Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: rs102274

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM4_ESM.pdf

View BVdb publication page

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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: rs102274

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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Genome-Wide Association Studies and fine-mapping of genomic loci for n-3 and n-6 Polyunsaturated Fatty Acids in Hispanic American and African American Cohorts.

Research Square

Yang, Chaojie C; Veenstra, Jenna J; Bartz, Traci T; Pahl, Matthew M; Hallmark, Brian B; Chen, Yii-Der Ida YI; Westra, Jason J; Steffen, Lyn L; Brown, Christopher C; Siscovick, David D; Tsai, Michael M; Wood, Alexis A; Rich, Stephen S; Smith, Caren C; O'Connor, Timothy T; Mozaffarian, Dariush D; Grant, Struan S; Chilton, Floyd F; Tintle, Nathan N; Lemaitre, Rozenn R; Manichaikul, Ani A

Publication Date: 2023-02-24

Variant appearance in text: rs102274

PubMed Link: 36865120

Variant Present in the following documents:

• nihpp-rs2073736v1.pdf

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: TMEM258: 113+139A>G; rs102274

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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: rs102274

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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: TMEM258: 113+139A>G; rs102274

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.

American Journal Of Human Genetics

Feofanova, Elena V EV; Chen, Han H; Dai, Yulin Y; Jia, Peilin P; Grove, Megan L ML; Morrison, Alanna C AC; Qi, Qibin Q; Daviglus, Martha M; Cai, Jianwen J; North, Kari E KE; Laurie, Cathy C CC; Kaplan, Robert C RC; Boerwinkle, Eric E; Yu, Bing B

Publication Date: 2020-11-05

Variant appearance in text: rs102274

PubMed Link: 33031748

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eicosanoid Inflammatory Mediators Are Robustly Associated With Blood Pressure in the General Population.

Journal Of The American Heart Association

Palmu, Joonatan J; Watrous, Jeramie D JD; Mercader, Kysha K; Havulinna, Aki S AS; Lagerborg, Kim A KA; Salosensaari, Aaro A; Inouye, Mike M; Larson, Martin G MG; Rong, Jian J; Vasan, Ramachandran S RS; Lahti, Leo L; Andres, Allen A; Cheng, Susan S; Jousilahti, Pekka P; Salomaa, Veikko V; Jain, Mohit M; Niiranen, Teemu J TJ

Publication Date: 2020-10-20

Variant appearance in text: rs102274

PubMed Link: 32975162

Variant Present in the following documents:

• JAH3-9-e017598.pdf

View BVdb publication page

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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: rs102274

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Multi-omics Data Integration for Identifying Osteoporosis Biomarkers and Their Biological Interaction and Causal Mechanisms.

Iscience

Qiu, Chuan C; Yu, Fangtang F; Su, Kuanjui K; Zhao, Qi Q; Zhang, Lan L; Xu, Chao C; Hu, Wenxing W; Wang, Zun Z; Zhao, Lanjuan L; Tian, Qing Q; Wang, Yuping Y; Deng, Hongwen H; Shen, Hui H

Publication Date: 2020-02-21

Variant appearance in text: rs102274

PubMed Link: 32058959

Variant Present in the following documents:

• mmc1.pdf
• main.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: rs102274

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

Journal Of The American Society Of Nephrology : Jasn

Li, Yong Y; Sekula, Peggy P; Wuttke, Matthias M; Wahrheit, Judith J; Hausknecht, Birgit B; Schultheiss, Ulla T UT; Gronwald, Wolfram W; Schlosser, Pascal P; Tucci, Sara S; Ekici, Arif B AB; Spiekerkoetter, Ute U; Kronenberg, Florian F; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Köttgen, Anna A; ,

Publication Date: 2018-05

Variant appearance in text: rs102274

PubMed Link: 29545352

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

Nature Genetics

Zhang, Ben B; Jia, Wei-Hua WH; Matsuda, Koichi K; Kweon, Sun-Seog SS; Matsuo, Keitaro K; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Cai, Qiuyin Q; Long, Jirong J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Zhang, Yanfeng Y; Li, Chun C; Li, Bingshan B; Guo, Yan Y; Ren, Zefang Z; Ji, Bu-Tian BT; Pan, Zhi-Zhong ZZ; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Ahn, Yoon-Ok YO; , ; Chan, Andrew T AT; Chang-Claude, Jenny J; Slattery, Martha L ML; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Li, Hong-Lan HL; Hosono, Satoyo S; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Zeng, Yi-Xin YX; Zheng, Wei W

Publication Date: 2014-06

Variant appearance in text: rs102274

PubMed Link: 24836286

Variant Present in the following documents:

• NIHMS588441-supplement-1.pdf

View BVdb publication page

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