Publications:

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Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.

The American Journal Of Case Reports

Kamal, Aisyah A; Kanchau, Johanes Dedi JD; Shahuri, Nur Syahirah NS; Mohamed-Yassin, Mohamed-Syarif MS; Baharudin, Noorhida N; Abdul Razak, Suraya S; Badlishah-Sham, Siti Fatimah SF; Abdul-Hamid, Hasidah H; Abdul Aziz, Aznida Firzah AF; Al-Khateeb, Alyaa A; Chua, Yung An YA; Mohd Kasim, Noor Alicezah NA; Sheikh Abdul Kadir, Siti Hamimah SH; Nawawi, Hapizah H; Qureshi, Nadeem N; Ramli, Anis Safura AS

Publication Date: 2023-04-27

Variant appearance in text: PCSK9: 277C>T; R93C; rs151193009

PubMed Link: 37185657

Variant Present in the following documents:

• Main text
• amjcaserep-24-e939489.pdf

View BVdb publication page

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Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications

de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP

Publication Date: 2023-04-08

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 37031196

Variant Present in the following documents:

• 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Genes

Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R

Publication Date: 2023-03-15

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 36980993

Variant Present in the following documents:

• Main text
• genes-14-00721.pdf

View BVdb publication page

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Effect of PCSK9 on atherosclerotic cardiovascular diseases and its mechanisms: Focus on immune regulation.

Frontiers In Cardiovascular Medicine

Ma, Minglu M; Hou, Chang C; Liu, Jian J

Publication Date: 2023

Variant appearance in text: PCSK9: R93C

PubMed Link: 36970356

Variant Present in the following documents:

• Main text
• fcvm-10-1148486.pdf

View BVdb publication page

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Common and Rare PCSK9 Variants Associated with Low-Density Lipoprotein Cholesterol Levels and the Risk of Diabetes Mellitus: A Mendelian Randomization Study.

International Journal Of Molecular Sciences

Hsu, Lung-An LA; Teng, Ming-Sheng MS; Wu, Semon S; Chou, Hsin-Hua HH; Ko, Yu-Lin YL

Publication Date: 2022-09-08

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 36142332

Variant Present in the following documents:

• Main text
• ijms-23-10418.pdf

View BVdb publication page

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The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.

Frontiers In Genetics

Yang, Lincheng L; Pu, Tian T; Zhang, Yan Y; Yan, Hua H; Yu, Haiyi H; Gao, Wei W

Publication Date: 2022

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 35480303

Variant Present in the following documents:

• Main text
• fgene-13-875269.pdf

View BVdb publication page

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Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine

Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X

Publication Date: 2022-03

Variant appearance in text: PCSK9: 277C>T; Arg93Cys

PubMed Link: 35343078

Variant Present in the following documents:

• CTM2-12-e773-s001.pdf

View BVdb publication page

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Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Jci Insight

Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ

Publication Date: 2022-01-25

Variant appearance in text: PCSK9: 277C>T; Arg93Cys

PubMed Link: 34905512

Variant Present in the following documents:

• jciinsight-7-152198-s012.xlsx, sheet 7

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: R93C

PubMed Link: 34782856

Variant Present in the following documents:

• Main text
• fcvm-08-764038.pdf

View BVdb publication page

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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: R93C; rs151193009

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: 277C>T; Arg93Cys; rs151193009

PubMed Link: 34341098

Variant Present in the following documents:

• Main text
• openhrt-2021-001710.pdf
• openhrt-2021-001710supp001.xlsx, sheet 1

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: R93C

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

View BVdb publication page

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV

Publication Date: 2020-05-14

Variant appearance in text: PCSK9: Arg93Cys

PubMed Link: 32423031

Variant Present in the following documents:

• Main text
• jcdd-07-00016.pdf

View BVdb publication page

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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: 277C>T; Arg93Cys

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: PCSK9: Arg93Cys; rs151193009

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: PCSK9: 277C>T; Arg93Cys

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease

Lee, Chongyou C; Cui, Yuxia Y; Song, Junxian J; Li, Sufang S; Zhang, Feng F; Wu, Manyan M; Li, Long L; Hu, Dan D; Chen, Hong H

Publication Date: 2019-04-11

Variant appearance in text: PCSK9: 277C>T; Arg93Cys

PubMed Link: 30971288

Variant Present in the following documents:

• Main text
• 12944_2019_Article_1042.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: PCSK9: 277C>T; Arg93Trp

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs151193009

PubMed Link: 30779729

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports

Moon, Sanghoon S; Kim, Young Jin YJ; Han, Sohee S; Hwang, Mi Yeong MY; Shin, Dong Mun DM; Park, Min Young MY; Lu, Yontao Y; Yoon, Kyungheon K; Jang, Hye-Mi HM; Kim, Yun Kyoung YK; Park, Tae-Joon TJ; Song, Dae Sub DS; Park, Jae Kyung JK; Lee, Jong-Eun JE; Kim, Bong-Jo BJ

Publication Date: 2019-02-04

Variant appearance in text: rs151193009

PubMed Link: 30718733

Variant Present in the following documents:

• Main text
• 41598_2018_37832_MOESM1_ESM.pdf

View BVdb publication page

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Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine

Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J

Publication Date: 2019-01

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 30365130

Variant Present in the following documents:

• Main text
• ijmm-43-01-0057.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: PCSK9: 277C>T; R93C; rs151193009

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

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: R93C

PubMed Link: 29802317

Variant Present in the following documents:

• Main text
• 41598_2018_Article_26453.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs151193009

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: R93C

PubMed Link: 29259136

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics

Lu, Xiangfeng X; Peloso, Gina M GM; Liu, Dajiang J DJ; Wu, Ying Y; Zhang, He H; Zhou, Wei W; Li, Jun J; Tang, Clara Sze-Man CS; Dorajoo, Rajkumar R; Li, Huaixing H; Long, Jirong J; Guo, Xiuqing X; Xu, Ming M; Spracklen, Cassandra N CN; Chen, Yang Y; Liu, Xuezhen X; Zhang, Yan Y; Khor, Chiea Chuen CC; Liu, Jianjun J; Sun, Liang L; Wang, Laiyuan L; Gao, Yu-Tang YT; Hu, Yao Y; Yu, Kuai K; Wang, Yiqin Y; Cheung, Chloe Yu Yan CYY; Wang, Feijie F; Huang, Jianfeng J; Fan, Qiao Q; Cai, Qiuyin Q; Chen, Shufeng S; Shi, Jinxiu J; Yang, Xueli X; Zhao, Wanting W; Sheu, Wayne H-H WH; Cherny, Stacey Shawn SS; He, Meian M; Feranil, Alan B AB; Adair, Linda S LS; Gordon-Larsen, Penny P; Du, Shufa S; Varma, Rohit R; Chen, Yii-Der Ida YI; Shu, Xiao-Ou XO; Lam, Karen Siu Ling KSL; Wong, Tien Yin TY; Ganesh, Santhi K SK; Mo, Zengnan Z; Hveem, Kristian K; Fritsche, Lars G LG; Nielsen, Jonas Bille JB; Tse, Hung-Fat HF; Huo, Yong Y; Cheng, Ching-Yu CY; Chen, Y Eugene YE; Zheng, Wei W; Tai, E Shyong ES; Gao, Wei W; Lin, Xu X; Huang, Wei W; Abecasis, Goncalo G; , ; Kathiresan, Sekar S; Mohlke, Karen L KL; Wu, Tangchun T; Sham, Pak Chung PC; Gu, Dongfeng D; Willer, Cristen J CJ

Publication Date: 2017-12

Variant appearance in text: PCSK9: Arg93Cys; rs151193009

PubMed Link: 29083407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One

Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2017

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 29036232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heparan sulfate proteoglycans present PCSK9 to the LDL receptor.

Nature Communications

Gustafsen, Camilla C; Olsen, Ditte D; Vilstrup, Joachim J; Lund, Signe S; Reinhardt, Anika A; Wellner, Niels N; Larsen, Torben T; Andersen, Christian B F CBF; Weyer, Kathrin K; Li, Jin-Ping JP; Seeberger, Peter H PH; Thirup, Søren S; Madsen, Peder P; Glerup, Simon S

Publication Date: 2017-09-11

Variant appearance in text: PCSK9: R93C

PubMed Link: 28894089

Variant Present in the following documents:

• Main text
• 41467_2017_568_MOESM2_ESM.pdf
• 41467_2017_Article_568.pdf
• 41467_2017_568_MOESM1_ESM.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget

Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M

Publication Date: 2017-06-13

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 28473662

Variant Present in the following documents:

• Main text
• oncotarget-08-38950.pdf

View BVdb publication page

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Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications

Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W

Publication Date: 2015-12-22

Variant appearance in text: PCSK9: R93C; rs151193009

PubMed Link: 26690388

Variant Present in the following documents:

• Main text
• ncomms10206.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs151193009

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCSK9: R93C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: R93C

PubMed Link: 26195630

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease

Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M

Publication Date: 2013-05-10

Variant appearance in text: PCSK9: R93C

PubMed Link: 23663650

Variant Present in the following documents:

• Main text
• 1476-511X-12-70.pdf

View BVdb publication page

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