Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCA1: V825I

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: ABCA1: V825I; rs2066715

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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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: ABCA1: V825I

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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Gene-diet interactions and cardiovascular diseases: a systematic review of observational and clinical trials.

Bmc Cardiovascular Disorders

Roa-Díaz, Zayne M ZM; Teuscher, Julian J; Gamba, Magda M; Bundo, Marvin M; Grisotto, Giorgia G; Wehrli, Faina F; Gamboa, Edna E; Rojas, Lyda Z LZ; Gómez-Ochoa, Sergio A SA; Verhoog, Sanne S; Vargas, Manuel Frias MF; Minder, Beatrice B; Franco, Oscar H OH; Dehghan, Abbas A; Pazoki, Raha R; Marques-Vidal, Pedro P; Muka, Taulant T

Publication Date: 2022-08-20

Variant appearance in text: rs2066715

PubMed Link: 35987633

Variant Present in the following documents:

• Main text
• 12872_2022_Article_2808.pdf

View BVdb publication page

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Elucidating the Structural Features of ABCA1 in its Heterogeneous Membrane Environment.

Frontiers In Molecular Biosciences

Sunidhi, S S; Sacher, Sukriti S; Atul, ; Garg, Parth P; Ray, Arjun A

Publication Date: 2021

Variant appearance in text: ABCA1: V825I

PubMed Link: 35155567

Variant Present in the following documents:

• Main text
• fmolb-08-803078.pdf

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: ABCA1: 2473G>A; Val825Ile; rs2066715

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: ABCA1: 2473G>A; Val825Ile; rs2066715

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Common R219K Variant of ATP-Binding Cassette Transporter A1 Gene Alters Atherometabolic Traits in Pregnant Women With Gestational Diabetes Mellitus.

Frontiers In Endocrinology

Tang, Fangmei F; Guan, Linbo L; Liu, Xinghui X; Fan, Ping P; Zhou, Mi M; Wu, Yujie Y; Liu, Rui R; Liu, Yu Y; Liu, Sixu S; Li, Dehua D; Bai, Huai H

Publication Date: 2021

Variant appearance in text: ABCA1: V825I

PubMed Link: 34975757

Variant Present in the following documents:

• Main text
• fendo-12-782453.pdf

View BVdb publication page

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Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis.

Journal Of Personalized Medicine

Shim, Sun-Young SY; Yoon, Ha-Young HY; Yee, Jeong J; Han, Ji-Min JM; Gwak, Hye-Sun HS

Publication Date: 2021-09-03

Variant appearance in text: ABCA1: V825I

PubMed Link: 34575660

Variant Present in the following documents:

• jpm-11-00883.pdf

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs2066715

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 1

View BVdb publication page

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Use of Deep-Learning Genomics to Discriminate Healthy Individuals from Those with Alzheimer's Disease or Mild Cognitive Impairment.

Behavioural Neurology

Li, Lanlan L; Yang, Yeying Y; Zhang, Qi Q; Wang, Jiao J; Jiang, Jiehui J; Neuroimaging Initiative, Alzheimer's Disease AD

Publication Date: 2021

Variant appearance in text: rs2066715

PubMed Link: 34336000

Variant Present in the following documents:

• Main text
• BN2021-3359103.pdf

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: ABCA1: 2473G>A; V825I; rs2066715

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: ABCA1: V825I; rs2066715

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ABCA1: 2473G>A; V825I; rs2066715

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2066715

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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The impact of ATP-binding cassette transporters on metabolic diseases.

Nutrition & Metabolism

Ye, Zixiang Z; Lu, Yifei Y; Wu, Tao T

Publication Date: 2020

Variant appearance in text: ABCA1: V825I

PubMed Link: 32774439

Variant Present in the following documents:

• 12986_2020_Article_478.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: ABCA1: 2473G>A; V825I; rs2066715

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCA1: 2473G>A; Val825Ile

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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: ABCA1: 2473G>A; Val825Ile; rs2066715

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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Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One

Howard, Alicia D AD; Wang, Xiaochun X; Prasad, Megana M; Sahu, Avinash Das AD; Aniba, Radhouane R; Miller, Michael M; Hannenhalli, Sridhar S; Chang, Yen-Pei Christy YC

Publication Date: 2019

Variant appearance in text: ABCA1: V825I

PubMed Link: 31039173

Variant Present in the following documents:

• Main text
• pone.0215911.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Interaction between an ATP-Binding Cassette A1 (ABCA1) Variant and Egg Consumption for the Risk of Ischemic Stroke and Carotid Atherosclerosis: a Family-Based Study in the Chinese Population.

Journal Of Atherosclerosis And Thrombosis

Song, Jing J; Jiang, Xia X; Cao, Yaying Y; Juan, Juan J; Wu, Tao T; Hu, Yonghua Y

Publication Date: 2019-09-01

Variant appearance in text: rs2066715

PubMed Link: 30828007

Variant Present in the following documents:

• Main text
• jat-26-835.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: ABCA1: V825I

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: ABCA1: 2473G>A; Val825Ile; rs2066715

PubMed Link: 30563187

Variant Present in the following documents:

• jpm-08-00040-s001.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: ABCA1: V825I; rs2066715

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 and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research

Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ

Publication Date: 2018-12

Variant appearance in text: ABCA1: V825I

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

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: ABCA1: 2473G>A; V825I; rs2066715

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Accelerated Atherogenicity in Tangier Disease.

Journal Of Atherosclerosis And Thrombosis

Muratsu, Jun J; Koseki, Masahiro M; Masuda, Daisaku D; Yasuga, Yuji Y; Tomoyama, Satoki S; Ataka, Keiji K; Yagi, Yoshiki Y; Nakagawa, Atsushi A; Hamada, Hidehumi H; Fujita, Shigeki S; Hattori, Hiroaki H; Ohama, Tohru T; Nishida, Makoto M; Hiraoka, Hisatoyo H; Matsuzawa, Yuji Y; Yamashita, Shizuya S

Publication Date: 2018-10-01

Variant appearance in text: ABCA1: V825I

PubMed Link: 29563393

Variant Present in the following documents:

• Main text
• jat-25-1076.pdf

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: ABCA1: V825I; rs2066715

PubMed Link: 29221171

Variant Present in the following documents:

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

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: rs2066715

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.

Plos One

Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A

Publication Date: 2016

Variant appearance in text: rs2066715

PubMed Link: 27992526

Variant Present in the following documents:

• Main text
• pone.0168423.pdf

View BVdb publication page

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Effect of ATP-binding Cassette Transporter A1 (ABCA1) Gene Polymorphisms on Plasma Lipid Variables and Common Demographic Parameters in Greek Nurses.

The Open Cardiovascular Medicine Journal

Kolovou, Vana V; Marvaki, Apostolia A; Boutsikou, Maria M; Vasilopoulos, Georgios G; Degiannis, Dimitrios D; Marvaki, Christina C; Kolovou, Genovefa G

Publication Date: 2016

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 27990182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosis and treatment of high density lipoprotein deficiency.

Progress In Cardiovascular Diseases

Schaefer, Ernst J EJ; Anthanont, Pimjai P; Diffenderfer, Margaret R MR; Polisecki, Eliana E; Asztalos, Bela F BF

Publication Date: 2016

Variant appearance in text: ABCA1: V825I

PubMed Link: 27565770

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chromosome 9p21 and ABCA1 Genetic Variants and Their Interactions on Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population.

International Journal Of Molecular Sciences

Cao, Xiao-Li XL; Yin, Rui-Xing RX; Huang, Feng F; Wu, Jin-Zhen JZ; Chen, Wu-Xian WX

Publication Date: 2016-04-18

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 27096864

Variant Present in the following documents:

• Main text
• ijms-17-00586.pdf

View BVdb publication page

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The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians.

Human Genomics

Cyrus, Cyril C; Vatte, Chittibabu C; Al-Nafie, Awatif A; Chathoth, Shahanas S; Al-Ali, Rudaynah R; Al-Shehri, Abdullah A; Akhtar, Mohammed Shakil MS; Almansori, Mohammed M; Al-Muhanna, Fahad F; Keating, Brendan B; Al-Ali, Amein A

Publication Date: 2016-03-02

Variant appearance in text: ABCA1: 2473G>A; V825I; rs2066715

PubMed Link: 26936456

Variant Present in the following documents:

• Main text
• 40246_2016_Article_65.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2066715

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA1: V825I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: ABCA1: V825I

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol

Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A

Publication Date: 2014

Variant appearance in text: ABCA1: V825I

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs2066715

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics

Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB

Publication Date: 2014-01

Variant appearance in text: rs2066715

PubMed Link: 24497850

Variant Present in the following documents:

• Main text

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Influence of ATP-binding cassette transporter 1 R219K and M883I polymorphisms on development of atherosclerosis: a meta-analysis of 58 studies.

Plos One

Yin, Yan-Wei YW; Li, Jing-Cheng JC; Gao, Dong D; Chen, Yan-Xiu YX; Li, Bing-Hu BH; Wang, Jing-Zhou JZ; Liu, Yun Y; Liao, Shao-Qiong SQ; Zhang, Ming-Jie MJ; Gao, Chang-Yue CY; Zhang, Li-Li LL

Publication Date: 2014

Variant appearance in text: ABCA1: V825I

PubMed Link: 24466114

Variant Present in the following documents:

• Main text

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Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.

Plos One

Nakamura, Akihiko A; Niimura, Hideshi H; Kuwabara, Kazuyo K; Takezaki, Toshiro T; Morita, Emi E; Wakai, Kenji K; Hamajima, Nobuyuki N; Nishida, Yuichiro Y; Turin, Tanvir Chowdhury TC; Suzuki, Sadao S; Ohnaka, Keizo K; Uemura, Hirokazu H; Ozaki, Etsuko E; Hosono, Satoyo S; Mikami, Haruo H; Kubo, Michiaki M; Tanaka, Hideo H

Publication Date: 2013

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 24376512

Variant Present in the following documents:

• Main text
• pone.0082046.pdf

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics

Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL

Publication Date: 2013-03

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 23555291

Variant Present in the following documents:

• Main text

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The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.

Plos One

Villarreal-Molina, Teresa T; Posadas-Romero, Carlos C; Romero-Hidalgo, Sandra S; Antúnez-Argüelles, Erika E; Bautista-Grande, Araceli A; Vargas-Alarcón, Gilberto G; Kimura-Hayama, Eric E; Canizales-Quinteros, Samuel S; Juárez-Rojas, Juan Gabriel JG; Posadas-Sánchez, Rosalinda R; Cardoso-Saldaña, Guillermo G; Medina-Urrutia, Aída A; González-Salazar, María Del Carmen Mdel C; Martínez-Alvarado, Rocío R; Jorge-Galarza, Esteban E; Carnevale, Alessandra A

Publication Date: 2012

Variant appearance in text: ABCA1: V825I

PubMed Link: 23152888

Variant Present in the following documents:

• Main text
• pone.0049285.pdf

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Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.

International Journal Of Molecular Sciences

Yin, Rui-Xing RX; Wu, Dong-Feng DF; Aung, Lynn Htet Htet LH; Yan, Ting-Ting TT; Cao, Xiao-Li XL; Long, Xing-Jiang XJ; Miao, Lin L; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M

Publication Date: 2012

Variant appearance in text: rs2066715

PubMed Link: 23109900

Variant Present in the following documents:

• Main text

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Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.

International Journal Of Molecular Sciences

Yin, Rui-Xing RX; Wu, Dong-Feng DF; Aung, Lynn Htet Htet LHH; Yan, Ting-Ting TT; Cao, Xiao-Li XL; Long, Xing-Jiang XJ; Miao, Lin L; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M

Publication Date: 2012

Variant appearance in text: rs2066715

PubMed Link: 23109900

Variant Present in the following documents:

• Main text

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Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels.

Cardiovascular Diabetology

Yin, Rui-Xing RX; Wu, Dong-Feng DF; Miao, Lin L; Aung, Lynn Htet Htet LH; Cao, Xiao-Li XL; Yan, Ting-Ting TT; Long, Xing-Jiang XJ; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M

Publication Date: 2012-10-08

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 23039238

Variant Present in the following documents:

• Main text

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Interactions of several lipid-related gene polymorphisms and cigarette smoking on blood pressure levels.

International Journal Of Biological Sciences

Yin, Rui-Xing RX; Wu, Dong-Feng DF; Wu, Jin-Zhen JZ; Cao, Xiao-Li XL; Aung, Lynn Htet Htet LH; Miao, Lin L; Long, Xing-Jiang XJ; Liu, Wan-Ying WY; Zhang, Lin L; Li, Meng M

Publication Date: 2012

Variant appearance in text: rs2066715

PubMed Link: 22606049

Variant Present in the following documents:

• Main text
• ijbsv08p0685.pdf

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Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology

Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,

Publication Date: 2011

Variant appearance in text: ABCA1: Val825Ile; rs2066715

PubMed Link: 21467728

Variant Present in the following documents:

• Main text

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Genetic variant of V825I in the ATP-binding cassette transporter A1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Lipids In Health And Disease

Cao, Xiao-Li XL; Yin, Rui-Xing RX; Wu, Dong-Feng DF; Miao, Lin L; Aung, Lynn Htet Htet LH; Hu, Xi-Jiang XJ; Li, Qing Q; Yan, Ting-Ting TT; Lin, Wei-Xiong WX; Pan, Shang-Ling SL

Publication Date: 2011-01-19

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 21247457

Variant Present in the following documents:

• Main text
• 1476-511X-10-14.pdf

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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology

Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F

Publication Date: 2009-03

Variant appearance in text: ABCA1: V825I; rs2066715

PubMed Link: 19041386

Variant Present in the following documents:

• Main text

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