Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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PCSK9 Inhibition and Risk of Diabetes: Should We Worry?

Current Atherosclerosis Reports

Carugo, Stefano S; Sirtori, Cesare R CR; Corsini, Alberto A; Tokgozoglu, Lale L; Ruscica, Massimiliano M

Publication Date: 2022-11-16

Variant appearance in text: rs11583680

PubMed Link: 36383291

Variant Present in the following documents:

• Main text
• 11883_2022_Article_1074.pdf

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: PCSK9: 158C>T; Ala53Val; rs11583680

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: PCSK9: A53V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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Association of PCSK9 levels and genetic polymorphisms with stroke recurrence and functional outcome after acute ischemic stroke.

Annals Of Translational Medicine

Chen, Weiqi W; Wang, Yicong Y; Meng, Xia X; Pan, Yuesong Y; Wang, Mengxing M; Li, Hao H; Wang, Yilong Y; Wang, Yongjun Y

Publication Date: 2022-07

Variant appearance in text: rs11583680

PubMed Link: 35957726

Variant Present in the following documents:

• Main text
• atm-10-13-729.pdf

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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Association of genetic polymorphisms of PCSK9 with type 2 diabetes in Uygur Chinese population.

Bmc Cardiovascular Disorders

Wang, Meng-Meng MM; Lu, Chen-Fei CF; Yan, Shi-Qi SQ; Wang, Bao-Zhu BZ; Yesitayi, Gulinazi G; Tian, Yong-Liang YL; Xiang-Ma, ; Ma, Yi-Tong YT

Publication Date: 2022-06-22

Variant appearance in text: rs11583680

PubMed Link: 35733117

Variant Present in the following documents:

• Main text
• 12872_2022_Article_2710.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: rs11583680

PubMed Link: 35480303

Variant Present in the following documents:

• Main text
• fgene-13-875269.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: PCSK9: A53V

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications

Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C

Publication Date: 2021-09-24

Variant appearance in text: rs11583680

PubMed Link: 34561430

Variant Present in the following documents:

• 41467_2021_25703_MOESM1_ESM.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: A53V; rs11583680

PubMed Link: 34356856

Variant Present in the following documents:

• Main text
• biomedicines-09-00793.pdf

View BVdb publication page

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Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors.

Scientific Reports

Gai, Min-Tao MT; Adi, Dilare D; Chen, Xiao-Cui XC; Liu, Fen F; Xie, Xiang X; Yang, Yi-Ning YN; Gao, Xiao-Ming XM; Ma, Xiang X; Fu, Zhen-Yan ZY; Ma, Yi-Tong YT; Chen, Bang-Dang BD

Publication Date: 2021-06-01

Variant appearance in text: rs11583680

PubMed Link: 34075144

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Levels and Cardiometabolic Risk Factors: A Population-Based Cohort Study.

Frontiers In Cardiovascular Medicine

Shi, Jie J; Li, Xiaoyong X; Zhang, Weiwei W; Niu, Yixin Y; Lin, Ning N; Zhang, Hongmei H; Ning, Guang G; Fan, Jiangao J; Qin, Li L; Su, Qing Q; Yang, Zhen Z

Publication Date: 2021

Variant appearance in text: rs11583680

PubMed Link: 34041285

Variant Present in the following documents:

• Main text

View BVdb publication page

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Susceptibility of ApoB and PCSK9 Genetic Polymorphisms to Diabetic Kidney Disease Among Chinese Diabetic Patients.

Frontiers In Medicine

Ma, Liang L; Wang, Shaoting S; Zhao, Hailing H; Yu, Meijie M; Deng, Xiangling X; Jiang, Yongwei Y; Cao, Yongtong Y; Li, Ping P; Niu, Wenquan W

Publication Date: 2021

Variant appearance in text: rs11583680

PubMed Link: 33889589

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: PCSK9: Ala53Val; rs11583680

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Frontiers In Genetics

Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M

Publication Date: 2021

Variant appearance in text: PCSK9: 158C>T; Ala53Val

PubMed Link: 33732287

Variant Present in the following documents:

• Main text
• fgene-12-625959.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: PCSK9: 158C>T; A53V; rs11583680

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: PCSK9: 158C>T; A53V; rs11583680

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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PCSK9 loss of function is protective against extra-coronary atherosclerotic cardiovascular disease in a large multi-ethnic cohort.

Plos One

Small, Aeron M AM; Huffman, Jennifer E JE; Klarin, Derek D; Lynch, Julie A JA; Assimes, Themistocles T; DuVall, Scott S; Sun, Yan V YV; Shere, Labiba L; Natarajan, Pradeep P; Gaziano, Michael M; Rader, Daniel J DJ; Wilson, Peter W F PWF; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Casas, Juan P JP; Damrauer, Scott M SM; ,

Publication Date: 2020

Variant appearance in text: rs11583680

PubMed Link: 33166319

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs11583680

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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: 158C>T; A53V

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

View BVdb publication page

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Proprotein Convertase Subtilisin/Kexin Type 9 Loss-of-Function Is Detrimental to the Juvenile Host With Septic Shock.

Critical Care Medicine

Atreya, Mihir R MR; Whitacre, Brynne E BE; Cvijanovich, Natalie Z NZ; Bigham, Michael T MT; Thomas, Neal J NJ; Schwarz, Adam J AJ; Weiss, Scott L SL; Fitzgerald, Julie C JC; Allen, Geoffrey L GL; Lutfi, Riad R; Nowak, Jeffrey E JE; Quasney, Michael W MW; Shah, Amy S AS; Wong, Hector R HR

Publication Date: 2020-10

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 32769621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Genetic and Environmental Factors with Non-Alcoholic Fatty Liver Disease in a Chinese Han Population.

International Journal Of Environmental Research And Public Health

Li, Zheng Z; Ye, Cheng-Yin CY; Wang, Li L; Li, Jin-Mei JM; Yang, Lei L

Publication Date: 2020-07-20

Variant appearance in text: rs11583680

PubMed Link: 32698306

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience

O'Connell, Emma M EM; Lohoff, Falk W FW

Publication Date: 2020

Variant appearance in text: rs11583680

PubMed Link: 32595449

Variant Present in the following documents:

• Main text
• fnins-14-00609.pdf

View BVdb publication page

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PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association

Ferreira, João Pedro JP; Xhaard, Constance C; Lamiral, Zohra Z; Borges-Canha, Marta M; Neves, João Sérgio JS; Dandine-Roulland, Claire C; LeFloch, Edith E; Deleuze, Jean-François JF; Bacq-Daian, Delphine D; Bozec, Erwan E; Girerd, Nicolas N; Boivin, Jean-Marc JM; Zannad, Faiez F; Rossignol, Patrick P

Publication Date: 2020-04-07

Variant appearance in text: rs11583680

PubMed Link: 32208829

Variant Present in the following documents:

• JAH3-9-e014758.pdf

View BVdb publication page

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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology

Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR

Publication Date: 2020-04-01

Variant appearance in text: rs11583680

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.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: 158C>T; Ala53Val

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics

da Silva Francisco Junior, Ronaldo R; Dos Santos Ferreira, Cristina C; Santos E Silva, Juan Carlo JC; Terra Machado, Douglas D; Côrtes Martins, Yasmmin Y; Ramos, Victor V; Simões Carnivali, Gustavo G; Garcia, Ana Beatriz AB; Medina-Acosta, Enrique E

Publication Date: 2019

Variant appearance in text: rs11583680

PubMed Link: 31850058

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Indian Journal Of Clinical Biochemistry : Ijcb

Nuglozeh, Edem E; Fazaludeen, Mohammad Feroze MF; Hasona, Nabil N; Malm, Tarja T; Mayor, Luisito B LB; Al-Hazmi, Awdah A; Ashankyty, Ibraheem I

Publication Date: 2019-10

Variant appearance in text: PCSK9: A53V

PubMed Link: 31686731

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.

Bmc Cardiovascular Disorders

Schmidt, Amand F AF; Holmes, Michael V MV; Preiss, David D; Swerdlow, Daniel I DI; Denaxas, Spiros S; Fatemifar, Ghazaleh G; Faraway, Rupert R; Finan, Chris C; Valentine, Dennis D; Fairhurst-Hunter, Zammy Z; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hypponen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, Kees K; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Lill, Christina M CM; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert A RA; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Jess, Tine T; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Lester, Kirchner H KH; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; Scott, Rodney R; Schofield, Peter P; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, D O DO; , ; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Meade, Tom T; Christophersen, Ingrid E IE; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Roussel, Ronan R; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Hopewell, Jemma C JC; Seshadri, Sudha S; , ; Dale, Caroline C; Costa, Rui Providencia E RPE; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Ritchie, Marylyn D MD; Lange, Leslie A LA; Cornish, Alex J AJ; Dobbins, Sara E SE; Hemminki, Kari K; Kinnersley, Ben B; Sanson, Marc M; Labreche, Karim K; Simon, Matthias M; Bondy, Melissa M; Law, Philip P; Speedy, Helen H; Allan, James J; Li, Ni N; Went, Molly M; Weinhold, Niels N; Morgan, Gareth G; Sonneveld, Pieter P; Nilsson, Björn B; Goldschmidt, Hartmut H; Sud, Amit A; Engert, Andreas A; Hansson, Markus M; Hemingway, Harry H; Asselbergs, Folkert W FW; Patel, Riyaz S RS; Keating, Brendan J BJ; Sattar, Naveed N; Houlston, Richard R; Casas, Juan P JP; Hingorani, Aroon D AD

Publication Date: 2019-10-29

Variant appearance in text: rs11583680

PubMed Link: 31664920

Variant Present in the following documents:

• Main text
• 12872_2019_Article_1187.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PCSK9: 158C>T; Ala53Val; rs11583680

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A Genetic Approach to the Association Between PCSK9 and Sepsis.

Jama Network Open

Feng, QiPing Q; Wei, Wei-Qi WQ; Chaugai, Sandip S; Carranza Leon, Barbara G BG; Kawai, Vivian V; Carranza Leon, Daniel A DA; Jiang, Lan L; Zhong, Xue X; Liu, Ge G; Ihegword, Andrea A; Shaffer, Christian M CM; Linton, MacRae F MF; Chung, Cecilia P CP; Stein, C Michael CM

Publication Date: 2019-09-04

Variant appearance in text: PCSK9: Ala53Val; rs11583680

PubMed Link: 31509211

Variant Present in the following documents:

• Main text
• jamanetwopen-2-e1911130-s001.pdf

View BVdb publication page

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs11583680

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

View BVdb publication page

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Reduced Proprotein convertase subtilisin/kexin 9 (PCSK9) function increases lipoteichoic acid clearance and improves outcomes in Gram positive septic shock patients.

Scientific Reports

Leung, Alex K K AKK; Genga, Kelly Roveran KR; Topchiy, Elena E; Cirstea, Mihai M; Shimada, Tadanaga T; Fjell, Chris C; Russell, James A JA; Boyd, John H JH; Walley, Keith R KR

Publication Date: 2019-07-22

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 31332258

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke: A Nested Case-Control Study.

Yonsei Medical Journal

Zhao, Tian Yu TY; Li, Zheng Z; Lei, Song S; Huang, Liu L; Yang, Lei L

Publication Date: 2019-07

Variant appearance in text: rs11583680

PubMed Link: 31250580

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis.

Lipids In Health And Disease

Chuan, Junlan J; Qian, Zhengxu Z; Zhang, Yuan Y; Tong, Rongsheng R; Peng, Min M

Publication Date: 2019-04-30

Variant appearance in text: PCSK9: 158C>T; rs11583680

PubMed Link: 31036026

Variant Present in the following documents:

• Main text
• 12944_2019_Article_1036.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PCSK9: 158C>T; Ala53Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

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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: rs11583680

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine

Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ

Publication Date: 2019

Variant appearance in text: rs11583680

PubMed Link: 30774981

Variant Present in the following documents:

• Main text
• 41525_2019_Article_78.pdf

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Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors.

Ebiomedicine

Genga, Kelly Roveran KR; Lo, Cody C; Cirstea, Mihai S MS; Leitao Filho, Fernando Sergio FS; Walley, Keith R KR; Russell, James A JA; Linder, Adam A; Francis, Gordon A GA; Boyd, John H JH

Publication Date: 2018-12

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 30473376

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.

Circulation. Genomic And Precision Medicine

Rao, Abhiram S AS; Lindholm, Daniel D; Rivas, Manuel A MA; Knowles, Joshua W JW; Montgomery, Stephen B SB; Ingelsson, Erik E

Publication Date: 2018-07

Variant appearance in text: rs11583680

PubMed Link: 29997226

Variant Present in the following documents:

• Main text

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Survival benefit of a low ratio of visceral to subcutaneous adipose tissue depends on LDL clearance versus production in sepsis.

Critical Care (London, England)

Lee, Joseph G H JGH; Genga, Kelly R KR; Pisitsak, Chawika C; Boyd, John H JH; Leung, Alex K K AKK; Russell, James A JA; Walley, Keith R KR

Publication Date: 2018-03-06

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 29510719

Variant Present in the following documents:

• Main text
• 13054_2018_Article_1985.pdf

View BVdb publication page

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Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications

Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J

Publication Date: 2018-03-02

Variant appearance in text: rs11583680

PubMed Link: 29500430

Variant Present in the following documents:

• 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1

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: A53V; rs11583680

PubMed Link: 29036232

Variant Present in the following documents:

• Main text

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Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

European Heart Journal

Hopewell, Jemma C JC; Malik, Rainer R; Valdés-Márquez, Elsa E; Worrall, Bradford B BB; Collins, Rory R; ,

Publication Date: 2018-02-01

Variant appearance in text: PCSK9: A53V; rs11583680

PubMed Link: 29020353

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Neural Regeneration Research

Han, Deng-Feng DF; Ma, Jian-Hua JH; Hao, Chen-Guang CG; Tuerhong Tuerxun, ; Du, Lei L; Zhang, Xiao-Ning XN

Publication Date: 2017-08

Variant appearance in text: PCSK9: Ala53Val; rs11583680

PubMed Link: 28966647

Variant Present in the following documents:

• Main text

View BVdb publication page

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