Publications:

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Impact of NK Cell Activating Receptor Gene Variants on Receptor Expression and Outcome of Immunotherapy in Acute Myeloid Leukemia.

Frontiers In Immunology

Hussein, Brwa Ali BA; Hallner, Alexander A; Wennström, Lovisa L; Brune, Mats M; Martner, Anna A; Hellstrand, Kristoffer K; Bernson, Elin E; Thorén, Fredrik B FB

Publication Date: 2021

Variant appearance in text: rs1052248

PubMed Link: 34956230

Variant Present in the following documents:

• Main text
• fimmu-12-796072.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs1052248

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs1052248

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

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: rs1052248

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs1052248

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.

Nature Communications

Tian, Chao C; Hromatka, Bethann S BS; Kiefer, Amy K AK; Eriksson, Nicholas N; Noble, Suzanne M SM; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2017-09-19

Variant appearance in text: rs1052248

PubMed Link: 28928442

Variant Present in the following documents:

• Main text
• 41467_2017_Article_257.pdf

View BVdb publication page

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A population-based case-control study of genetic variation in cytokine genes associated with risk of cervical and vulvar cancers.

Gynecologic Oncology

Hardikar, Sheetal S; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; Galloway, Denise A DA; Schwartz, Stephen M SM; Madeleine, Margaret M MM

Publication Date: 2015-10

Variant appearance in text: rs1052248

PubMed Link: 26241630

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs1052248

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Genetic variation on the BAT1-NFKBIL1-LTA region of major histocompatibility complex class III associates with periodontitis.

Infection And Immunity

Kallio, K A Elisa KA; Marchesani, Marja M; Vlachopoulou, Efthymia E; Mäntylä, Päivi P; Paju, Susanna S; Buhlin, Kåre K; Suominen, Anna L AL; Contreras, Johanna J; Knuuttila, Matti M; Hernandez, Marcela M; Huumonen, Sisko S; Nieminen, Markku S MS; Perola, Markus M; Sinisalo, Juha J; Lokki, Marja-Liisa ML; Pussinen, Pirkko J PJ

Publication Date: 2014-05

Variant appearance in text: rs1052248

PubMed Link: 24566624

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the TLR and NF-κB pathways and cervical and vulvar cancer risk: a population-based case-control study.

International Journal Of Cancer

Bodelon, Clara C; Madeleine, Margaret M MM; Johnson, Lisa G LG; Du, Qin Q; Galloway, Denise A DA; Malkki, Mari M; Petersdorf, Effie W EW; Schwartz, Stephen M SM

Publication Date: 2014-01-15

Variant appearance in text: rs1052248

PubMed Link: 23824834

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study.

Bmc Cancer

Resler, Alexa J AJ; Malone, Kathleen E KE; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; McKnight, Barbara B; Madeleine, Margaret M MM

Publication Date: 2013-05-01

Variant appearance in text: rs1052248

PubMed Link: 23634849

Variant Present in the following documents:

View BVdb publication page

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The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy.

Plos One

Urbanek, Margrit M; Hayes, M Geoffrey MG; Lee, Hoon H; Freathy, Rachel M RM; Lowe, Lynn P LP; Ackerman, Christine C; Jafari, Nadereh N; Dyer, Alan R AR; Cox, Nancy J NJ; Dunger, David B DB; Hattersley, Andrew T AT; Metzger, Boyd E BE; Lowe, William L WL

Publication Date: 2012

Variant appearance in text: rs1052248

PubMed Link: 22479352

Variant Present in the following documents:

• Main text
• pone.0032958.pdf

View BVdb publication page

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A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults.

Malaria Journal

Randall, Louise M LM; Kenangalem, Enny E; Lampah, Daniel A DA; Tjitra, Emiliana E; Mwaikambo, Esther D ED; Handojo, Tjandra T; Piera, Kim A KA; Zhao, Zhen Z ZZ; de Labastida Rivera, Fabian F; Zhou, Yonghong Y; McSweeney, Karli M KM; Le, Lien L; Amante, Fiona H FH; Haque, Ashraful A; Stanley, Amanda C AC; Woodberry, Tonia T; Salwati, Ervi E; Granger, Donald L DL; Hobbs, Maurine R MR; Price, Ric N RN; Weinberg, J Brice JB; Montgomery, Grant W GW; Anstey, Nicholas M NM; Engwerda, Christian R CR

Publication Date: 2010-10-29

Variant appearance in text: rs1052248

PubMed Link: 21029472

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel statistic for genome-wide interaction analysis.

Plos Genetics

Wu, Xuesen X; Dong, Hua H; Luo, Li L; Zhu, Yun Y; Peng, Gang G; Reveille, John D JD; Xiong, Momiao M

Publication Date: 2010-09-23

Variant appearance in text: rs1052248

PubMed Link: 20885795

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.

Nature Genetics

Thye, Thorsten T; Vannberg, Fredrik O FO; Wong, Sunny H SH; Owusu-Dabo, Ellis E; Osei, Ivy I; Gyapong, John J; Sirugo, Giorgio G; Sisay-Joof, Fatou F; Enimil, Anthony A; Chinbuah, Margaret A MA; Floyd, Sian S; Warndorff, David K DK; Sichali, Lifted L; Malema, Simon S; Crampin, Amelia C AC; Ngwira, Bagrey B; Teo, Yik Y YY; Small, Kerrin K; Rockett, Kirk K; Kwiatkowski, Dominic D; Fine, Paul E PE; Hill, Philip C PC; Newport, Melanie M; Lienhardt, Christian C; Adegbola, Richard A RA; Corrah, Tumani T; Ziegler, Andreas A; , ; , ; Morris, Andrew P AP; Meyer, Christian G CG; Horstmann, Rolf D RD; Hill, Adrian V S AVS

Publication Date: 2010-09

Variant appearance in text: rs1052248

PubMed Link: 20694014

Variant Present in the following documents:

• NIHMS31483-supplement-1.pdf

View BVdb publication page

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