Publications:

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The Effectiveness of L-arginine in Clinical Conditions Associated with Hypoxia.

International Journal Of Molecular Sciences

Kurhaluk, Natalia N

Publication Date: 2023-05-03

Variant appearance in text: APOC3: R19X

PubMed Link: 37175912

Variant Present in the following documents:

• Main text
• ijms-24-08205.pdf

View BVdb publication page

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Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish.

Bmc Genomics

Lynch, Megan T MT; Maloney, Kristin A KA; Xu, Huichun H; Perry, James A JA; Center, Regeneron Genetics RG; Shuldiner, Alan R AR; Mitchell, Braxton D BD

Publication Date: 2023-03-20

Variant appearance in text: APOC3: Arg19Ter

PubMed Link: 36941539

Variant Present in the following documents:

• Main text
• 12864_2023_Article_9208.pdf

View BVdb publication page

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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: APOC3: 55C>T; Arg19Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Oman Genome Project is the Future of Using Genomics as the Determinant of Health and Disease in the Society.

Oman Medical Journal

Al-Maawali, Almundher A

Publication Date: 2022-11

Variant appearance in text: rs76353203

PubMed Link: 36531288

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing.

Circulation. Genomic And Precision Medicine

Saad, Mohamad M; El-Menyar, Ayman A; Kunji, Khalid K; Ullah, Ehsan E; Al Suwaidi, Jassim J; Kullo, Iftikhar J IJ

Publication Date: 2022-10-12

Variant appearance in text: rs76353203

PubMed Link: 36252120

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: APOC3: 55C>T; R19X; rs76353203

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: APOC3: 55C>T

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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An Amish founder population reveals rare-population genetic determinants of the human lipidome.

Communications Biology

Montasser, May E ME; Aslibekyan, Stella S; Srinivasasainagendra, Vinodh V; Tiwari, Hemant K HK; Patki, Amit A; Bagheri, Minoo M; Kind, Tobias T; Barupal, Dinesh Kumar DK; Fan, Sili S; Perry, James J; Ryan, Kathleen A KA; Shuldiner, Alan R AR; Arnett, Donna K DK; Beitelshees, Amber L AL; Irvin, Marguerite Ryan MR; O'Connell, Jeffrey R JR

Publication Date: 2022-04-07

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 35393526

Variant Present in the following documents:

• 42003_2022_3291_MOESM1_ESM.pdf

View BVdb publication page

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A Tale of Two New Targets for Hypertriglyceridaemia: Which Choice of Therapy?

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals And Gene Therapy

Ward, Natalie C NC; Chan, Dick C DC; Watts, Gerald F GF

Publication Date: 2022-03

Variant appearance in text: APOC3: R19X

PubMed Link: 35286660

Variant Present in the following documents:

• Main text
• 40259_2022_Article_520.pdf

View BVdb publication page

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Targeting ApoC3 Paradoxically Aggravates Atherosclerosis in Hamsters With Severe Refractory Hypercholesterolemia.

Frontiers In Cardiovascular Medicine

Xu, Yitong Y; Guo, Jiabao J; Zhang, Ling L; Miao, Guolin G; Lai, Pingping P; Zhang, Wenxi W; Liu, Lili L; Hou, Xinlin X; Wang, Yuhui Y; Huang, Wei W; Liu, George G; Gao, Mingming M; Xian, Xunde X

Publication Date: 2022

Variant appearance in text: rs76353203

PubMed Link: 35187136

Variant Present in the following documents:

• Main text
• fcvm-09-840358.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.

Lipids In Health And Disease

Goyal, Shiwali S; Tanigawa, Yosuke Y; Zhang, Weihua W; Chai, Jin-Fang JF; Almeida, Marcio M; Sim, Xueling X; Lerner, Megan M; Chainakul, Juliane J; Ramiu, Jonathan Garcia JG; Seraphin, Chanel C; Apple, Blair B; Vaughan, April A; Muniu, James J; Peralta, Juan J; Lehman, Donna M DM; Ralhan, Sarju S; Wander, Gurpreet S GS; Singh, Jai Rup JR; Mehra, Narinder K NK; Sidorov, Evgeny E; Peyton, Marvin D MD; Blackett, Piers R PR; Curran, Joanne E JE; Tai, E Shyong ES; van Dam, Rob R; Cheng, Ching-Yu CY; Duggirala, Ravindranath R; Blangero, John J; Chambers, John C JC; Sabanayagam, Charumathi C; Kooner, Jaspal S JS; Rivas, Manuel A MA; Aston, Christopher E CE; Sanghera, Dharambir K DK

Publication Date: 2021-09-21

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 34548093

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1531.pdf

View BVdb publication page

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Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.

Frontiers In Genetics

Read, Robert W RW; Schlauch, Karen A KA; Lombardi, Vincent C VC; Cirulli, Elizabeth T ET; Washington, Nicole L NL; Lu, James T JT; Grzymski, Joseph J JJ

Publication Date: 2021

Variant appearance in text: APOC3: R19X

PubMed Link: 33763119

Variant Present in the following documents:

• Main text
• fgene-12-639418.pdf

View BVdb publication page

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The GGLEAM Study: Understanding Glaucoma in the Ohio Amish.

International Journal Of Environmental Research And Public Health

Waksmunski, Andrea R AR; Song, Yeunjoo E YE; Kinzy, Tyler G TG; Laux, Reneé A RA; Sewell, Jane J; Fuzzell, Denise D; Fuzzell, Sarada S; Miller, Sherri S; Wiggs, Janey L JL; Pasquale, Louis R LR; Skarie, Jonathan M JM; Haines, Jonathan L JL; Cooke Bailey, Jessica N JN

Publication Date: 2021-02-06

Variant appearance in text: APOC3: R19X

PubMed Link: 33561996

Variant Present in the following documents:

• ijerph-18-01551.pdf

View BVdb publication page

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Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.

Bmc Medical Genomics

Rosenthal, Elisabeth A EA; Crosslin, David R DR; Gordon, Adam S AS; Carrell, David S DS; Stanaway, Ian B IB; Larson, Eric B EB; Grafton, Jane J; Wei, Wei-Qi WQ; Denny, Joshua C JC; Feng, Qi-Ping QP; Shah, Amy S AS; Sturm, Amy C AC; Ritchie, Marylyn D MD; Pacheco, Jennifer A JA; Hakonarson, Hakon H; Rasmussen-Torvik, Laura J LJ; Connolly, John J JJ; Fan, Xiao X; Safarova, Maya M; Kullo, Iftikhar J IJ; Jarvik, Gail P GP

Publication Date: 2021-01-06

Variant appearance in text: rs76353203

PubMed Link: 33407432

Variant Present in the following documents:

• Main text

View BVdb publication page

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Apolipoprotein C-III and cardiovascular diseases: when genetics meet molecular pathologies.

Molecular Biology Reports

Dib, Israa I; Khalil, Alia A; Chouaib, Racha R; El-Makhour, Yolla Y; Noureddine, Hiba H

Publication Date: 2021-01

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 33389539

Variant Present in the following documents:

• Main text

View BVdb publication page

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Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Martin, George M GM; Hisama, Fuki M FM; Oshima, Junko J

Publication Date: 2021-01-18

Variant appearance in text: APOC3: Arg19X

PubMed Link: 33295962

Variant Present in the following documents:

• Main text

View BVdb publication page

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APOC3 rs2070667 Associates with Serum Triglyceride Profile and Hepatic Inflammation in Nonalcoholic Fatty Liver Disease.

Biomed Research International

Xu, Qing-Yang QY; Li, Han H; Cao, Hai-Xia HX; Pan, Qin Q; Fan, Jian-Gao JG

Publication Date: 2020

Variant appearance in text: APOC3: R19X

PubMed Link: 33294458

Variant Present in the following documents:

• Main text
• BMRI2020-8869674.pdf

View BVdb publication page

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The Roles of ApoC-III on the Metabolism of Triglyceride-Rich Lipoproteins in Humans.

Frontiers In Endocrinology

Borén, Jan J; Packard, Chris J CJ; Taskinen, Marja-Riitta MR

Publication Date: 2020

Variant appearance in text: APOC3: R19X

PubMed Link: 32849270

Variant Present in the following documents:

• Main text
• fendo-11-00474.pdf

View BVdb publication page

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Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.

Circulation Research

Fernández-Rhodes, Lindsay L; Young, Kristin L KL; Lilly, Adam G AG; Raffield, Laura M LM; Highland, Heather M HM; Wojcik, Genevieve L GL; Agler, Cary C; Love, Shelly-Ann M SM; Okello, Samson S; Petty, Lauren E LE; Graff, Mariaelisa M; Below, Jennifer E JE; Divaris, Kimon K; North, Kari E KE

Publication Date: 2020-06-05

Variant appearance in text: APOC3: Arg19Ter; rs76353203

PubMed Link: 32496918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Global Heart

Alnouri, Fahad F; Al-Allaf, Faisal A FA; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Alabdullah, Moheeb M; Alammari, Dalal D; Alanazi, Menwar M; Alkaf, Fahmi F; Allehyani, Abeer A; Alotaiby, Mohammad A MA; Alshehri, Abdullah A; Bouazzaoui, Abdellatif A; Karrar, Hussam H; Taher, Mohiuddin M MM

Publication Date: 2020-02-28

Variant appearance in text: APOC3: 55C>T; R19*; rs76353203

PubMed Link: 32489792

Variant Present in the following documents:

• Main text
• gh-15-1-759.pdf

View BVdb publication page

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Quantile-dependent expressivity of postprandial lipemia.

Plos One

Williams, Paul T PT

Publication Date: 2020

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 32101585

Variant Present in the following documents:

• Main text
• pone.0229495.pdf

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: APOC3: 55C>T; Arg19Ter

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.

Lipids In Health And Disease

Malalla, Zainab H ZH; Al-Serri, Ahmad E AE; AlAskar, Huda M HM; Al-Kandari, Wafaa Y WY; Al-Bustan, Suzanne A SA

Publication Date: 2019-12-19

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 31856839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease.

Lipids In Health And Disease

Dai, Wen W; Zhang, Ziyu Z; Yao, Chun C; Zhao, Shuiping S

Publication Date: 2019-12-13

Variant appearance in text: APOC3: R19X

PubMed Link: 31836003

Variant Present in the following documents:

• Main text

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: APOC3: 55C>T; Arg19Ter; rs76353203

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs76353203

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

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The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data.

Bmc Cancer

Fernández-Navarro, Pablo P; López-Nieva, Pilar P; Piñeiro-Yañez, Elena E; Carreño-Tarragona, Gonzalo G; Martinez-López, Joaquín J; Sánchez Pérez, Raúl R; Aroca, Ángel Á; Al-Shahrour, Fátima F; Cobos-Fernández, María Ángeles MÁ; Fernández-Piqueras, José J

Publication Date: 2019-10-26

Variant appearance in text: APOC3: 55C>T; Arg19Ter; rs76353203

PubMed Link: 31655559

Variant Present in the following documents:

• 12885_2019_6209_MOESM10_ESM.xls, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: APOC3: 55C>T; Arg19*; rs76353203

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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2018 George Lyman Duff Memorial Lecture: Genetics and Genomics of Coronary Artery Disease: A Decade of Progress.

Arteriosclerosis, Thrombosis, And Vascular Biology

McPherson, Ruth R

Publication Date: 2019-10

Variant appearance in text: APOC3: R19X

PubMed Link: 31462092

Variant Present in the following documents:

• Main text
• atv-39-1925.pdf

View BVdb publication page

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Life is complicated: so is apoCIII.

Journal Of Lipid Research

Reyes-Soffer, Gissette G; Ginsberg, Henry N HN

Publication Date: 2019-08

Variant appearance in text: APOC3: R19X

PubMed Link: 31239286

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Molecular Genetics & Genomic Medicine

Akdeniz, Demet D; Tuncer, Seref Bugra SB; Kebudi, Rejin R; Celik, Betul B; Kuru, Gozde G; Kilic, Seda S; Sukruoglu Erdogan, Ozge O; Avsar, Mukaddes M; Buyukkapu Bay, Sema S; Tuncer, Samuray S; Yazici, Hulya H

Publication Date: 2019-08

Variant appearance in text: APOC3: Arg19Ter; rs76353203

PubMed Link: 31207142

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging Evidence that ApoC-III Inhibitors Provide Novel Options to Reduce the Residual CVD.

Current Atherosclerosis Reports

Taskinen, Marja-Riitta MR; Packard, Chris J CJ; Borén, Jan J

Publication Date: 2019-05-20

Variant appearance in text: APOC3: R19X

PubMed Link: 31111320

Variant Present in the following documents:

• Main text
• 11883_2019_Article_791.pdf

View BVdb publication page

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Apolipoprotein profiling as a personalized approach to the diagnosis and treatment of dyslipidaemia.

Annals Of Clinical Biochemistry

Renee Ruhaak, L L; van der Laarse, Arnoud A; Cobbaert, Christa M CM

Publication Date: 2019-05

Variant appearance in text: APOC3: R19X

PubMed Link: 30889974

Variant Present in the following documents:

• Main text
• 10.1177_0004563219827620.pdf

View BVdb publication page

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Effects of APOC3 Heterozygous Deficiency on Plasma Lipid and Lipoprotein Metabolism.

Arteriosclerosis, Thrombosis, And Vascular Biology

Reyes-Soffer, Gissette G; Sztalryd, Carol C; Horenstein, Richard B RB; Holleran, Stephen S; Matveyenko, Anastasiya A; Thomas, Tiffany T; Nandakumar, Renu R; Ngai, Colleen C; Karmally, Wahida W; Ginsberg, Henry N HN; Ramakrishnan, Rajasekhar R; Pollin, Toni I TI

Publication Date: 2019-01

Variant appearance in text: APOC3: 55C>T

PubMed Link: 30580564

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased usual physical activity is associated with a blunting of the triglyceride response to a high-fat meal.

Journal Of Clinical Lipidology

Mitchell, Braxton D BD; Kalra, Gurmannat G; Ryan, Kathleen A KA; Zhang, Man M; Sztalryd, Carole C; Steinle, Nanette I NI; Taylor, Simeon I SI; Snitker, Soren S; Lewis, Joshua P JP; Miller, Michael M; Shuldiner, Alan R AR; Xu, Huichun H

Publication Date: 2019

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 30553757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.

Nature Communications

Gilly, Arthur A; Suveges, Daniel D; Kuchenbaecker, Karoline K; Pollard, Martin M; Southam, Lorraine L; Hatzikotoulas, Konstantinos K; Farmaki, Aliki-Eleni AE; Bjornland, Thea T; Waples, Ryan R; Appel, Emil V R EVR; Casalone, Elisabetta E; Melloni, Giorgio G; Kilian, Britt B; Rayner, Nigel W NW; Ntalla, Ioanna I; Kundu, Kousik K; Walter, Klaudia K; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Tsafantakis, Emmanouil E; Dedoussis, George G; Moltke, Ida I; Zeggini, Eleftheria E

Publication Date: 2018-11-07

Variant appearance in text: rs76353203

PubMed Link: 30405126

Variant Present in the following documents:

• Main text
• 41467_2018_Article_7070.pdf

View BVdb publication page

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Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Translational Psychiatry

Kember, Rachel L RL; Hou, Liping L; Ji, Xiao X; Andersen, Lars H LH; Ghorai, Arpita A; Estrella, Lisa N LN; Almasy, Laura L; McMahon, Francis J FJ; Brown, Christopher C; Bućan, Maja M

Publication Date: 2018-10-12

Variant appearance in text: APOC3: Arg19Ter; rs76353203

PubMed Link: 30315151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

Bmc Medical Genomics

Crawford, Dana C DC; Restrepo, Nicole A NA; Diggins, Kirsten E KE; Farber-Eger, Eric E; Wells, Quinn S QS

Publication Date: 2018-09-14

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 30255797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 30076208

Variant Present in the following documents:

• Main text
• jlrP086710.pdf

View BVdb publication page

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GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine

Turner, Adam W AW; Wong, Doris D; Dreisbach, Caitlin N CN; Miller, Clint L CL

Publication Date: 2018

Variant appearance in text: rs76353203

PubMed Link: 29988570

Variant Present in the following documents:

• Main text
• fcvm-05-00072.pdf

View BVdb publication page

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Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology

Saeed, Anum A; Feofanova, Elena V EV; Yu, Bing B; Sun, Wensheng W; Virani, Salim S SS; Nambi, Vijay V; Coresh, Josef J; Guild, Cameron S CS; Boerwinkle, Eric E; Ballantyne, Christie M CM; Hoogeveen, Ron C RC

Publication Date: 2018-07-10

Variant appearance in text: rs76353203

PubMed Link: 29976289

Variant Present in the following documents:

• Main text

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An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort.

Journal Of Lipid Research

Geng, Xin X; Irvin, Marguerite R MR; Hidalgo, Bertha B; Aslibekyan, Stella S; Srinivasasainagendra, Vinodh V; An, Ping P; Frazier-Wood, Alexis C AC; Tiwari, Hemant K HK; Dave, Tushar T; Ryan, Kathleen K; Ordovas, Jose M JM; Straka, Robert J RJ; Feitosa, Mary F MF; Hopkins, Paul N PN; Borecki, Ingrid I; Province, Michael A MA; Mitchell, Braxton D BD; Arnett, Donna K DK; Zhi, Degui D

Publication Date: 2018-04

Variant appearance in text: rs76353203

PubMed Link: 29463568

Variant Present in the following documents:

• Main text

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Regulation of intestinal lipid and lipoprotein metabolism by the proglucagon-derived peptides glucagon like peptide 1 and glucagon like peptide 2.

Current Opinion In Lipidology

Mulvihill, Erin E EE

Publication Date: 2018-04

Variant appearance in text: APOC3: R19X

PubMed Link: 29432213

Variant Present in the following documents:

• Main text

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Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Circulation. Cardiovascular Genetics

Hsueh, Wen-Chi WC; Nair, Anup K AK; Kobes, Sayuko S; Chen, Peng P; Göring, Harald H H HHH; Pollin, Toni I TI; Malhotra, Alka A; Knowler, William C WC; Baier, Leslie J LJ; Hanson, Robert L RL

Publication Date: 2017-12

Variant appearance in text: APOC3: R19X; rs76353203

PubMed Link: 29237685

Variant Present in the following documents:

• Main text

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Personalized Management of Cardiovascular Disorders.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre

Jain, Kewal K KK

Publication Date: 2017

Variant appearance in text: APOC3: R19X

PubMed Link: 28898880

Variant Present in the following documents:

• Main text

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The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.

Journal Of Lipid Research

Sundaram, Meenakshi M; Curtis, Kaitlin R KR; Amir Alipour, Mohsen M; LeBlond, Nicholas D ND; Margison, Kaitlyn D KD; Yaworski, Rebecca A RA; Parks, Robin J RJ; McIntyre, Adam D AD; Hegele, Robert A RA; Fullerton, Morgan D MD; Yao, Zemin Z

Publication Date: 2017-11

Variant appearance in text: APOC3: Arg19X

PubMed Link: 28887372

Variant Present in the following documents:

• Main text

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A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.

Nature Medicine

Khetarpal, Sumeet A SA; Zeng, Xuemei X; Millar, John S JS; Vitali, Cecilia C; Somasundara, Amritha Varshini Hanasoge AVH; Zanoni, Paolo P; Landro, James A JA; Barucci, Nicole N; Zavadoski, William J WJ; Sun, Zhiyuan Z; de Haard, Hans H; Toth, Ildikó V IV; Peloso, Gina M GM; Natarajan, Pradeep P; Cuchel, Marina M; Lund-Katz, Sissel S; Phillips, Michael C MC; Tall, Alan R AR; Kathiresan, Sekar S; DaSilva-Jardine, Paul P; Yates, Nathan A NA; Rader, Daniel J DJ

Publication Date: 2017-09

Variant appearance in text: APOC3: R19*

PubMed Link: 28825717

Variant Present in the following documents:

• Main text

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Key differences between apoC-III regulation and expression in intestine and liver.

Biochemical And Biophysical Research Communications

West, Gabrielle G; Rodia, Cayla C; Li, Diana D; Johnson, Zania Z; Dong, Hongli H; Kohan, Alison B AB

Publication Date: 2017-09-23

Variant appearance in text: ApoC-III: R19X

PubMed Link: 28739253

Variant Present in the following documents:

• Main text

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Apolipoprotein C-III inhibits triglyceride hydrolysis by GPIHBP1-bound LPL.

Journal Of Lipid Research

Larsson, Mikael M; Allan, Christopher M CM; Jung, Rachel S RS; Heizer, Patrick J PJ; Beigneux, Anne P AP; Young, Stephen G SG; Fong, Loren G LG

Publication Date: 2017-09

Variant appearance in text: APOC3: R19X

PubMed Link: 28694296

Variant Present in the following documents:

• Main text

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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Nature Communications

Xue, Yali Y; Mezzavilla, Massimo M; Haber, Marc M; McCarthy, Shane S; Chen, Yuan Y; Narasimhan, Vagheesh V; Gilly, Arthur A; Ayub, Qasim Q; Colonna, Vincenza V; Southam, Lorraine L; Finan, Christopher C; Massaia, Andrea A; Chheda, Himanshu H; Palta, Priit P; Ritchie, Graham G; Asimit, Jennifer J; Dedoussis, George G; Gasparini, Paolo P; Palotie, Aarno A; Ripatti, Samuli S; Soranzo, Nicole N; Toniolo, Daniela D; Wilson, James F JF; Durbin, Richard R; Tyler-Smith, Chris C; Zeggini, Eleftheria E

Publication Date: 2017-06-23

Variant appearance in text: rs76353203

PubMed Link: 28643794

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: APOC3: 55C>T; Arg19Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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