
Publication Date: 2015

Variant appearance in text: rs1183201
PubMed Link: 25617895
Variant Present in the following documents:
  • Main text
  • pone.0116714.pdf
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Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population.

Acta Pharmacologica Sinica
Sun, Xue X; Jiang, Feng F; Zhang, Rong R; Tang, Shan-shan SS; Chen, Miao M; Peng, Dan-feng DF; Yan, Jing J; Wang, Tao T; Wang, Shi-yun SY; Bao, Yu-qian YQ; Hu, Cheng C; Jia, Wei-ping WP
Publication Date: 2014-11

Variant appearance in text: rs1183201
PubMed Link: 25283508
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomization provides no evidence for a causal role of serum urate in increasing serum triglyceride levels.

Circulation. Cardiovascular Genetics
Rasheed, Humaira H; Hughes, Kim K; Flynn, Tanya J TJ; Merriman, Tony R TR
Publication Date: 2014-12

Variant appearance in text: rs1183201
PubMed Link: 25249548
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.

Bmc Medical Genomics
Yang, Binyao B; Mo, Zengnan Z; Wu, Chen C; Yang, Handong H; Yang, Xiaobo X; He, Yunfeng Y; Gui, Lixuan L; Zhou, Li L; Guo, Huan H; Zhang, Xiaomin X; Yuan, Jing J; Dai, Xiayun X; Li, Jun J; Qiu, Gaokun G; Huang, Suli S; Deng, Qifei Q; Feng, Yingying Y; Guan, Lei L; Hu, Die D; Zhang, Xiao X; Wang, Tian T; Zhu, Jiang J; Min, Xinwen X; Lang, Mingjian M; Li, Dongfeng D; Hu, Frank B FB; Lin, Dongxin D; Wu, Tangchun T; He, Meian M
Publication Date: 2014-02-11

Variant appearance in text: rs1183201
PubMed Link: 24513273
Variant Present in the following documents:
  • Main text
  • 1755-8794-7-10.pdf
View BVdb publication page



Mendelian randomization analysis associates increased serum urate, due to genetic variation in uric acid transporters, with improved renal function.

Kidney International
Hughes, Kim K; Flynn, Tanya T; de Zoysa, Janak J; Dalbeth, Nicola N; Merriman, Tony R TR
Publication Date: 2014-02

Variant appearance in text: rs1183201
PubMed Link: 24048376
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of hyperuricaemia and gout.

Nature Reviews. Rheumatology
Reginato, Anthony M AM; Mount, David B DB; Yang, Irene I; Choi, Hyon K HK
Publication Date: 2012-10

Variant appearance in text: rs1183201
PubMed Link: 22945592
Variant Present in the following documents:
  • Main text
View BVdb publication page



The renal urate transporter SLC17A1 locus: confirmation of association with gout.

Arthritis Research & Therapy
Hollis-Moffatt, Jade E JE; Phipps-Green, Amanda J AJ; Chapman, Brett B; Jones, Gregory T GT; van Rij, Andre A; Gow, Peter J PJ; Harrison, Andrew A AA; Highton, John J; Jones, Peter B PB; Montgomery, Grant W GW; Stamp, Lisa K LK; Dalbeth, Nicola N; Merriman, Tony R TR
Publication Date: 2012-04-27

Variant appearance in text: rs1183201
PubMed Link: 22541845
Variant Present in the following documents:
  • Main text
  • ar3816.pdf
View BVdb publication page



Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.

Annals Of Human Genetics
Karns, Rebekah R; Zhang, Ge G; Sun, Guangyun G; Rao Indugula, Subba S; Cheng, Hong H; Havas-Augustin, Dubravka D; Novokmet, Natalija N; Rudan, Dusko D; Durakovic, Zijad Z; Missoni, Sasa S; Chakraborty, Ranajit R; Rudan, Pavao P; Deka, Ranjan R
Publication Date: 2012-03

Variant appearance in text: rs1183201
PubMed Link: 22229870
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

Human Molecular Genetics
Tin, Adrienne A; Woodward, Owen M OM; Kao, Wen Hong Linda WH; Liu, Ching-Ti CT; Lu, Xiaoning X; Nalls, Michael A MA; Shriner, Daniel D; Semmo, Mariam M; Akylbekova, Ermeg L EL; Wyatt, Sharon B SB; Hwang, Shih-Jen SJ; Yang, Qiong Q; Zonderman, Alan B AB; Adeyemo, Adebowale A AA; Palmer, Cameron C; Meng, Yan Y; Reilly, Muredach M; Shlipak, Michael G MG; Siscovick, David D; Evans, Michele K MK; Rotimi, Charles N CN; Flessner, Michael F MF; Köttgen, Michael M; Cupples, L Adrienne LA; Fox, Caroline S CS; Köttgen, Anna A; ,
Publication Date: 2011-10-15

Variant appearance in text: rs1183201
PubMed Link: 21768215
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.

Plos One
Stark, Klaus K; Reinhard, Wibke W; Grassl, Martina M; Erdmann, Jeanette J; Schunkert, Heribert H; Illig, Thomas T; Hengstenberg, Christian C
Publication Date: 2009-11-05

Variant appearance in text: rs1183201
PubMed Link: 19890391
Variant Present in the following documents:
  • Main text
  • pone.0007729.pdf
View BVdb publication page



Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

Plos Genetics
Kolz, Melanie M; Johnson, Toby T; Sanna, Serena S; Teumer, Alexander A; Vitart, Veronique V; Perola, Markus M; Mangino, Massimo M; Albrecht, Eva E; Wallace, Chris C; Farrall, Martin M; Johansson, Asa A; Nyholt, Dale R DR; Aulchenko, Yurii Y; Beckmann, Jacques S JS; Bergmann, Sven S; Bochud, Murielle M; Brown, Morris M; Campbell, Harry H; , ; Connell, John J; Dominiczak, Anna A; Homuth, Georg G; Lamina, Claudia C; McCarthy, Mark I MI; , ; Meitinger, Thomas T; Mooser, Vincent V; Munroe, Patricia P; Nauck, Matthias M; Peden, John J; Prokisch, Holger H; Salo, Perttu P; Salomaa, Veikko V; Samani, Nilesh J NJ; Schlessinger, David D; Uda, Manuela M; Völker, Uwe U; Waeber, Gérard G; Waterworth, Dawn D; Wang-Sattler, Rui R; Wright, Alan F AF; Adamski, Jerzy J; Whitfield, John B JB; Gyllensten, Ulf U; Wilson, James F JF; Rudan, Igor I; Pramstaller, Peter P; Watkins, Hugh H; , ; Doering, Angela A; Wichmann, H-Erich HE; , ; Spector, Tim D TD; Peltonen, Leena L; Völzke, Henry H; Nagaraja, Ramaiah R; Vollenweider, Peter P; Caulfield, Mark M; , ; Illig, Thomas T; Gieger, Christian C
Publication Date: 2009-06

Variant appearance in text: rs1183201
PubMed Link: 19503597
Variant Present in the following documents:
  • Main text
View BVdb publication page