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: PCSK9: 1660C>G; Gln554Glu
Identifying individual risk rare variants using protein structure guided local tests (POINT).
Plos Computational Biology
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.
Neural Regeneration Research
Han, Deng-Feng DF; Ma, Jian-Hua JH; Hao, Chen-Guang CG; Tuerhong Tuerxun, ; Du, Lei L; Zhang, Xiao-Ning XN
Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.
Atherosclerosis
Fairoozy, Roaa Hani RH; Cooper, Jackie J; White, Jon J; Giambartolomei, Claudia C; Folkersen, Lasse L; Wannamethee, S Goya SG; Jefferis, Barbara J BJ; Whincup, Peter P; Ben-Shlomo, Yoav Y; Kumari, Meena M; Kivimaki, Mika M; Wong, Andrew A; Hardy, Rebecca R; Kuh, Diana D; Gaunt, Tom R TR; Casas, J P JP; McLachlan, Stela S; Price, Jackie F JF; Hingorani, Aroon A; Franco-Cereceda, Anders A; Grewal, Thomas T; Kalea, Anastasia Z AZ; Humphries, Steve E SE; ,
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
The Journal Of Biological Chemistry
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.
Frontiers In Genetics
Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR
Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.
The Journal Of Biological Chemistry
Ly, Kévin K; Saavedra, Yascara Grisel Luna YG; Canuel, Maryssa M; Routhier, Sophie S; Desjardins, Roxane R; Hamelin, Josée J; Mayne, Janice J; Lazure, Claude C; Seidah, Nabil G NG; Day, Robert R
The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.
The Journal Of Biological Chemistry
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.
The Journal Of Biological Chemistry
Ni, Yan G YG; Condra, Jon H JH; Orsatti, Laura L; Shen, Xun X; Di Marco, Stefania S; Pandit, Shilpa S; Bottomley, Matthew J MJ; Ruggeri, Lionello L; Cummings, Richard T RT; Cubbon, Rose M RM; Santoro, Joseph C JC; Ehrhardt, Anka A; Lewis, Dale D; Fisher, Timothy S TS; Ha, Sookhee S; Njimoluh, Leila L; Wood, Dana D DD; Hammond, Holly A HA; Wisniewski, Douglas D; Volpari, Cinzia C; Noto, Alessia A; Lo Surdo, Paola P; Hubbard, Brian B; Carfí, Andrea A; Sitlani, Ayesha A
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.