Variant ID: 1-55509618-C-T

NM_174936.3(PCSK9):c.310C>T;(p.R104C)

This variant was identified in 14 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: R104C
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
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: R104C
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports
Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K
Publication Date: 2021-10-26

Variant appearance in text: PCSK9: R104C
PubMed Link: 34739847
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • mmc1.pdf
  • main.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: Arg104Cys
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx
View BVdb publication page



Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience
Shi, Tianyuan T; Cheung, Martin M
Publication Date: 2021-05-13

Variant appearance in text: PCSK9: R104C
PubMed Link: 33985584
Variant Present in the following documents:
  • Main text
  • 13578_2021_Article_594.pdf
View BVdb publication page



New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Frontiers In Physiology
Ying, Qidi Q; Chan, Dick C DC; Watts, Gerald F GF
Publication Date: 2021

Variant appearance in text: PCSK9: R104C
PubMed Link: 33643062
Variant Present in the following documents:
  • Main text
  • fphys-12-603910.pdf
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: R104C
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International
Ji, Xiaoli X; Wang, Min M; Chen, Fang F; Zhou, Junmei J
Publication Date: 2017

Variant appearance in text: PCSK9: R104C
PubMed Link: 29250119
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
Seidah, Nabil G NG
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R104C
PubMed Link: 28971102
Variant Present in the following documents:
  • Main text
View BVdb publication page



tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Bioinformatics (Oxford, England)
Wei, Chih-Hsuan CH; Phan, Lon L; Feltz, Juliana J; Maiti, Rama R; Hefferon, Tim T; Lu, Zhiyong Z
Publication Date: 2018-01-01

Variant appearance in text: PCSK9: 310C>T; Arg104Cys
PubMed Link: 28968638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease Models & Mechanisms
Si-Tayeb, Karim K; Idriss, Salam S; Champon, Benoite B; Caillaud, Amandine A; Pichelin, Matthieu M; Arnaud, Lucie L; Lemarchand, Patricia P; Le May, Cédric C; Zibara, Kazem K; Cariou, Bertrand B
Publication Date: 2016-01

Variant appearance in text: PCSK9: R104C
PubMed Link: 26586530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma PCSK9 concentrations during an oral fat load and after short term high-fat, high-fat high-protein and high-fructose diets.

Nutrition & Metabolism
Cariou, Bertrand B; Langhi, Cédric C; Le Bras, Maëlle M; Bortolotti, Murielle M; Lê, Kim-Anne KA; Theytaz, Fanny F; Le May, Cédric C; Guyomarc'h-Delasalle, Béatrice B; Zaïr, Yassine Y; Kreis, Roland R; Boesch, Chris C; Krempf, Michel M; Tappy, Luc L; Costet, Philippe P
Publication Date: 2013-01-08

Variant appearance in text: PCSK9: R104C
PubMed Link: 23298392
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: R104C
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PCSK9: R104C
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page