Publications:

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Polymorphisms in VDR, CYP27B1, CYP2R1, GC and CYP24A1 Genes as Biomarkers of Survival in Non-Small Cell Lung Cancer: A Systematic Review.

Nutrients

Pineda-Lancheros, Laura Elena LE; Gálvez-Navas, José María JM; Rojo-Tolosa, Susana S; Membrive-Jiménez, Cristina C; Valverde-Merino, María Isabel MI; Martínez-Martínez, Fernando F; Sánchez-Martín, Almudena A; Ramírez-Tortosa, MCarmen M; Pérez-Ramírez, Cristina C; Jiménez-Morales, Alberto A

Publication Date: 2023-03-21

Variant appearance in text: rs2296241

PubMed Link: 36986255

Variant Present in the following documents:

• Main text
• nutrients-15-01525.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: CYP24A1: A184A

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Association of CYP24A1 with survival and drug resistance in clinical cancer patients: a meta-analysis.

Bmc Cancer

Zeng, Rui R; Li, Hua H; Jia, Lingyan L; Lee, Sau Har SH; Jiang, Rilei R; Zhang, Yujia Y; Hu, Xudong X; Ye, Tingjie T; Wang, Xiaoling X; Yan, Xiaofeng X; Lu, Yanlin Y; Sun, Zhumei Z; Xu, Jiatuo J; Xu, Wei W

Publication Date: 2022-12-16

Variant appearance in text: rs2296241

PubMed Link: 36527000

Variant Present in the following documents:

• Main text
• 12885_2022_Article_10369.pdf

View BVdb publication page

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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: CYP24A1: A184A; rs2296241

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Vitamin D-Related Genes and Thyroid Cancer-A Systematic Review.

International Journal Of Molecular Sciences

Maciejewski, Adam A; Lacka, Katarzyna K

Publication Date: 2022-11-07

Variant appearance in text: rs2296241

PubMed Link: 36362448

Variant Present in the following documents:

• Main text
• ijms-23-13661.pdf

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: CYP24A1: A184A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Insights into the Pharmacogenetics of Tacrolimus Pharmacokinetics and Pharmacodynamics.

Pharmaceutics

Brunet, Mercè M; Pastor-Anglada, Marçal M

Publication Date: 2022-08-23

Variant appearance in text: rs2296241

PubMed Link: 36145503

Variant Present in the following documents:

• Main text
• pharmaceutics-14-01755.pdf

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: CYP24A1: A184A; rs2296241

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Vitamin D-Related Genetic Variations and Nonalcoholic Fatty Liver Disease: A Systematic Review.

International Journal Of Molecular Sciences

Jaroenlapnopparat, Aunchalee A; Suppakitjanusant, Pichatorn P; Ponvilawan, Ben B; Charoenngam, Nipith N

Publication Date: 2022-08-14

Variant appearance in text: rs2296241

PubMed Link: 36012386

Variant Present in the following documents:

• Main text
• ijms-23-09122.pdf

View BVdb publication page

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Safety Data in Patients with Autoimmune Diseases during Treatment with High Doses of Vitamin D3 According to the "Coimbra Protocol".

Nutrients

Amon, Ulrich U; Yaguboglu, Raul R; Ennis, Madeleine M; Holick, Michael F MF; Amon, Julian J

Publication Date: 2022-04-10

Variant appearance in text: rs2296241

PubMed Link: 35458137

Variant Present in the following documents:

• Main text
• nutrients-14-01575.pdf

View BVdb publication page

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Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer.

Frontiers In Oncology

Wang, Xue X; Zhao, Zihui Z; Han, Xueqing X; Zhang, Yutong Y; Zhang, Yitong Y; Li, Fenglan F; Li, Hui H

Publication Date: 2021

Variant appearance in text: rs2296241

PubMed Link: 34926308

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vitamin D Metabolic Pathway Genes Polymorphisms and Their Methylation Levels in Association With Rheumatoid Arthritis.

Frontiers In Immunology

Zhang, Tian-Ping TP; Li, Hong-Miao HM; Huang, Qian Q; Wang, Li L; Li, Xiao-Mei XM

Publication Date: 2021

Variant appearance in text: rs2296241

PubMed Link: 34925313

Variant Present in the following documents:

• Main text
• fimmu-12-731565.pdf

View BVdb publication page

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The Interplay of Vitamin D Deficiency and Cellular Senescence in The Pathogenesis of Obesity-Related Co-Morbidities.

Nutrients

Bima, Abdulhadi A; Eldakhakhny, Basmah B; Nuwaylati, Dina D; Alnami, Abrar A; Ajabnoor, Mohammed M; Elsamanoudy, Ayman A

Publication Date: 2021-11-17

Variant appearance in text: rs2296241

PubMed Link: 34836382

Variant Present in the following documents:

• Main text
• nutrients-13-04127.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: CYP24A1: A184A; rs2296241

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Genetic Polymorphism of Vitamin D Family Genes CYP2R1, CYP24A1, and CYP27B1 Are Associated With a High Risk of Non-alcoholic Fatty Liver Disease: A Case-Control Study.

Frontiers In Genetics

Wang, Minxian M; Zhang, Ru R; Wang, Min M; Zhang, Liuxin L; Ding, Yajie Y; Tang, Zongzhe Z; Wang, Hongliang H; Zhang, Wei W; Chen, Yue Y; Wang, Jie J

Publication Date: 2021

Variant appearance in text: rs2296241

PubMed Link: 34484304

Variant Present in the following documents:

• Main text
• fgene-12-717533.pdf

View BVdb publication page

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Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine

Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R

Publication Date: 2021-08-09

Variant appearance in text: CYP24A1: 552C>T; Ala184=; rs2296241

PubMed Link: 34291583

Variant Present in the following documents:

• EMMM-13-e12881-s010.xlsx, 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: CYP24A1: 552C>T; A184A; rs2296241

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association of vitamin D pathway genes polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.

Genes & Nutrition

Zhang, Tian-Ping TP; Chen, Shuang-Shuang SS; Zhang, Gen-You GY; Shi, Si-Jiu SJ; Wei, Li L; Li, Hong-Miao HM

Publication Date: 2021-04-21

Variant appearance in text: rs2296241

PubMed Link: 33882819

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diabetes and Cardiovascular Risk in Renal Transplant Patients.

International Journal Of Molecular Sciences

Rysz, Jacek J; Franczyk, Beata B; Radek, Maciej M; Ciałkowska-Rysz, Aleksandra A; Gluba-Brzózka, Anna A

Publication Date: 2021-03-26

Variant appearance in text: rs2296241

PubMed Link: 33810367

Variant Present in the following documents:

• Main text
• ijms-22-03422.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: CYP24A1: A184A; rs2296241

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CYP24A1: 552C>T; A184A; rs2296241

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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[Gene polymorphism in oral lichen planus].

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal Of Stomatology

Pan, Ying-Xiao YX; Guo, Da-Wei DW; Li, Xin X; Liu, Heng-Yi HY; Lu, Shu-Lai SL

Publication Date: 2020-12-01

Variant appearance in text: rs2296241

PubMed Link: 33377347

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP24A1 and KL polymorphisms are associated with the extent of vascular calcification but do not improve prediction of cardiovascular events.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Solache-Berrocal, Guillermo G; Rolle-Sóñora, Valeria V; Martín-Fernández, Noelia N; Cambray, Serafí S; Valdivielso, José Manuel JM; Rodríguez, Isabel I

Publication Date: 2021-11-09

Variant appearance in text: rs2296241

PubMed Link: 33219692

Variant Present in the following documents:

• Main text
• gfaa240.pdf

View BVdb publication page

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Association of vitamin D gene polymorphisms in children with asthma - A systematic review.

Heliyon

Ashok, Narmada N; Kirubakaran, Richard R; Saraswathy, Radha R

Publication Date: 2020-09

Variant appearance in text: rs2296241

PubMed Link: 32939414

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation.

Nutrients

Tomei, Sara S; Singh, Parul P; Mathew, Rebecca R; Mattei, Valentina V; Garand, Mathieu M; Alwakeel, Mariam M; Sharif, Elham E; Al Khodor, Souhaila S

Publication Date: 2020-08-27

Variant appearance in text: rs2296241

PubMed Link: 32867112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of CYP24A1 variants in coronary heart disease among the Chinese population.

Lipids In Health And Disease

Qian, Peng P; Cao, Xuanchao X; Xu, Xianjing X; Duan, Mingqin M; Zhang, Qian Q; Huang, Gairong G

Publication Date: 2020-08-06

Variant appearance in text: rs2296241

PubMed Link: 32762692

Variant Present in the following documents:

• Main text
• 12944_2020_Article_1356.pdf

View BVdb publication page

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Vitamin D in Type 2 Diabetes: Genetic Susceptibility and the Response to Supplementation.

Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme

Klahold, Edith E; Penna-Martinez, Marissa M; Bruns, Franziska F; Seidl, Christian C; Wicker, Sabine S; Badenhoop, Klaus K

Publication Date: 2020-07

Variant appearance in text: rs2296241

PubMed Link: 32542627

Variant Present in the following documents:

• Main text
• 10-1055-a-1157-0026.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2296241

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The association analysis between CYP24A1 genetic polymorphisms and the risk of ischemic stroke in Chinese Han population.

Brain And Behavior

Yang, Wei W; Ma, Fenghui F; Wang, Li L; He, Xue X; Zhang, Hengxun H; Zheng, Jianwen J; Wang, Yuhe Y; Jin, Tianbo T; Yuan, Dongya D; He, Yongjun Y

Publication Date: 2020-02

Variant appearance in text: rs2296241

PubMed Link: 31872978

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of genetic polymorphisms in Vitamin D metabolic pathway on Vitamin D level and asthma control in South Indian patients with bronchial asthma.

Lung India : Official Organ Of Indian Chest Society

Rajaram, Manju M; Selvarajan, Sandhiya S; Neelamegan, Revathy R; Kamalanathan, Sadishkumar S; Gunaseelan, Vikneswaran V; Xavier, Alphienes Stanley AS; Das, Saibal S; Karthikeyan, Vignesh V; Saka, Vinodkumar V; Chandrasekaran, Adithan A

Publication Date: 2019

Variant appearance in text: rs2296241

PubMed Link: 31670295

Variant Present in the following documents:

• Main text
• LI-36-483.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CYP24A1: 552C>T; Ala184=; rs2296241

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: CYP24A1: A184A; rs2296241

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.

Genes

Carvalho, Isabel S IS; Gonçalves, Catarina I CI; Almeida, Joana T JT; Azevedo, Teresa T; Martins, Teresa T; Rodrigues, Fernando J FJ; Lemos, Manuel C MC

Publication Date: 2019-07-28

Variant appearance in text: rs2296241

PubMed Link: 31357732

Variant Present in the following documents:

• Main text
• genes-10-00572.pdf

View BVdb publication page

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Gene polymorphism of cytochrome P450 significantly affects lung cancer susceptibility.

Cancer Medicine

Li, Meng M; Li, Anqi A; He, Ruiqing R; Dang, Wenhui W; Liu, Xinyu X; Yang, Tian T; Shi, Puyu P; Bu, Xiang X; Gao, Dan D; Zhang, Ning N; Du, Shuli S; Jin, Tianbo T; Chen, Mingwei M

Publication Date: 2019-08

Variant appearance in text: rs2296241

PubMed Link: 31264381

Variant Present in the following documents:

• Main text

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CYP24A1: 552C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Repurposing vitamin D for treatment of human malignancies via targeting tumor microenvironment.

Acta Pharmaceutica Sinica. B

Wu, Xu X; Hu, Wei W; Lu, Lan L; Zhao, Yueshui Y; Zhou, Yejiang Y; Xiao, Zhangang Z; Zhang, Lin L; Zhang, Hanyu H; Li, Xiaobing X; Li, Wanping W; Wang, Shengpeng S; Cho, Chi Hin CH; Shen, Jing J; Li, Mingxing M

Publication Date: 2019-03

Variant appearance in text: rs2296241

PubMed Link: 30972274

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2296241

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2296241

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.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: CYP24A1: 552C>T; rs2296241

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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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CYP24A1: 552C>T; A184A; rs2296241

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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A SNP panel and online tool for checking genotype concordance through comparing QR codes.

Plos One

Du, Yonghong Y; Martin, Joshua S JS; McGee, John J; Yang, Yuchen Y; Liu, Eric Yi EY; Sun, Yingrui Y; Geihs, Matthias M; Kong, Xuejun X; Zhou, Eric Lingfeng EL; Li, Yun Y; Huang, Jie J

Publication Date: 2017

Variant appearance in text: rs2296241

PubMed Link: 28926565

Variant Present in the following documents:

• Main text
• pone.0182438.pdf

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: rs2296241

PubMed Link: 28830874

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CYP24A1: A184A; rs2296241

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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Vitamin D and Cancer Risk and Mortality: State of the Science, Gaps, and Challenges.

Epidemiologic Reviews

Mondul, Alison M AM; Weinstein, Stephanie J SJ; Layne, Tracy M TM; Albanes, Demetrius D

Publication Date: 2017-01-01

Variant appearance in text: rs2296241

PubMed Link: 28486651

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition.

Genes

Penna-Martinez, Marissa M; Badenhoop, Klaus K

Publication Date: 2017-04-20

Variant appearance in text: rs2296241

PubMed Link: 28425954

Variant Present in the following documents:

• Main text

View BVdb publication page

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No prognostic value added by vitamin D pathway SNPs to current prognostic system for melanoma survival.

Plos One

Luo, Li L; Orlow, Irene I; Kanetsky, Peter A PA; Thomas, Nancy E NE; Fang, Shenying S; Lee, Jeffrey E JE; Berwick, Marianne M; Lee, Ji-Hyun JH; ,

Publication Date: 2017

Variant appearance in text: rs2296241

PubMed Link: 28323902

Variant Present in the following documents:

• Main text

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11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project.

Scientific Data

Cai, Na N; Bigdeli, Tim B TB; Kretzschmar, Warren W WW; Li, Yihan Y; Liang, Jieqin J; Hu, Jingchu J; Peterson, Roseann E RE; Bacanu, Silviu S; Webb, Bradley Todd BT; Riley, Brien B; Li, Qibin Q; Marchini, Jonathan J; Mott, Richard R; Kendler, Kenneth S KS; Flint, Jonathan J

Publication Date: 2017-02-14

Variant appearance in text: rs2296241

PubMed Link: 28195579

Variant Present in the following documents:

• sdata201711.pdf

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Vitamin D Receptor Genotype, Vitamin D3 Supplementation, and Risk of Colorectal Adenomas: A Randomized Clinical Trial.

Jama Oncology

Barry, Elizabeth L EL; Peacock, Janet L JL; Rees, Judy R JR; Bostick, Roberd M RM; Robertson, Douglas J DJ; Bresalier, Robert S RS; Baron, John A JA

Publication Date: 2017-05-01

Variant appearance in text: rs2296241

PubMed Link: 27978548

Variant Present in the following documents:

• Main text

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A role for the vitamin D pathway in non-intestinal lesions in genetic and carcinogen models of colorectal cancer and in familial adenomatous polyposis.

Oncotarget

Bong, Yong-Sik YS; Assefnia, Shahin S; Tuohy, Therese T; Neklason, Deborah W DW; Burt, Randall W RW; Ahn, Jaeil J; Bueno De Mesquita, Paul J PJ; Byers, Stephen W SW

Publication Date: 2016-12-06

Variant appearance in text: rs2296241

PubMed Link: 27768599

Variant Present in the following documents:

• Main text

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Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk.

International Journal Of Molecular Sciences

Wu, Xiayu X; Cheng, Jiaoni J; Yang, Kaiyun K

Publication Date: 2016-09-22

Variant appearance in text: rs2296241

PubMed Link: 27669215

Variant Present in the following documents:

• Main text

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