Publications:

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Can We Clarify the Causative Gene/Variants Underlying Familial Hypercholesterolemia and Improve Genetic Diagnosis Rate?

Journal Of Atherosclerosis And Thrombosis

Hori, Mika M

Publication Date: 2021-08-19

Variant appearance in text: PCSK9: Glu32Lys

PubMed Link: 34408116

Variant Present in the following documents:

• jat-29-571.pdf

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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

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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: 94G>A; Glu32Lys; rs564427867

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx

View BVdb publication page

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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
• main.pdf

View BVdb publication page

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Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Nagahara, Keiko K; Nishibukuro, Tsuyoshi T; Ogiwara, Yasuko Y; Ikegawa, Kento K; Tada, Hayato H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA; Ochi, Ayako A; Toyoda, Junya J; Nakano, Yuya Y; Adachi, Masanori M; Mizuno, Katsumi K; Hasegawa, Yukihiro Y; Dobashi, Kazushige K

Publication Date: 2021-05-20

Variant appearance in text: PCSK9: Glu32Lys

PubMed Link: 34011801

Variant Present in the following documents:

• jat-29-667.pdf

View BVdb publication page

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Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ

Publication Date: 2021-05-16

Variant appearance in text: PCSK9: E32K

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

View BVdb publication page

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Homozygous Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Nohara, Atsushi A; Tada, Hayato H; Ogura, Masatsune M; Okazaki, Sachiko S; Ono, Koh K; Shimano, Hitoshi H; Daida, Hiroyuki H; Dobashi, Kazushige K; Hayashi, Toshio T; Hori, Mika M; Matsuki, Kota K; Minamino, Tetsuo T; Yokoyama, Shinji S; Harada-Shiba, Mariko M

Publication Date: 2021-07-01

Variant appearance in text: PCSK9: E32K

PubMed Link: 33867421

Variant Present in the following documents:

• 28_665.pdf

View BVdb publication page

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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: 94G>A; E32K; rs564427867

PubMed Link: 33533259

Variant Present in the following documents:

• Main text
• JAH3-10-e018263.pdf
• JAH3-10-e018263-s001.pdf

View BVdb publication page

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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics

Kamar, Amina A; Khalil, Athar A; Nemer, Georges G

Publication Date: 2020

Variant appearance in text: PCSK9: E32K

PubMed Link: 33519890

Variant Present in the following documents:

• fgene-11-572045.pdf

View BVdb publication page

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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
• fcvm-07-582865.pdf

View BVdb publication page

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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
• fgene-11-01020.pdf

View BVdb publication page

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GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.

Scientific Reports

Kim, Hyoeun H; Lee, Chan Joo CJ; Pak, Hayeon H; Kim, Doo-Il DI; Rhee, Moo-Yong MY; Lee, Byoung Kwon BK; Ahn, Youngkeun Y; Cho, Byung-Ryul BR; Woo, Jeong-Taek JT; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2020-11-09

Variant appearance in text: PCSK9: 94G>A; Glu32Lys; rs564427867

PubMed Link: 33168860

Variant Present in the following documents:

• 41598_2020_75901_MOESM1_ESM.pdf

View BVdb publication page

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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