Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs2483205

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Considerations of the Genetic Background of Obesity among Patients with Psoriasis.

Genes

Czarnecka, Anna A; Purzycka-Bohdan, Dorota D; Zabłotna, Monika M; Bohdan, Michał M; Nowicki, Roman J RJ; Szczerkowska-Dobosz, Aneta A

Publication Date: 2023-02-26

Variant appearance in text: rs2483205

PubMed Link: 36980866

Variant Present in the following documents:

• Main text

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: rs2483205

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2483205

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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: rs2483205

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: rs2483205

PubMed Link: 35733117

Variant Present in the following documents:

• Main text
• 12872_2022_Article_2710.pdf

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: rs2483205

PubMed Link: 34561430

Variant Present in the following documents:

• 41467_2021_25703_MOESM1_ESM.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: rs2483205

PubMed Link: 34075144

Variant Present in the following documents:

• Main text
• 41598_2021_Article_90975.pdf

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: rs2483205

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic and In Vitro Inhibition of PCSK9 and Calcific Aortic Valve Stenosis.

Jacc. Basic To Translational Science

Perrot, Nicolas N; Valerio, Vincenza V; Moschetta, Donato D; Boekholdt, S Matthijs SM; Dina, Christian C; Chen, Hao Yu HY; Abner, Erik E; Martinsson, Andreas A; Manikpurage, Hasanga D HD; Rigade, Sidwell S; Capoulade, Romain R; Mass, Elvira E; Clavel, Marie-Annick MA; Le Tourneau, Thierry T; Messika-Zeitoun, David D; Wareham, Nicholas J NJ; Engert, James C JC; Polvani, Gianluca G; Pibarot, Philippe P; Esko, Tõnu T; Smith, J Gustav JG; Mathieu, Patrick P; Thanassoulis, George G; Schott, Jean-Jacques JJ; Bossé, Yohan Y; Camera, Marina M; Thériault, Sébastien S; Poggio, Paolo P; Arsenault, Benoit J BJ

Publication Date: 2020-07

Variant appearance in text: rs2483205

PubMed Link: 32760854

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Genetic drug target validation using Mendelian randomisation.

Nature Communications

Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD

Publication Date: 2020-06-26

Variant appearance in text: rs2483205

PubMed Link: 32591531

Variant Present in the following documents:

• 41467_2020_16969_MOESM1_ESM.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2483205

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: PCSK9: 658-7C>T; rs2483205

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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: 658-7C>T; rs2483205

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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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: 658-7C>T; rs2483205

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
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PCSK9: 658-7C>T; rs2483205

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications

Nowak, Christoph C; Ärnlöv, Johan J

Publication Date: 2018-09-27

Variant appearance in text: rs2483205

PubMed Link: 30262900

Variant Present in the following documents:

• 41467_2018_6467_MOESM1_ESM.pdf

View BVdb publication page

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Methods for meta-analysis of multiple traits using GWAS summary statistics.

Genetic Epidemiology

Ray, Debashree D; Boehnke, Michael M

Publication Date: 2018-03

Variant appearance in text: rs2483205

PubMed Link: 29226385

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2483205

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Advances In Bioinformatics

Tang, Rongying R; Prosser, Debra O DO; Love, Donald R DR

Publication Date: 2016

Variant appearance in text: rs2483205

PubMed Link: 27313609

Variant Present in the following documents:

• 5614058.f1.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2483205

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J

Publication Date: 2015-09-28

Variant appearance in text: PCSK9: 658-7C>T; rs2483205

PubMed Link: 26415676

Variant Present in the following documents:

View BVdb publication page

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A PLSPM-based test statistic for detecting gene-gene co-association in genome-wide association study with case-control design.

Plos One

Zhang, Xiaoshuai X; Yang, Xiaowei X; Yuan, Zhongshang Z; Liu, Yanxun Y; Li, Fangyu F; Peng, Bin B; Zhu, Dianwen D; Zhao, Jinghua J; Xue, Fuzhong F

Publication Date: 2013

Variant appearance in text: rs2483205

PubMed Link: 23620809

Variant Present in the following documents:

• Main text
• pone.0062129.pdf

View BVdb publication page

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PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research

Postmus, Iris I; Trompet, Stella S; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ford, Ian I; Stott, David J DJ; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Jukema, J Wouter JW

Publication Date: 2013-02

Variant appearance in text: rs2483205

PubMed Link: 23300213

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics

Ding, Keyue K; Kullo, Iftikhar J IJ

Publication Date: 2008-03

Variant appearance in text: rs2483205

PubMed Link: 18300938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics

Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,

Publication Date: 2006-12

Variant appearance in text: rs2483205

PubMed Link: 17142622

Variant Present in the following documents:

• Main text

View BVdb publication page

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