Publications:

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Identifying genetic variants for amyloid β in subcortical vascular cognitive impairment.

Frontiers In Aging Neuroscience

Kim, Hang-Rai HR; Jung, Sang-Hyuk SH; Kim, Beomsu B; Kim, Jaeho J; Jang, Hyemin H; Kim, Jun Pyo JP; Kim, So Yeon SY; Na, Duk L DL; Kim, Hee Jin HJ; Nho, Kwangsik K; Won, Hong-Hee HH; Seo, Sang Won SW

Publication Date: 2023

Variant appearance in text: rs405697

PubMed Link: 37143691

Variant Present in the following documents:

• fnagi-15-1160536.pdf

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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: rs405697

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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TOMM40 genetic variants associated with healthy aging and longevity: a systematic review.

Bmc Geriatrics

Chen, Sunny S; Sarasua, Sara M SM; Davis, Nicole J NJ; DeLuca, Jane M JM; Boccuto, Luigi L; Thielke, Stephen M SM; Yu, Chang-En CE

Publication Date: 2022-08-13

Variant appearance in text: rs405697

PubMed Link: 35964003

Variant Present in the following documents:

• Main text
• 12877_2022_Article_3337.pdf

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs405697

PubMed Link: 35802478

Variant Present in the following documents:

• Main text
• noac171.pdf

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Machine learning methods applied to genotyping data capture interactions between single nucleotide variants in late onset Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Arnal Segura, Magdalena M; Bini, Giorgio G; Fernandez Orth, Dietmar D; Samaras, Eleftherios E; Kassis, Maya M; Aisopos, Fotis F; Rambla De Argila, Jordi J; Paliouras, George G; Garrard, Peter P; Giambartolomei, Claudia C; Tartaglia, Gian Gaetano GG

Publication Date: 2022

Variant appearance in text: rs405697

PubMed Link: 35415203

Variant Present in the following documents:

• Main text
• DAD2-14-e12300.pdf

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Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review.

Frontiers In Nutrition

Pérez-Beltrán, Yolanda E YE; Rivera-Iñiguez, Ingrid I; Gonzalez-Becerra, Karina K; Pérez-Naitoh, Naomi N; Tovar, Juscelino J; Sáyago-Ayerdi, Sonia G SG; Mendivil, Edgar J EJ

Publication Date: 2022

Variant appearance in text: rs405697

PubMed Link: 35387194

Variant Present in the following documents:

• Main text
• fnut-09-830283.pdf

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: rs405697

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 1

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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: rs405697

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.

Molecular Genetics & Genomic Medicine

Soyal, Selma M SM; Kwik, Markus M; Kalev, Ognian O; Lenz, Stefan S; Zara, Greta G; Strasser, Peter P; Patsch, Wolfgang W; Weis, Serge S

Publication Date: 2020-08

Variant appearance in text: rs405697

PubMed Link: 32472747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-coding variability at the APOE locus contributes to the Alzheimer's risk.

Nature Communications

Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Kwok, Timothy C Y TCY; Mok, Vincent C T VCT; Guo, Qihao Q; Ip, Fanny C FC; Chen, Yuewen Y; Mullapudi, Nandita N; , ; Giusti-Rodríguez, Paola P; Sullivan, Patrick F PF; Hardy, John J; Fu, Amy K Y AKY; Li, Yun Y; Ip, Nancy Y NY

Publication Date: 2019-07-25

Variant appearance in text: rs405697

PubMed Link: 31346172

Variant Present in the following documents:

• 41467_2019_10945_MOESM1_ESM.pdf

View BVdb publication page

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A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study.

International Journal Of Geriatric Psychiatry

Driscoll, Ira I; Snively, Beverly M BM; Espeland, Mark A MA; Shumaker, Sally A SA; Rapp, Stephen R SR; Goveas, Joseph S JS; Casanova, Ramon L RL; Wactawski-Wende, Jean J; Manson, JoAnn E JE; Rossom, Rebecca R; Brooks, Janet J; Hernandez, Dena G DG; Singleton, Andrew B AB; Resnick, Susan M SM

Publication Date: 2019-05

Variant appearance in text: rs405697

PubMed Link: 30706571

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer's disease patients.

Oncotarget

Prendecki, Michal M; Florczak-Wyspianska, Jolanta J; Kowalska, Marta M; Ilkowski, Jan J; Grzelak, Teresa T; Bialas, Katarzyna K; Wiszniewska, Malgorzata M; Kozubski, Wojciech W; Dorszewska, Jolanta J

Publication Date: 2018-10-16

Variant appearance in text: rs405697

PubMed Link: 30443289

Variant Present in the following documents:

• Main text
• oncotarget-09-35207.pdf

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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: TOMM40: 946+124A>G; rs405697

PubMed Link: 30319441

Variant Present in the following documents:

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

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs405697

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic Risk for Age-Related Cognitive Impairment Does Not Predict Cognitive Performance in Middle Age.

Journal Of Alzheimer'S Disease : Jad

Korthauer, Laura E LE; Awe, Elizabeth E; Frahmand, Marijam M; Driscoll, Ira I

Publication Date: 2018

Variant appearance in text: rs405697

PubMed Link: 29865048

Variant Present in the following documents:

• Main text

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Association of apolipoprotein E gene polymorphisms with blood lipids and their interaction with dietary factors.

Lipids In Health And Disease

Shatwan, Israa M IM; Winther, Kristian Hillert KH; Ellahi, Basma B; Elwood, Peter P; Ben-Shlomo, Yoav Y; Givens, Ian I; Rayman, Margaret P MP; Lovegrove, Julie A JA; Vimaleswaran, Karani S KS

Publication Date: 2018-04-30

Variant appearance in text: rs405697

PubMed Link: 29712557

Variant Present in the following documents:

• Main text
• 12944_2018_Article_744.pdf

View BVdb publication page

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Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Zhao, Qianhua Q; Chen, Keliang K; Chen, Yuewen Y; Hardy, John J; Li, Yun Y; Fu, Amy K Y AKY; Guo, Qihao Q; Ip, Nancy Y NY; ,

Publication Date: 2018-02-20

Variant appearance in text: rs405697

PubMed Link: 29432188

Variant Present in the following documents:

• pnas.1715554115.sapp.pdf

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Apolipoprotein E gene polymorphism modifies fasting total cholesterol concentrations in response to replacement of dietary saturated with monounsaturated fatty acids in adults at moderate cardiovascular disease risk.

Lipids In Health And Disease

Shatwan, Israa M IM; Weech, Michelle M; Jackson, Kim G KG; Lovegrove, Julie A JA; Vimaleswaran, Karani S KS

Publication Date: 2017-11-23

Variant appearance in text: rs405697

PubMed Link: 29169396

Variant Present in the following documents:

• Main text

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Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis-a cross-sectional study in a Chinese population.

Aging

Yang, Fan F; Sun, Liang L; Zhu, Xiaoquan X; Han, Jing J; Zeng, Yi Y; Nie, Chao C; Yuan, Huiping H; Li, Xiaoling X; Shi, Xiaohong X; Yang, Yige Y; Hu, Caiyou C; Lv, Zeping Z; Huang, Zezhi Z; Zheng, Chenguang C; Liang, Siying S; Huang, Jin J; Wan, Gang G; Qi, Keyan K; Qin, Bin B; Cao, Suyan S; Zhao, Xin X; Zhang, Yongqiang Y; Yang, Ze Z

Publication Date: 2017-11-10

Variant appearance in text: rs405697

PubMed Link: 29129831

Variant Present in the following documents:

• aging-09-2316.pdf

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Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses.

Experimental Gerontology

Yashin, Anatoliy I AI; Fang, Fang F; Kovtun, Mikhail M; Wu, Deqing D; Duan, Matt M; Arbeev, Konstantin K; Akushevich, Igor I; Kulminski, Alexander A; Culminskaya, Irina I; Zhbannikov, Ilya I; Yashkin, Arseniy A; Stallard, Eric E; Ukraintseva, Svetlana S

Publication Date: 2018-07-01

Variant appearance in text: rs405697

PubMed Link: 29107063

Variant Present in the following documents:

• Main text

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A novel SCCA approach via truncated ℓ1-norm and truncated group lasso for brain imaging genetics.

Bioinformatics (Oxford, England)

Du, Lei L; Liu, Kefei K; Zhang, Tuo T; Yao, Xiaohui X; Yan, Jingwen J; Risacher, Shannon L SL; Han, Junwei J; Guo, Lei L; Saykin, Andrew J AJ; Shen, Li L; ,

Publication Date: 2018-01-15

Variant appearance in text: rs405697

PubMed Link: 28968815

Variant Present in the following documents:

• Main text

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Mining Outcome-relevant Brain Imaging Genetic Associations via Three-way Sparse Canonical Correlation Analysis in Alzheimer's Disease.

Scientific Reports

Hao, Xiaoke X; Li, Chanxiu C; Du, Lei L; Yao, Xiaohui X; Yan, Jingwen J; Risacher, Shannon L SL; Saykin, Andrew J AJ; Shen, Li L; Zhang, Daoqiang D; ,

Publication Date: 2017-03-14

Variant appearance in text: rs405697

PubMed Link: 28291242

Variant Present in the following documents:

• Main text
• srep44272.pdf

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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: rs405697

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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APOE polymorphisms and cognitive functions in patients with brain tumors.

Neurology

Correa, Denise D DD; Satagopan, Jaya J; Baser, Raymond E RE; Cheung, Kenneth K; Richards, Elizabeth E; Lin, Michael M; Karimi, Sasan S; Lyo, John J; DeAngelis, Lisa M LM; Orlow, Irene I

Publication Date: 2014-07-22

Variant appearance in text: rs405697

PubMed Link: 24944262

Variant Present in the following documents:

• Main text

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SNPit: a federated data integration system for the purpose of functional SNP annotation.

Computer Methods And Programs In Biomedicine

Shen, Terry H TH; Carlson, Christopher S CS; Tarczy-Hornoch, Peter P

Publication Date: 2009-08

Variant appearance in text: rs405697

PubMed Link: 19327864

Variant Present in the following documents:

• Main text

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