Publications:

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Impact of pharmacogenetics on aspirin resistance: a systematic review.

Arquivos De Neuro-Psiquiatria

Silva, Gustavo Figueiredo da GFD; Lopes, Bruno Mattei BM; Moser, Vinicius V; Ferreira, Leslie Ecker LE

Publication Date: 2023-01

Variant appearance in text: rs5742904

PubMed Link: 36918009

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1758445.pdf

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: rs5742904

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APOB: 10580G>T; Arg3527Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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New Genetically Determined Markers of the Functional State of the Cardiovascular System.

Genes

Kondakova, Elena V EV; Ilina, Valeria M VM; Ermakova, Lyubov M LM; Krivonosov, Mikhail I MI; Kuchin, Kirill V KV; Vedunova, Maria V MV

Publication Date: 2023-01-10

Variant appearance in text: rs5742904

PubMed Link: 36672926

Variant Present in the following documents:

• Main text
• genes-14-00185.pdf

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Genetic Markers for Thrombophilia and Cardiovascular Disease Associated with Multiple Sclerosis.

Biomedicines

Hadjiagapiou, Maria S MS; Krashias, George G; Deeba, Elie E; Kallis, George G; Papaloizou, Andri A; Costeas, Paul P; Christodoulou, Christina C; Pantzaris, Marios M; Lambrianides, Anastasia A

Publication Date: 2022-10-21

Variant appearance in text: rs5742904

PubMed Link: 36289926

Variant Present in the following documents:

• biomedicines-10-02665.pdf

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: APOB: Arg3527Leu

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

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Bioarchaeological evidence of one of the earliest Islamic burials in the Levant.

Communications Biology

Srigyan, Megha M; Bolívar, Héctor H; Ureña, Irene I; Santana, Jonathan J; Petersen, Andrew A; Iriarte, Eneko E; Kırdök, Emrah E; Bergfeldt, Nora N; Mora, Alice A; Jakobsson, Mattias M; Abdo, Khaled K; Braemer, Frank F; Smith, Colin C; Ibañez, Juan José JJ; Götherström, Anders A; Günther, Torsten T; Valdiosera, Cristina C

Publication Date: 2022-06-07

Variant appearance in text: rs5742904

PubMed Link: 35672445

Variant Present in the following documents:

• 42003_2022_3508_MOESM1_ESM.pdf

View BVdb publication page

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Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters.

Frontiers In Genetics

Todorovova, Veronika V; Altschmiedova, Tereza T; Vrablik, Michal M; Ceska, Richard R

Publication Date: 2022

Variant appearance in text: APOB: R3527L

PubMed Link: 35295947

Variant Present in the following documents:

• Main text
• fgene-13-849008.pdf

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Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.

Pharmaceuticals (Basel, Switzerland)

Roberto, Michela M; Rossi, Alessandro A; Panebianco, Martina M; Pomes, Leda Marina LM; Arrivi, Giulia G; Ierinò, Debora D; Simmaco, Maurizio M; Marchetti, Paolo P; Mazzuca, Federica F

Publication Date: 2021-01-15

Variant appearance in text: rs5742904

PubMed Link: 33467633

Variant Present in the following documents:

• pharmaceuticals-14-00067-s001.pdf

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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports

Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS

Publication Date: 2021-01

Variant appearance in text: APOB: 10580G>T; Arg3527Leu; rs5742904

PubMed Link: 33269076

Variant Present in the following documents:

• Main text
• br-14-01-01391.pdf
• Supplementary_Data.pdf

View BVdb publication page

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs5742904

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study.

Bmc Cardiovascular Disorders

Fawzy, Manal S MS; Toraih, Eman A EA; Aly, Nagwa M NM; Fakhr-Eldeen, Abeer A; Badran, Dahlia I DI; Hussein, Mohammad H MH

Publication Date: 2017-01-13

Variant appearance in text: rs5742904

PubMed Link: 28086795

Variant Present in the following documents:

• Main text
• 12872_2016_Article_456.pdf

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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics

Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P

Publication Date: 2016-09-15

Variant appearance in text: rs5742904

PubMed Link: 27466198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in NOS3, MTHFR, APOB and TNF-α Genes and Risk of Coronary Atherosclerotic Lesions in Iranian Patients.

Research In Cardiovascular Medicine

Heidari, Mohammad Mehdi MM; Khatami, Mehri M; Hadadzadeh, Mehdi M; Kazemi, Mahbobeh M; Mahamed, Sahar S; Malekzadeh, Pegah P; Mirjalili, Massomeh M

Publication Date: 2016-02

Variant appearance in text: rs5742904

PubMed Link: 26878010

Variant Present in the following documents:

• Main text
• cardiovascmed-05-01-29134.pdf

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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: rs5742904

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Meta-analysis of gene-level tests for rare variant association.

Nature Genetics

Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR

Publication Date: 2014-02

Variant appearance in text: rs5742904

PubMed Link: 24336170

Variant Present in the following documents:

• NIHMS543085-supplement-1.pdf

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Decreased bone mineral density in subjects carrying familial defective apolipoprotein B-100.

The Journal Of Clinical Endocrinology And Metabolism

Yerges-Armstrong, Laura M LM; Shen, Haiqing H; Ryan, Kathleen A KA; Streeten, Elizabeth A EA; Shuldiner, Alan R AR; Mitchell, Braxton D BD

Publication Date: 2013-12

Variant appearance in text: rs5742904

PubMed Link: 24106285

Variant Present in the following documents:

• Main text

View BVdb publication page

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: rs5742904

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

View BVdb publication page

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Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One

Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ

Publication Date: 2012

Variant appearance in text: rs5742904

PubMed Link: 22629316

Variant Present in the following documents:

• Main text
• pone.0036473.pdf

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: rs5742904

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.

Archives Of Internal Medicine

Shen, Haiqing H; Damcott, Coleen M CM; Rampersaud, Evadnie E; Pollin, Toni I TI; Horenstein, Richard B RB; McArdle, Patrick F PF; Peyser, Patricia A PA; Bielak, Lawrence F LF; Post, Wendy S WS; Chang, Yen-Pei C YP; Ryan, Kathleen A KA; Miller, Michael M; Rumberger, John A JA; Sheedy, Patrick F PF; Shelton, John J; O'Connell, Jeffrey R JR; Shuldiner, Alan R AR; Mitchell, Braxton D BD

Publication Date: 2010-11-08

Variant appearance in text: rs5742904

PubMed Link: 21059979

Variant Present in the following documents:

• Main text

View BVdb publication page

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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke

Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,

Publication Date: 2009-03

Variant appearance in text: rs5742904

PubMed Link: 19131662

Variant Present in the following documents:

• Main text

View BVdb publication page

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