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: rs2053071

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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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: NFKBIB: 179+80C>G; rs2053071

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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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: rs2053071

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_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: NFKBIB: 179+80C>G; rs2053071

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Correlations Between SIRT Genetic Polymorphisms and Postpartum Depressive Symptoms in Chinese Parturients Who Had Undergone Cesarean Section.

Neuropsychiatric Disease And Treatment

Luo, Shi-Chao SC; Duan, Kai-Ming KM; Fang, Chao C; Li, Dan-Yang DY; Zheng, Shan-Shan SS; Yang, Si-Qi SQ; Yang, Shu-Ting ST; Yang, Mi M; Zhang, Liang-Bin LB; Wang, Sai-Ying SY

Publication Date: 2020

Variant appearance in text: rs2053071

PubMed Link: 33380799

Variant Present in the following documents:

• Main text
• ndt-16-3225.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: rs2053071

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2053071

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Functional genetic variants within the SIRT2 gene promoter in acute myocardial infarction.

Plos One

Yang, Wentao W; Gao, Feng F; Zhang, Pei P; Pang, Shuchao S; Cui, Yinghua Y; Liu, Lixin L; Wei, Guanghe G; Yan, Bo B

Publication Date: 2017

Variant appearance in text: rs2053071

PubMed Link: 28445509

Variant Present in the following documents:

• Main text
• pone.0176245.pdf

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: rs2053071

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Association between single nucleotide polymorphisms within genes encoding sirtuin families and diabetic nephropathy in Japanese subjects with type 2 diabetes.

Clinical And Experimental Nephrology

Maeda, Shiro S; Koya, Daisuke D; Araki, Shin-Ichi SI; Babazono, Tetsuya T; Umezono, Tomoya T; Toyoda, Masao M; Kawai, Koichi K; Imanishi, Masahito M; Uzu, Takashi T; Suzuki, Daisuke D; Maegawa, Hiroshi H; Kashiwagi, Atsunori A; Iwamoto, Yasuhiko Y; Nakamura, Yusuke Y

Publication Date: 2011-06

Variant appearance in text: rs2053071

PubMed Link: 21331741

Variant Present in the following documents:

• Main text
• 10157_2011_Article_418.pdf

View BVdb publication page

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Polymorphisms in NF-kappaB inhibitors and risk of epithelial ovarian cancer.

Bmc Cancer

White, Kristin L KL; Vierkant, Robert A RA; Phelan, Catherine M CM; Fridley, Brooke L BL; Anderson, Stephanie S; Knutson, Keith L KL; Schildkraut, Joellen M JM; Cunningham, Julie M JM; Kelemen, Linda E LE; Pankratz, V Shane VS; Rider, David N DN; Liebow, Mark M; Hartmann, Lynn C LC; Sellers, Thomas A TA; Goode, Ellen L EL

Publication Date: 2009-06-06

Variant appearance in text: rs2053071

PubMed Link: 19500386

Variant Present in the following documents:

• Main text
• 1471-2407-9-170.pdf

View BVdb publication page

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