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: rs5398

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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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: rs5398

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: SLC2A2: F479F

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: SLC2A2: F479F

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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: SLC2A2: 1437C>T; F479F; rs5398

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: SLC2A2: 1437C>T; F479F; rs5398

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: SLC2A2: F479F; rs5398

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs5398

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_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: SLC2A2: 1437C>T; Phe479=; rs5398

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: SLC2A2: F479F; rs5398

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: SLC2A2: 1437C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: SLC2A2: 1437C>T; Phe479Phe

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: SLC2A2: 1437C>T; F479F; rs5398

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SLC2A2: Phe479=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Prediction of Bacillus Calmette-Guerin Response in Patients with Bladder Cancer after Transurethral Resection of Bladder Tumor by Using Genetic Variation Based on Genomic Studies.

Biomed Research International

Zhang, Ning N; Jiang, Guangliang G; Liu, Xu X; Na, Rong R; Wang, Xiang X; Xu, Jianfeng J

Publication Date: 2016

Variant appearance in text: rs5398

PubMed Link: 27896277

Variant Present in the following documents:

• Main text
• BMRI2016-9859021.pdf

View BVdb publication page

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Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin.

Nature Genetics

Zhou, Kaixin K; Yee, Sook Wah SW; Seiser, Eric L EL; van Leeuwen, Nienke N; Tavendale, Roger R; Bennett, Amanda J AJ; Groves, Christopher J CJ; Coleman, Ruth L RL; van der Heijden, Amber A AA; Beulens, Joline W JW; de Keyser, Catherine E CE; Zaharenko, Linda L; Rotroff, Daniel M DM; Out, Mattijs M; Jablonski, Kathleen A KA; Chen, Ling L; Javorský, Martin M; Židzik, Jozef J; Levin, Albert M AM; Williams, L Keoki LK; Dujic, Tanja T; Semiz, Sabina S; Kubo, Michiaki M; Chien, Huan-Chieh HC; Maeda, Shiro S; Witte, John S JS; Wu, Longyang L; Tkáč, Ivan I; Kooy, Adriaan A; van Schaik, Ron H N RHN; Stehouwer, Coen D A CDA; Logie, Lisa L; , ; , ; , ; Sutherland, Calum C; Klovins, Janis J; Pirags, Valdis V; Hofman, Albert A; Stricker, Bruno H BH; Motsinger-Reif, Alison A AA; Wagner, Michael J MJ; Innocenti, Federico F; 't Hart, Leen M LM; Holman, Rury R RR; McCarthy, Mark I MI; Hedderson, Monique M MM; Palmer, Colin N A CNA; Florez, Jose C JC; Giacomini, Kathleen M KM; Pearson, Ewan R ER

Publication Date: 2016-09

Variant appearance in text: rs5398

PubMed Link: 27500523

Variant Present in the following documents:

• Main text
• emss-69042.pdf

View BVdb publication page

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Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes.

Molecular Medicine Reports

Sun, Xiaojuan X; Sui, Weiguo W; Wang, Xiaobing X; Hou, Xianliang X; Ou, Minglin M; Dai, Yong Y; Xiang, Yueying Y

Publication Date: 2016-05

Variant appearance in text: rs5398

PubMed Link: 27035118

Variant Present in the following documents:

• Main text
• mmr-13-05-3735.pdf

View BVdb publication page

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Genetic Variation in Human Vitamin C Transporter Genes in Common Complex Diseases.

Advances In Nutrition (Bethesda, Md.)

Shaghaghi, Mandana Amir MA; Kloss, Olena O; Eck, Peter P

Publication Date: 2016-03

Variant appearance in text: rs5398

PubMed Link: 26980812

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: SLC2A2: F479F; rs5398

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Polymorphisms in sweet taste genes (TAS1R2 and GLUT2), sweet liking, and dental caries prevalence in an adult Italian population.

Genes & Nutrition

Robino, Antonietta A; Bevilacqua, Lorenzo L; Pirastu, Nicola N; Situlin, Roberta R; Di Lenarda, Roberto R; Gasparini, Paolo P; Navarra, Chiara Ottavia CO

Publication Date: 2015-09

Variant appearance in text: rs5398

PubMed Link: 26268603

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Ruggiero, Jaclyn E JE; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2015-06

Variant appearance in text: GLUT2: F479F; rs5398

PubMed Link: 25776730

Variant Present in the following documents:

• Main text

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: SLC2A2: F479F; rs5398

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: SLC2A2: F479F; rs5398

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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Impact of genetic polymorphisms of SLC2A2, SLC2A5, and KHK on metabolic phenotypes in hypertensive individuals.

Plos One

Le, MyPhuong T MT; Lobmeyer, Maximilian T MT; Campbell, Marcus M; Cheng, Jing J; Wang, Zhiying Z; Turner, Stephen T ST; Chapman, Arlene B AB; Boerwinkle, Eric E; Gums, John G JG; Gong, Yan Y; Johnson, Richard J RJ; Johnson, Julie A JA

Publication Date: 2013

Variant appearance in text: rs5398

PubMed Link: 23341889

Variant Present in the following documents:

• Main text
• pone.0052062.pdf

View BVdb publication page

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Genome-wide significant association between a 'negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1.

Translational Psychiatry

Meier, S S; Mattheisen, M M; Vassos, E E; Strohmaier, J J; Treutlein, J J; Josef, F F; Breuer, R R; Degenhardt, F F; Mühleisen, T W TW; Müller-Myhsok, B B; Steffens, M M; Schmael, C C; McMahon, F J FJ; , ; Nöthen, M M MM; Cichon, S S; Schulze, T G TG; Rietschel, M M; Kelsoe, John R JR; Greenwood, Tiffany A TA; Nievergelt, Caroline M CM; Barrett, Thomas B TB; McKinney, Rebecca R; Shilling, Paul D PD; Schork, Nicholas J NJ; Smith, Erin N EN; Bloss, Cinnamon S CS; Nurnberger, John J; Edenberg, Howard J HJ; Foroud, Tatiana T; Koller, Daniel L DL; Gershon, Elliot S ES; Liu, Chun-Yu CY; Badner, Judith A JA; Scheftner, William W; Lawson, William B WB; Nwulia, Evaristus A EA; Hipolito, Maria M; Coryell, William W; Rice, John J; Byerley, William W; McMahon, Francis F; Chen, David T W DT; Schulze, Thomas G TG; Berrettini, Wade W; Potash, James B JB; Zandi, Peter P PP; Mahon, Pamela B PB; McInnis, Melvin M; Craig, David D; Szelinger, Szabolcs S

Publication Date: 2012-09-25

Variant appearance in text: rs5398

PubMed Link: 23010768

Variant Present in the following documents:

• Main text

View BVdb publication page

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