Variant ID: 1-55505604-G-A

NM_174936.3(PCSK9):c.94G>A;(p.E32K)

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics
Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2022

Variant appearance in text: PCSK9: 94G>A; Glu32Lys
PubMed Link: 35480308
Variant Present in the following documents:
  • Presentation1.pdf
View BVdb publication page



Insight into the Evolving Role of PCSK9.

Metabolites
Maligłówka, Mateusz M; Kosowski, Michał M; Hachuła, Marcin M; Cyrnek, Marcin M; Bułdak, Łukasz Ł; Basiak, Marcin M; Bołdys, Aleksandra A; Machnik, Grzegorz G; Bułdak, Rafał Jakub RJ; Okopień, Bogusław B
Publication Date: 2022-03-17

Variant appearance in text: PCSK9: E32K
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Jama Network Open
Fahed, Akl C AC; Wang, Minxian M; Patel, Aniruddh P AP; Ajufo, Ezimamaka E; Maamari, Dimitri J DJ; Aragam, Krishna G KG; Brockman, Deanna G DG; Vosburg, Trish T; Ellinor, Patrick T PT; Ng, Kenney K; Khera, Amit V AV
Publication Date: 2022-03-01

Variant appearance in text: PCSK9: Glu32Lys
PubMed Link: 35294538
Variant Present in the following documents:
  • jamanetwopen-e222687-s001.pdf
View BVdb publication page



Individualized Treatment for Patients With Familial Hypercholesterolemia.

Journal Of Lipid And Atherosclerosis
Tada, Hayato H; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2022-01

Variant appearance in text: PCSK9: E32K
PubMed Link: 35118021
Variant Present in the following documents:
  • Main text
  • jla-11-39.pdf
View BVdb publication page



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: 2022-02-03

Variant appearance in text: PCSK9: E32K; rs564427867
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx
View BVdb publication page



A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18

Variant appearance in text: PCSK9: E32K
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.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: E32K
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal Of Clinical Laboratory Analysis
Hamasaki, Masato M; Sakane, Naoki N; Hara, Kazuo K; Kotani, Kazuhiko K
Publication Date: 2021-11

Variant appearance in text: PCSK9: E32K
PubMed Link: 34652028
Variant Present in the following documents:
  • Main text
  • JCLA-35-e24056.pdf
View BVdb publication page



Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: PCSK9: E32K
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06

Variant appearance in text: PCSK9: E32K
PubMed Link: 34447653
Variant Present in the following documents:
  • bjmg-24-005.pdf
View BVdb publication page



PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: PCSK9: E32K
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



Familial hypercholesterolemia in Southeast and East Asia.

American Journal Of Preventive Cardiology
Jackson, Candace L CL; Zordok, Magdi M; Kullo, Iftikhar J IJ
Publication Date: 2021-06

Variant appearance in text: PCSK9: 94G>A
PubMed Link: 34327494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: PCSK9: Glu32Lys
PubMed Link: 33533259
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine
Li, Yan-Yan YY; Wang, Hui H; Yang, Xin-Xing XX; Geng, Hong-Yu HY; Gong, Ge G; Lu, Xin-Zheng XZ
Publication Date: 2020

Variant appearance in text: PCSK9: Glu32Lys
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
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: E32K
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.

Bmj Open
Tada, Hayato H; Okada, Hirofumi H; Yoshida, Shohei S; Shimojima, Masaya M; Nomura, Akihiro A; Tsuda, Toyonobu T; Mori, Mika M; Takashima, Shin-Ichiro SI; Kato, Takeshi T; Usui, Soichiro S; Sakata, Kenji K; Hayashi, Kenshi K; Fujino, Noboru N; Inazu, Akihiro A; Takahara, Shizuko S; Imai, Yasuhito Y; Matsubara, Takao T; Nohara, Atsushi A; Miwa, Kenji K; Namura, Masanobu M; Terai, Hidenobu H; Yoshida, Taiji T; Araki, Tsutomu T; Minamoto, Masahiro M; Aburao, Toru T; Ito, Yuji Y; Nakanishi, Chiaki C; Kawasaki, Suguru S; Todo, Yasuhiro Y; Koizumi, Junji J; Kita, Yoshihito Y; Matsumoto, Hiroshi H; Shintaku, Hiroaki H; Hodatsu, Akihiko A; Ino, Hidekazu H; Higashikata, Toshinori T; Takata, Mutsuko M; Misawa, Katsushi K; Yamaguchi, Masato M; Noji, Yoshihiro Y; Osato, Kazuo K; Mabuchi, Tomohito T; Ichise, Taro T; Kaku, Bunji B; Katsuda, Shoji S; Fujimoto, Manabu M; Uchiyama, Katsuharu K; Fujioka, Kensuke K; Nakahashi, Takuya T; Nozue, Tsuyoshi T; Michishita, Ichiro I; Usuda, Kazuo K; Otowa, Kanichi K; Okeie, Kazuyasu K; Hirota, Satoshi S; Aburadani, Isao I; Kurokawa, Keisuke K; Takatori, Osamu O; Hondo, Shunichiro S; Oda, Hiroyuki H; Takata, Shigeo S; Murai, Hisayoshi H; Kinoshita, Masaki M; Nagai, Hideo H; Sekiguchi, Yoshiteru Y; Sakagami, Satoru S; Omi, Wataru W; Fujita, Chikara C; Katsuki, Tatsuo T; Ootsuji, Hiroshi H; Igarashi, Atsushi A; Nakano, Manabu M; Okura, Seiichiro S; Maeno, Koji K; Mitamura, Yasuhito Y; Sugimoto, Naoki N; Yamamoto, Masakazu M; Akao, Hironobu H; Kajinami, Kouji K; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2020-09-10

Variant appearance in text: PCSK9: Glu32Lys
PubMed Link: 32912992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: PCSK9: 94G>A; E32K
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02

Variant appearance in text: rs564427867
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.

Bmj Open
Nomura, Akihiro A; Tada, Hayato H; Okada, Hirofumi H; Nohara, Atsushi A; Ishikawa, Hideki H; Yoshimura, Kenichi K; Kawashiri, Masa-Aki MA
Publication Date: 2018-12-28

Variant appearance in text: PCSK9: Glu32Lys
PubMed Link: 30593551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine
Chan, Melody Lok-Yi ML; Cheung, Ching-Lung CL; Lee, Alan Chun-Hong AC; Yeung, Chun-Yip CY; Siu, Chung-Wah CW; Leung, Jenny Yin-Yan JY; Pang, Ho-Kwong HK; Tan, Kathryn Choon-Beng KC
Publication Date: 2019-02

Variant appearance in text: PCSK9: 94G>A
PubMed Link: 30592178
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal Medicine (Tokyo, Japan)
Shirahama, Ryo R; Ono, Takamichi T; Nagamatsu, Suguru S; Sueta, Daisuke D; Takashio, Seiji S; Chitose, Tadasuke T; Fujisue, Koichiro K; Sakamoto, Kenji K; Yamamoto, Eiichiro E; Izumiya, Yasuhiro Y; Kaikita, Koichi K; Hokimoto, Seiji S; Hori, Mika M; Harada-Shiba, Mariko M; Kajiwara, Ichiro I; Ogawa, Hisao H; Tsujita, Kenichi K
Publication Date: 2018

Variant appearance in text: PCSK9: E32K
PubMed Link: 30555118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese.

Scientific Reports
Tajima, Tomoyuki T; Morita, Hiroyuki H; Ito, Kaoru K; Yamazaki, Tsutomu T; Kubo, Michiaki M; Komuro, Issei I; Momozawa, Yukihide Y
Publication Date: 2018-05-25

Variant appearance in text: PCSK9: E32K
PubMed Link: 29802317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: PCSK9: E32K
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: E32K
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Kaya, Esra E; Kayıkçıoğlu, Meral M; Tetik Vardarlı, Aslı A; Eroğlu, Zuhal Z; Payzın, Serdar S; Can, Levent L
Publication Date: 2017-10

Variant appearance in text: PCSK9: E32K
PubMed Link: 28777095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.

Journal Of Atherosclerosis And Thrombosis
Mabuchi, Hiroshi H
Publication Date: 2017-03-01

Variant appearance in text: PCSK9: E32K
PubMed Link: 28179607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports
Wierød, Lene L; Cameron, Jamie J; Strøm, Thea Bismo TB; Leren, Trond P TP
Publication Date: 2016-12

Variant appearance in text: PCSK9: E32K
PubMed Link: 27896130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
Hopkins, Paul N PN; Defesche, Joep J; Fouchier, Sigrid W SW; Bruckert, Eric E; Luc, Gérald G; Cariou, Bertrand B; Sjouke, Barbara B; Leren, Trond P TP; Harada-Shiba, Mariko M; Mabuchi, Hiroshi H; Rabès, Jean-Pierre JP; Carrié, Alain A; van Heyningen, Charles C; Carreau, Valérie V; Farnier, Michel M; Teoh, Yee P YP; Bourbon, Mafalda M; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Soran, Handrean H; Marais, A David AD; Tada, Hayato H; Abifadel, Marianne M; Boileau, Catherine C; Chanu, Bernard B; Katsuda, Shoji S; Kishimoto, Ichiro I; Lambert, Gilles G; Makino, Hisashi H; Miyamoto, Yoshihiro Y; Pichelin, Matthieu M; Yagi, Kunimasa K; Yamagishi, Masakazu M; Zair, Yassine Y; Mellis, Scott S; Yancopoulos, George D GD; Stahl, Neil N; Mendoza, Johanna J; Du, Yunling Y; Hamon, Sara S; Krempf, Michel M; Swergold, Gary D GD
Publication Date: 2015-12

Variant appearance in text: PCSK9: Glu32Lys
PubMed Link: 26374825
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: E32K
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2015

Variant appearance in text: PCSK9: 94G>A; E32K
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Saavedra, Yascara Grisel Luna YG; Hamelin, Josée J; Asselin, Marie-Claude MC; Essalmani, Rachid R; Pasquato, Antonella A; Lemaire, Peter P; Duke, Gerald G; Miao, Bowman B; Duclos, Franck F; Parker, Rex R; Mayer, Gaétan G; Seidah, Nabil G NG
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: E32K
PubMed Link: 20937814
Variant Present in the following documents:
  • Main text
View BVdb publication page