Publications:

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Acute Coronary Syndrome: Unravelling the Biology to Identify New Therapies.

Cells

Tucker, Bradley B; Patel, Sanjay S

Publication Date: 2022-12-19

Variant appearance in text: rs508487

PubMed Link: 36552899

Variant Present in the following documents:

• Main text
• cells-11-04136.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs508487

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screen.

Journal Of Lipid Research

Lucero, Diego D; Dikilitas, Ozan O; Mendelson, Michael M MM; Aligabi, Zahra Z; Islam, Promotto P; Neufeld, Edward B EB; Bansal, Aruna T AT; Freeman, Lita A LA; Vaisman, Boris B; Tang, Jingrong J; Combs, Christian A CA; Li, Yuesheng Y; Voros, Szilard S; Kullo, Iftikhar J IJ; Remaley, Alan T AT

Publication Date: 2022-01

Variant appearance in text: rs508487

PubMed Link: 34902367

Variant Present in the following documents:

• Main text
• main.pdf

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Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.

Bmc Gastroenterology

Eshraghian, Ahad A; Moasser, Elham E; Azarpira, Negar N; Fattahi, Mohammad Reza MR; Nikeghbalian, Saman S; Malek-Hosseini, Seyed Ali SA; Geramizadeh, Bita B

Publication Date: 2021-12-07

Variant appearance in text: rs508487

PubMed Link: 34876018

Variant Present in the following documents:

• Main text
• 12876_2021_Article_2041.pdf

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The rs508487, rs236911, and rs236918 Genetic Variants of the Proprotein Convertase Subtilisin-Kexin Type 7 (PCSK7) Gene Are Associated with Acute Coronary Syndrome and with Plasma Concentrations of HDL-Cholesterol and Triglycerides.

Cells

Vargas-Alarcón, Gilberto G; Pérez-Méndez, Oscar O; González-Pacheco, Héctor H; Ramírez-Bello, Julián J; Posadas-Sánchez, Rosalinda R; Escobedo, Galileo G; Fragoso, José Manuel JM

Publication Date: 2021-06-09

Variant appearance in text: rs508487

PubMed Link: 34207761

Variant Present in the following documents:

• Main text
• cells-10-01444.pdf

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Mouse Models of Human Proprotein Convertase Insufficiency.

Endocrine Reviews

Shakya, Manita M; Lindberg, Iris I

Publication Date: 2021-05-25

Variant appearance in text: rs508487

PubMed Link: 33382413

Variant Present in the following documents:

• Main text

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Association of small, dense LDL-cholesterol concentration and lipoprotein particle characteristics with coronary heart disease: A systematic review and meta-analysis.

Plos One

Liou, Lathan L; Kaptoge, Stephen S

Publication Date: 2020

Variant appearance in text: rs508487

PubMed Link: 33166340

Variant Present in the following documents:

• Main text
• pone.0241993.pdf

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Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Human Genomics

Moon, Sanghoon S; Lee, Young Y; Won, Sungho S; Lee, Juyoung J

Publication Date: 2018-11-01

Variant appearance in text: rs508487

PubMed Link: 30382898

Variant Present in the following documents:

• Main text

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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications

Southam, Lorraine L; Gilly, Arthur A; Süveges, Dániel D; Farmaki, Aliki-Eleni AE; Schwartzentruber, Jeremy J; Tachmazidou, Ioanna I; Matchan, Angela A; Rayner, Nigel W NW; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Xue, Yali Y; Dedoussis, George G; Zeggini, Eleftheria E

Publication Date: 2017-05-26

Variant appearance in text: rs508487

PubMed Link: 28548082

Variant Present in the following documents:

• ncomms15606-s1.pdf

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Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio

Guillemot, Johann J; Essalmani, Rachid R; Hamelin, Josée J; Seidah, Nabil G NG

Publication Date: 2014

Variant appearance in text: rs508487

PubMed Link: 25349778

Variant Present in the following documents:

• Main text
• main.pdf

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Heritability and genomics of gene expression in peripheral blood.

Nature Genetics

Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI

Publication Date: 2014-05

Variant appearance in text: rs508487

PubMed Link: 24728292

Variant Present in the following documents:

• NIHMS576016-supplement-1.pdf

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Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.

Arteriosclerosis, Thrombosis, And Vascular Biology

Hoogeveen, Ron C RC; Gaubatz, John W JW; Sun, Wensheng W; Dodge, Rhiannon C RC; Crosby, Jacy R JR; Jiang, Jennifer J; Couper, David D; Virani, Salim S SS; Kathiresan, Sekar S; Boerwinkle, Eric E; Ballantyne, Christie M CM

Publication Date: 2014-05

Variant appearance in text: rs508487

PubMed Link: 24558110

Variant Present in the following documents:

• Main text

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Genetics of the first seven proprotein convertase enzymes in health and disease.

Current Genomics

Turpeinen, Hannu H; Ortutay, Zsuzsanna Z; Pesu, Marko M

Publication Date: 2013-11

Variant appearance in text: rs508487

PubMed Link: 24396277

Variant Present in the following documents:

• Main text
• CG-14-453.pdf

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