Publications:

---

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: SAT2: 376C>T; Arg126Cys; rs13894

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM6_ESM.xlsx, sheet 17
• 41588_2023_1409_MOESM4_ESM.pdf

View BVdb publication page

---

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: rs13894

PubMed Link: 36269797

Variant Present in the following documents:

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

View BVdb publication page

---

The Association of CYP17A1, CYP19A1, and SHBG Gene Polymorphisms in Polycystic Ovary Syndrome Susceptibility: A Systematic Review and Meta-Analysis.

Frontiers In Physiology

Xing, Chuan C; Zhao, Han H; Zhang, Jiaqi J; He, Bing B

Publication Date: 2022

Variant appearance in text: rs13894

PubMed Link: 35615684

Variant Present in the following documents:

• Main text
• fphys-13-741285.pdf

View BVdb publication page

---

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: SAT2: R126C

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

---

Association between sex hormone binding globulin gene polymorphism and type 2 diabetes mellitus.

International Journal Of Clinical And Experimental Pathology

Quan, Li L; Wang, Liang L; Wang, Jing J; Yuwen, Binya B; Zhu, Jun J

Publication Date: 2019

Variant appearance in text: rs13894

PubMed Link: 31934198

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: SAT2: 376C>T; R126C; rs13894

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

A metabolic profile of polyamines in parkinson disease: A promising biomarker.

Annals Of Neurology

Saiki, Shinji S; Sasazawa, Yukiko Y; Fujimaki, Motoki M; Kamagata, Koji K; Kaga, Naoko N; Taka, Hikari H; Li, Yuanzhe Y; Souma, Sanae S; Hatano, Taku T; Imamichi, Yoko Y; Furuya, Norihiko N; Mori, Akio A; Oji, Yutaka Y; Ueno, Shin-Ichi SI; Nojiri, Shuko S; Miura, Yoshiki Y; Ueno, Takashi T; Funayama, Manabu M; Aoki, Shigeki S; Hattori, Nobutaka N

Publication Date: 2019-08

Variant appearance in text: rs13894

PubMed Link: 31155745

Variant Present in the following documents:

• Main text
• ANA-86-251.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: SAT2: R126C; rs13894

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

---

Genetic polymorphisms of diabetes-related genes, their interaction with diabetes status, and breast cancer incidence and mortality: The Long Island Breast Cancer Study Project.

Molecular Carcinogenesis

Parada, Humberto H; Cleveland, Rebecca J RJ; North, Kari E KE; Stevens, June J; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Santella, Regina M RM; Martinez, Maria E ME; Gammon, Marilie D MD

Publication Date: 2019-03

Variant appearance in text: rs13894

PubMed Link: 30457165

Variant Present in the following documents:

• Main text

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: SAT2: R126C; rs13894

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: SAT2: 376C>T; Arg126Cys; rs13894

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

---

Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports

Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL

Publication Date: 2018-08-21

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 30134176

Variant Present in the following documents:

• NIHMS1520774-supplement-Table_S2.xlsx, sheet 1

View BVdb publication page

---

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: SAT2: R126C; rs13894

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs13894

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SAT2: R126C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

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: SAT2: R126C; rs13894

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

Gastroenterology

Roberts, Kari E KE; Kawut, Steven M SM; Krowka, Michael J MJ; Brown, Robert S RS; Trotter, James F JF; Shah, Vijay V; Peter, Inga I; Tighiouart, Hocine H; Mitra, Nandita N; Handorf, Elizabeth E; Knowles, James A JA; Zacks, Steven S; Fallon, Michael B MB; ,

Publication Date: 2010-07

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 20346360

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

Carcinogenesis

Freedman, Neal D ND; Ahn, Jiyoung J; Hou, Lifang L; Lissowska, Jolanta J; Zatonski, Witold W; Yeager, Meredith M; Chanock, Stephen J SJ; Chow, Wong Ho WH; Abnet, Christian C CC

Publication Date: 2009-01

Variant appearance in text: rs13894

PubMed Link: 19015200

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Asp(327)Asn polymorphism in the sex hormone-binding globulin gene modifies the association of soy food and tea intake with endometrial cancer risk.

Nutrition And Cancer

Xu, Wang Hong WH; Zheng, Wei W; Cai, Qiuyin Q; Cheng, Jia-Rong JR; Cai, Hui H; Xiang, Yong-Bing YB; Shu, Xiao Ou XO

Publication Date: 2008

Variant appearance in text: rs13894

PubMed Link: 19005973

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genome bioinformatic analysis of nonsynonymous SNPs.

Bmc Bioinformatics

Burke, David F DF; Worth, Catherine L CL; Priego, Eva-Maria EM; Cheng, Tammy T; Smink, Luc J LJ; Todd, John A JA; Blundell, Tom L TL

Publication Date: 2007-08-20

Variant appearance in text: SAT2: R126C; rs13894

PubMed Link: 17708757

Variant Present in the following documents:

• Main text
• 1471-2105-8-301.pdf

View BVdb publication page

---