Variant ID: 1-55518422-C-T

NM_174936.3(PCSK9):c.757C>T;(p.L253F)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: PCSK9: L253F
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
View BVdb publication page



Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International Journal Of Molecular Sciences
Grewal, Thomas T; Buechler, Christa C
Publication Date: 2022-01-19

Variant appearance in text: PCSK9: L253F
PubMed Link: 35162992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: PCSK9: L253F
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07

Variant appearance in text: PCSK9: 757C>T; Leu253Phe; rs72646508
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: L253F
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

American Journal Of Human Genetics
Kim, Hye In HI; Ye, Bin B; Gosalia, Nehal N; , ; Köroğlu, Çiğdem Ç; Hanson, Robert L RL; Hsueh, Wen-Chi WC; Knowler, William C WC; Baier, Leslie J LJ; Bogardus, Clifton C; Shuldiner, Alan R AR; Van Hout, Cristopher V CV
Publication Date: 2020-08-06

Variant appearance in text: PCSK9: Leu253Phe
PubMed Link: 32640185
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2019-02

Variant appearance in text: rs72646508
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Feng, Q Q; Wei, W Q WQ; Chung, C P CP; Levinson, R T RT; Bastarache, L L; Denny, J C JC; Stein, C M CM
Publication Date: 2017-03

Variant appearance in text: PCSK9: Leu253Phe; rs72646508
PubMed Link: 26902539
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2015

Variant appearance in text: PCSK9: 757C>T; L253F; rs72646508
PubMed Link: 25904937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: PCSK9: L253F; rs72646508
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemia.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
Elshourbagy, Nabil A NA; Meyers, Harold V HV; Abdel-Meguid, Sherin S SS
Publication Date: 2014

Variant appearance in text: PCSK9: L253F
PubMed Link: 24334831
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PCSK9: L253F; rs72646508
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Circulation. Cardiovascular Genetics
Huang, Chiang-Ching CC; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Wei, Gina S GS; Boerwinkle, Eric E; Liu, Kiang K
Publication Date: 2009-08

Variant appearance in text: PCSK9: L253F
PubMed Link: 20031607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal Of Clinical Endocrinology And Metabolism
Lakoski, Susan G SG; Lagace, Thomas A TA; Cohen, Jonathan C JC; Horton, Jay D JD; Hobbs, Helen H HH
Publication Date: 2009-07

Variant appearance in text: PCSK9: L253F
PubMed Link: 19351729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: L253F
PubMed Link: 17971861
Variant Present in the following documents:
  • Main text
View BVdb publication page



The self-inhibited structure of full-length PCSK9 at 1.9 A reveals structural homology with resistin within the C-terminal domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hampton, Eric N EN; Knuth, Mark W MW; Li, Jun J; Harris, Jennifer L JL; Lesley, Scott A SA; Spraggon, Glen G
Publication Date: 2007-09-11

Variant appearance in text: PCSK9: L253F
PubMed Link: 17804797
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2007-02

Variant appearance in text: PCSK9: L253F
PubMed Link: 17215125
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics
Zhao, Zhenze Z; Tuakli-Wosornu, Yetsa Y; Lagace, Thomas A TA; Kinch, Lisa L; Grishin, Nicholas V NV; Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-09

Variant appearance in text: PCSK9: L253F
PubMed Link: 16909389
Variant Present in the following documents:
  • Main text
View BVdb publication page



A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-03

Variant appearance in text:
PubMed Link: 16465619
Variant Present in the following documents:
  • Main text
View BVdb publication page