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: rs2248814

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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PGAGP: Predicting pathogenic genes based on adaptive network embedding algorithm.

Frontiers In Genetics

Zhang, Yan Y; Xiang, Ju J; Tang, Liang L; Yang, Jialiang J; Li, Jianming J

Publication Date: 2022

Variant appearance in text: rs2248814

PubMed Link: 36744177

Variant Present in the following documents:

• Main text
• fgene-13-1087784.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: NOS2: 1477-52T>C; rs2248814

PubMed Link: 36409824

Variant Present in the following documents:

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

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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: rs2248814

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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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: rs2248814

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review.

Life (Basel, Switzerland)

Ribbans, William J WJ; September, Alison V AV; Collins, Malcolm M

Publication Date: 2022-04-29

Variant appearance in text: rs2248814

PubMed Link: 35629331

Variant Present in the following documents:

• Main text
• life-12-00663.pdf

View BVdb publication page

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Biological and molecular profile of fracture non-union tissue: A systematic review and an update on current insights.

Journal Of Cellular And Molecular Medicine

Panteli, Michalis M; Vun, James S H JSH; Pountos, Ippokratis I; J Howard, Anthony A; Jones, Elena E; Giannoudis, Peter V PV

Publication Date: 2022-01-04

Variant appearance in text: rs2248814

PubMed Link: 34984803

Variant Present in the following documents:

• Main text
• JCMM-26-601.pdf

View BVdb publication page

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Biological and molecular profile of fracture non-union tissue: A systematic review and an update on current insights.

Journal Of Cellular And Molecular Medicine

Panteli, Michalis M; Vun, James S H JSH; Pountos, Ippokratis I; J Howard, Anthony A; Jones, Elena E; Giannoudis, Peter V PV

Publication Date: 2022-02

Variant appearance in text: rs2248814

PubMed Link: 34984803

Variant Present in the following documents:

• Main text
• JCMM-26-601.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: NOS2: 1477-52T>C; rs2248814

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prospects for the Personalized Multimodal Therapy Approach to Pain Management via Action on NO and NOS.

Molecules (Basel, Switzerland)

Shnayder, Natalia A NA; Petrova, Marina M MM; Popova, Tatiana E TE; Davidova, Tatiana K TK; Bobrova, Olga P OP; Trefilova, Vera V VV; Goncharova, Polina S PS; Balberova, Olga V OV; Petrov, Kirill V KV; Gavrilyuk, Oksana A OA; Soloveva, Irina A IA; Medvedev, German V GV; Nasyrova, Regina F RF

Publication Date: 2021-04-22

Variant appearance in text: rs2248814

PubMed Link: 33921984

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Factors of Nitric Oxide's System in Psychoneurologic Disorders.

International Journal Of Molecular Sciences

Nasyrova, Regina F RF; Moskaleva, Polina V PV; Vaiman, Elena E EE; Shnayder, Natalya A NA; Blatt, Nataliya L NL; Rizvanov, Albert A AA

Publication Date: 2020-02-26

Variant appearance in text: rs2248814

PubMed Link: 32111088

Variant Present in the following documents:

• Main text
• ijms-21-01604.pdf

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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: rs2248814

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

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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: NOS2: 1477-52T>C; rs2248814

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Molecular pathogenesis of fracture nonunion.

Journal Of Orthopaedic Translation

Ding, Zi-Chuan ZC; Lin, Yi-Kai YK; Gan, Yao-Kai YK; Tang, Ting-Ting TT

Publication Date: 2018-07

Variant appearance in text: rs2248814

PubMed Link: 30035032

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic polymorphisms of NOS2 and predisposition to fracture non-union: A case control study based on Han Chinese population.

Plos One

Huang, Wei W; Zhang, Kun K; Zhu, Yangjun Y; Wang, Zhan Z; Li, Zijun Z; Zhang, Jun J

Publication Date: 2018

Variant appearance in text: rs2248814

PubMed Link: 29518099

Variant Present in the following documents:

• Main text
• pone.0193673.pdf

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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology

Singh, Mahavir M; Tyagi, Suresh C SC

Publication Date: 2018

Variant appearance in text: rs2248814

PubMed Link: 29376001

Variant Present in the following documents:

• Main text

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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: rs2248814

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Editor's Highlight: Modifying Role of Endothelial Function Gene Variants on the Association of Long-Term PM2.5 Exposure With Blood DNA Methylation Age: The VA Normative Aging Study.

Toxicological Sciences : An Official Journal Of The Society Of Toxicology

Nwanaji-Enwerem, Jamaji C JC; Bind, Marie-Abele MA; Dai, Lingzhen L; Oulhote, Youssef Y; Colicino, Elena E; Di, Qian Q; Just, Allan C AC; Hou, Lifang L; Vokonas, Pantel P; Coull, Brent A BA; Weisskopf, Marc G MG; Baccarelli, Andrea A AA; Schwartz, Joel D JD

Publication Date: 2017-07-01

Variant appearance in text: rs2248814

PubMed Link: 28486674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease.

Parkinson'S Disease

Polito, Letizia L; Greco, Antonio A; Seripa, Davide D

Publication Date: 2016

Variant appearance in text: rs2248814

PubMed Link: 26942037

Variant Present in the following documents:

• Main text
• PD2016-6465793.pdf

View BVdb publication page

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Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.

Annals Of Human Genetics

Ayala-Haedo, Juan A JA; Gallins, Paul J PJ; Whitehead, Patrice L PL; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Postel, Eric A EA; Agarwal, Anita A; Wang, Gaofeng G; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Scott, William K WK

Publication Date: 2010-05

Variant appearance in text: rs2248814

PubMed Link: 20374233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Apolipoprotein E/C1 locus variants modify renal cell carcinoma risk.

Cancer Research

Moore, Lee E LE; Brennan, Paul P; Karami, Sara S; Menashe, Idan I; Berndt, Sonja I SI; Dong, Linda M LM; Meisner, Allison A; Yeager, Meredith M; Chanock, Stephen S; Colt, Joanne J; Schwartz, Kendra K; Davis, Faith F; Zaridze, David D; Mattveev, Vsevolod V; Janout, Vladimir V; Kollarova, Hellena H; Bencko, Vladimir V; Navratilova, Marie M; Szeszenia-Dabrowska, Neonilia N; Mates, Dana D; Holcatova, Ivana I; Boffetta, Paolo P; Chow, Wong-Ho WH; Rosenberg, Philip S PS; Rothman, Nathaniel N

Publication Date: 2009-10-15

Variant appearance in text: rs2248814

PubMed Link: 19808960

Variant Present in the following documents:

• Main text

View BVdb publication page

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NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans.

Human Genetics

Velez, Digna Rosa DR; Hulme, William F WF; Myers, Jamie L JL; Weinberg, J Brice JB; Levesque, Marc C MC; Stryjewski, Martin E ME; Abbate, Eduardo E; Estevan, Rosa R; Patillo, Sara G SG; Gilbert, John R JR; Hamilton, Carol D CD; Scott, William K WK

Publication Date: 2009-11

Variant appearance in text: rs2248814

PubMed Link: 19575238

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Han, Xuesong X; Zheng, Tongzhang T; Lan, Qing Q; Zhang, Yaqun Y; Kilfoy, Briseis A BA; Qin, Qin Q; Rothman, Nathaniel N; Zahm, Shelia H SH; Holford, Theodore R TR; Leaderer, Brian B; Zhang, Yawei Y

Publication Date: 2009-05

Variant appearance in text: rs2248814

PubMed Link: 19423521

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.

Neurogenetics

Hancock, Dana B DB; Martin, Eden R ER; Vance, Jeffery M JM; Scott, William K WK

Publication Date: 2008-10

Variant appearance in text: rs2248814

PubMed Link: 18663495

Variant Present in the following documents:

• Main text

View BVdb publication page

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