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: SLC2A9: R294H

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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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs3733591

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Gene Dose-Dependent and Additive Effects of ABCG2 rs2231142 and SLC2A9 rs3733591 Genetic Polymorphisms on Serum Uric Acid Levels.

Metabolites

Park, Jin-Woo JW; Noh, Ji-Hyeon JH; Kim, Jong-Min JM; Lee, Hwa-Young HY; Kim, Kyoung-Ah KA; Park, Ji-Young JY

Publication Date: 2022-11-29

Variant appearance in text: rs3733591

PubMed Link: 36557230

Variant Present in the following documents:

• Main text
• metabolites-12-01192.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: rs3733591

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: SLC2A9: R294H

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Two Important Anticancer Mechanisms of Natural and Synthetic Chalcones.

International Journal Of Molecular Sciences

Constantinescu, Teodora T; Mihis, Alin Grig AG

Publication Date: 2022-09-30

Variant appearance in text: rs3733591

PubMed Link: 36232899

Variant Present in the following documents:

• ijms-23-11595.pdf

View BVdb publication page

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Moving the Needle in Gout Management: The Role of Culture, Diet, Genetics, and Personalized Patient Care Practices.

Nutrients

Roman, Youssef M YM

Publication Date: 2022-08-31

Variant appearance in text: rs3733591

PubMed Link: 36079846

Variant Present in the following documents:

• Main text
• nutrients-14-03590.pdf

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: SLC2A9: R294H

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Susceptibility genes of hyperuricemia and gout.

Hereditas

Nian, Yue-Li YL; You, Chong-Ge CG

Publication Date: 2022-08-04

Variant appearance in text: rs3733591

PubMed Link: 35922835

Variant Present in the following documents:

• Main text
• 41065_2022_Article_243.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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The Role of the Intestine in the Development of Hyperuricemia.

Frontiers In Immunology

Yin, Hui H; Liu, Na N; Chen, Jie J

Publication Date: 2022

Variant appearance in text: rs3733591

PubMed Link: 35281005

Variant Present in the following documents:

• Main text
• fimmu-13-845684.pdf

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: rs3733591

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: SLC2A9: R294H

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Biomedicines

Stiburkova, Blanka B; Bohatá, Jana J; Pavelcová, Kateřina K; Tasic, Velibor V; Plaseska-Karanfilska, Dijana D; Cho, Sung-Kweon SK; Potočnaková, Ludmila L; Šaligová, Jana J

Publication Date: 2021-11-03

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 34829836

Variant Present in the following documents:

• Main text
• biomedicines-09-01607.pdf

View BVdb publication page

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Quantile-Dependent Expressivity of Serum Uric Acid Concentrations.

International Journal Of Genomics

Williams, Paul T PT

Publication Date: 2021

Variant appearance in text: rs3733591

PubMed Link: 34545327

Variant Present in the following documents:

• Main text
• IJG2021-3889278.pdf

View BVdb publication page

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Urate Transporters in the Kidney: What Clinicians Need to Know.

Electrolyte & Blood Pressure : E & Bp

Chung, Sungjin S; Kim, Gheun-Ho GH

Publication Date: 2021-06

Variant appearance in text: rs3733591

PubMed Link: 34290818

Variant Present in the following documents:

• Main text
• ebp-19-1.pdf

View BVdb publication page

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Pharmacogenomic landscape of COVID-19 therapies from Indian population genomes.

Pharmacogenomics

Sahana, S S; Sivadas, Ambily A; Mangla, Mohit M; Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; Vidhya, A K AK; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; Devi, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya, J Ezhil JE; Devi, P Nirmala PN; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Prakash, Savinitha S; Joshi, Kandarp K; Kumla, Meya M; Sreedevi, S S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; Binukumar, B K BK; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2021-07

Variant appearance in text: rs3733591

PubMed Link: 34142560

Variant Present in the following documents:

• pgs-2021-0028.pdf

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: SLC2A9: 881G>A; R294H; rs3733591

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: SLC2A9: 881G>A; Arg294His; rs3733591

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: rs3733591

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: SLC2A9: 881G>A; R294H; rs3733591

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications

Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M

Publication Date: 2021-02-23

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 33623049

Variant Present in the following documents:

• 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.

Bmc Medical Genetics

Lukkunaprasit, Thitiya T; Rattanasiri, Sasivimol S; Turongkaravee, Saowalak S; Suvannang, Naravut N; Ingsathit, Atiporn A; Attia, John J; Thakkinstian, Ammarin A

Publication Date: 2020-10-21

Variant appearance in text: rs3733591

PubMed Link: 33087043

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1147.pdf

View BVdb publication page

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Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.

Journal Of Clinical Medicine

Pavelcova, Katerina K; Bohata, Jana J; Pavlikova, Marketa M; Bubenikova, Eliska E; Pavelka, Karel K; Stiburkova, Blanka B

Publication Date: 2020-08-04

Variant appearance in text: SLC2A9: 881G>A; R294H; rs3733591

PubMed Link: 32759716

Variant Present in the following documents:

• Main text
• jcm-09-02510.pdf

View BVdb publication page

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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: rs3733591

PubMed Link: 32630231

Variant Present in the following documents:

• ijms-21-04702-s001.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: SLC2A9: R294H; rs3733591

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.

Bmc Medical Genetics

Sekiya, Motohiro M; Matsuda, Takaaki T; Yamamoto, Yuki Y; Furuta, Yasuhisa Y; Ohyama, Mariko M; Murayama, Yuki Y; Sugano, Yoko Y; Ohsaki, Yoshinori Y; Iwasaki, Hitoshi H; Yahagi, Naoya N; Yatoh, Shigeru S; Suzuki, Hiroaki H; Shimano, Hitoshi H

Publication Date: 2020-05-06

Variant appearance in text: rs3733591

PubMed Link: 32375679

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1031.pdf

View BVdb publication page

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Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

Annals Of Translational Medicine

Teng, Lisha L; Zhang, Yanling Y; Ye, Luxi L; Lv, Junhao J; Mao, Youying Y; Schneider, Ronen R; Chen, Jianghua J; Jiang, Hong H; Wu, Jianyong J

Publication Date: 2020-03

Variant appearance in text: SLC2A9: R294H

PubMed Link: 32355774

Variant Present in the following documents:

• Main text
• atm-08-06-330.pdf

View BVdb publication page

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ABCG2 rs2231142 variant in hyperuricemia is modified by SLC2A9 and SLC22A12 polymorphisms and cardiovascular risk factors in an elderly community-dwelling population.

Bmc Medical Genetics

Liu, Jia J; Yang, Wei W; Li, Yun Y; Wei, Zhanyun Z; Dan, Xiaojuan X

Publication Date: 2020-03-17

Variant appearance in text: rs3733591

PubMed Link: 32183743

Variant Present in the following documents:

• Main text
• 12881_2020_Article_987.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: SLC2A9: R294H

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: SLC2A9: 881G>A; Arg294His; rs3733591

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SLC2A9: R294H; rs3733591

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Molecular Genetics & Genomic Medicine

Zhou, Zhaowei Z; Wang, Ke K; Zhou, Juan J; Wang, Can C; Li, Xinde X; Cui, Lingling L; Han, Lin L; Liu, Zhen Z; Ren, Wei W; Wang, Xuefeng X; Zhang, Keke K; Li, Zhiqiang Z; Pan, Dun D; Li, Changgui C; Shi, Yongyong Y

Publication Date: 2019-07

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 31131560

Variant Present in the following documents:

• Main text
• MGG3-7-e00722-s002.xlsx, sheet 2
• MGG3-7-e00722.pdf

View BVdb publication page

---

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: SLC2A9: R294H; rs3733591

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.

Arthritis Research & Therapy

Stiburkova, Blanka B; Pavelcova, Katerina K; Pavlikova, Marketa M; Ješina, Pavel P; Pavelka, Karel K

Publication Date: 2019-03-20

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 30894219

Variant Present in the following documents:

• Main text
• 13075_2019_Article_1860.pdf

View BVdb publication page

---

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: SLC2A9: 881G>A; rs3733591

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

---

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: SLC2A9: R294H; rs3733591

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: rs3733591

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: SLC2A9: R294H; rs3733591

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Long-term effects of the SLC2A9 G844A and SLC22A12 C246T variants on serum uric acid concentrations in children.

Bmc Pediatrics

Lee, Hye Ah HA; Park, Bo Hyun BH; Park, Eun Ae EA; Cho, Su Jin SJ; Kim, Hae Soon HS; Park, Hyesook H

Publication Date: 2018-09-06

Variant appearance in text: rs3733591

PubMed Link: 30189835

Variant Present in the following documents:

• Main text

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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: rs3733591

PubMed Link: 30123371

Variant Present in the following documents:

• Main text
• TORJ-12-94.pdf

View BVdb publication page

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