Publications:

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Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.

Bmj Open

Keathley, Justine J; Garneau, Véronique V; Marcil, Valérie V; Mutch, David M DM; Robitaille, Julie J; Rudkowska, Iwona I; Sofian, Gabriela Magdalena GM; Desroches, Sophie S; Vohl, Marie-Claude MC

Publication Date: 2022-02-22

Variant appearance in text: rs1805343

PubMed Link: 35193914

Variant Present in the following documents:

• bmjopen-2021-054417supp001.pdf
• bmjopen-2021-054417.draft_revisions.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: RXRA: 1242-27G>A; rs1805343

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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: RXRA: 1242-27G>A; rs1805343

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs1805343

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations.

Genes & Nutrition

Jones, Patrice P; Lucock, Mark M; Chaplin, George G; Jablonski, Nina G NG; Veysey, Martin M; Scarlett, Christopher C; Beckett, Emma E

Publication Date: 2020-03-13

Variant appearance in text: rs1805343

PubMed Link: 32169032

Variant Present in the following documents:

• Main text
• 12263_2020_Article_663.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: RXRA: 1242-27G>A; rs1805343

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Single-Nucleotide Polymorphisms in Vitamin D-Related Genes May Modify Vitamin D-Breast Cancer Associations.

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

O'Brien, Katie M KM; Sandler, Dale P DP; Kinyamu, H Karimi HK; Taylor, Jack A JA; Weinberg, Clarice R CR

Publication Date: 2017-12

Variant appearance in text: rs1805343

PubMed Link: 28830874

Variant Present in the following documents:

• Main text

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: rs1805343

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs1805343

PubMed Link: 28652652

Variant Present in the following documents:

• Main text
• WJG-23-3978.pdf

View BVdb publication page

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Genetic variants in vitamin D signaling pathways and risk of gestational diabetes mellitus.

Oncotarget

Shi, Aiwu A; Wen, Juan J; Liu, Guangquan G; Liu, Heng H; Fu, Ziyi Z; Zhou, Jing J; Zhu, Yao Y; Liu, Yaoqiu Y; Guo, Xirong X; Xu, Jianguo J

Publication Date: 2016-10-18

Variant appearance in text: rs1805343

PubMed Link: 27636996

Variant Present in the following documents:

• Main text
• oncotarget-07-67788.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: rs1805343

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1805343

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Patients with chronic three-vessel disease in a 15-year follow-up study: genetic and non-genetic predictors of survival.

Medicine

Máchal, Jan J; Pávková-Goldbergová, Monika M; Hlinomaz, Ota O; Groch, Ladislav L; Vašků, Anna A

Publication Date: 2014-12

Variant appearance in text: rs1805343

PubMed Link: 25526459

Variant Present in the following documents:

• Main text
• medi-93-e278.pdf

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs1805343

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Polymorphisms in genes involved in fatty acid β-oxidation interact with dietary fat intakes to modulate the plasma TG response to a fish oil supplementation.

Nutrients

Bouchard-Mercier, Annie A; Rudkowska, Iwona I; Lemieux, Simone S; Couture, Patrick P; Vohl, Marie-Claude MC

Publication Date: 2014-03-18

Variant appearance in text: rs1805343

PubMed Link: 24647074

Variant Present in the following documents:

• Main text
• nutrients-06-01145.pdf

View BVdb publication page

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Early life sun exposure, vitamin D-related gene variants, and risk of non-Hodgkin lymphoma.

Cancer Causes & Control : Ccc

Kelly, Jennifer L JL; Drake, Matthew T MT; Fredericksen, Zachary S ZS; Asmann, Yan W YW; Liebow, Mark M; Shanafelt, Tait D TD; Feldman, Andrew L AL; Ansell, Stephen M SM; Macon, William R WR; Herr, Megan M MM; Wang, Alice H AH; Nowakowski, Grzegorz S GS; Call, Timothy G TG; Habermann, Thomas M TM; Slager, Susan L SL; Witzig, Thomas E TE; Cerhan, James R JR

Publication Date: 2012-07

Variant appearance in text: rs1805343

PubMed Link: 22544453

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multigenic control of measles vaccine immunity mediated by polymorphisms in measles receptor, innate pathway, and cytokine genes.

Vaccine

Kennedy, Richard B RB; Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; O'Byrne, Megan M MM; Jacobson, Robert M RM; Pankratz, V Shane VS; Poland, Gregory A GA

Publication Date: 2012-03-09

Variant appearance in text: rs1805343

PubMed Link: 22265947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: rs1805343

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the retinoid X receptor and calcium-sensing receptor and risk of colorectal cancer in the Colon Cancer Family Registry.

Carcinogenesis

Jacobs, Elizabeth T ET; Martínez, Maria E ME; Campbell, Peter T PT; Conti, David V DV; Duggan, David D; Figueiredo, Jane C JC; Haile, Robert W RW; LeRoy, Elizabeth C EC; Poynter, Jenny N JN; Thompson, Patricia A PA; Baron, John A JA

Publication Date: 2010-08

Variant appearance in text: rs1805343

PubMed Link: 20558521

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in vitamin D receptor VDR/RXRA influence the likelihood of colon adenoma recurrence.

Cancer Research

Egan, Jan B JB; Thompson, Patricia A PA; Ashbeck, Erin L EL; Conti, David V DV; Duggan, David D; Hibler, Elizabeth E; Jurutka, Peter W PW; Leroy, Elizabeth C EC; Martínez, María Elena ME; Mount, David D; Jacobs, Elizabeth T ET

Publication Date: 2010-02-15

Variant appearance in text: rs1805343

PubMed Link: 20145122

Variant Present in the following documents:

• Main text

View BVdb publication page

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RXRA gene variations influence Alzheimer's disease risk and cholesterol metabolism.

Journal Of Cellular And Molecular Medicine

Kölsch, Heike H; Lütjohann, Dieter D; Jessen, Frank F; Popp, Julius J; Hentschel, Frank F; Kelemen, Peter P; Friedrichs, Silvia S; Maier, T A Wolfgang TA; Heun, Reinhard R

Publication Date: 2009-03

Variant appearance in text: rs1805343

PubMed Link: 19374686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphism of genes related to insulin sensitivity and the risk of biliary tract cancer and biliary stone: a population-based case-control study in Shanghai, China.

Carcinogenesis

Chang, Shih-Chen SC; Rashid, Asif A; Gao, Yu-Tang YT; Andreotti, Gabriella G; Shen, Ming-Chang MC; Wang, Bin-Sheng BS; Han, Tian-Quan TQ; Zhang, Bai-He BH; Sakoda, Lori C LC; Leitzmann, Michael F MF; Chen, Bingshu E BE; Rosenberg, Philip S PS; Chen, Jinbo J; Chanock, Stephen J SJ; Hsing, Ann W AW

Publication Date: 2008-05

Variant appearance in text: rs1805343

PubMed Link: 18375961

Variant Present in the following documents:

• Main text
• bgn025.pdf

View BVdb publication page

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