Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1805352

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs1805352

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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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs1805352

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.pdf

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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: 280-46C>A; rs1805352

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: rs1805352

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: rs1805352

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: 280-46C>A; rs1805352

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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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: rs1805352

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs1805352

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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The Integration of Epistasis Network and Functional Interactions in a GWAS Implicates RXR Pathway Genes in the Immune Response to Smallpox Vaccine.

Plos One

McKinney, Brett A BA; Lareau, Caleb C; Oberg, Ann L AL; Kennedy, Richard B RB; Ovsyannikova, Inna G IG; Poland, Gregory A GA

Publication Date: 2016

Variant appearance in text: rs1805352

PubMed Link: 27513748

Variant Present in the following documents:

• Main text
• pone.0158016.pdf

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Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of BRCA1/BRCA2 mutations.

Oncology Letters

Mostowska, Adrianna A; Sajdak, Stefan S; Pawlik, Piotr P; Lianeri, Margarita M; Jagodzinski, Paweł P PP

Publication Date: 2016-02

Variant appearance in text: rs1805352

PubMed Link: 26893716

Variant Present in the following documents:

• Main text

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: rs1805352

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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"Let there be light": the role of vitamin D in the immune response to vaccines.

Expert Review Of Vaccines

Sadarangani, Sapna P SP; Whitaker, Jennifer A JA; Poland, Gregory A GA

Publication Date: 2015

Variant appearance in text: rs1805352

PubMed Link: 26325349

Variant Present in the following documents:

• Main text

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: rs1805352

PubMed Link: 24647074

Variant Present in the following documents:

• Main text
• nutrients-06-01145.pdf

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Surfing a genetic association interaction network to identify modulators of antibody response to smallpox vaccine.

Genes And Immunity

Davis, N A NA; Crowe, J E JE; Pajewski, N M NM; McKinney, B A BA

Publication Date: 2010-12

Variant appearance in text: rs1805352

PubMed Link: 20613780

Variant Present in the following documents:

• Main text
• gene201037a.pdf

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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: rs1805352

PubMed Link: 20145122

Variant Present in the following documents:

• Main text

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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: rs1805352

PubMed Link: 19374686

Variant Present in the following documents:

• Main text
• jcmm0013-0589.pdf

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Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.

Carcinogenesis

Lan, Qing Q; Zhang, Luoping L; Shen, Min M; Jo, William J WJ; Vermeulen, Roel R; Li, Guilan G; Vulpe, Christopher C; Lim, Sophia S; Ren, Xuefeng X; Rappaport, Stephen M SM; Berndt, Sonja I SI; Yeager, Meredith M; Yuenger, Jeff J; Hayes, Richard B RB; Linet, Martha M; Yin, Songnian S; Chanock, Stephen S; Smith, Martyn T MT; Rothman, Nathaniel N

Publication Date: 2009-01

Variant appearance in text: rs1805352

PubMed Link: 18978339

Variant Present in the following documents:

• Main text

View BVdb publication page

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