Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs585131

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, 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: rs585131

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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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: rs585131

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Associations of genetically proxied inhibition of HMG-CoA reductase, NPC1L1, and PCSK9 with breast cancer and prostate cancer.

Breast Cancer Research : Bcr

Sun, Lulu L; Ding, Huan H; Jia, Yiming Y; Shi, Mengyao M; Guo, Daoxia D; Yang, Pinni P; Wang, Yu Y; Liu, Fanghua F; Zhang, Yonghong Y; Zhu, Zhengbao Z

Publication Date: 2022-02-12

Variant appearance in text: rs585131

PubMed Link: 35151363

Variant Present in the following documents:

• Main text
• 13058_2022_Article_1508.pdf

View BVdb publication page

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Associations of genetically proxied inhibition of HMG-CoA reductase, NPC1L1, and PCSK9 with breast cancer and prostate cancer.

Breast Cancer Research : Bcr

Sun, Lulu L; Ding, Huan H; Jia, Yiming Y; Shi, Mengyao M; Guo, Daoxia D; Yang, Pinni P; Wang, Yu Y; Liu, Fanghua F; Zhang, Yonghong Y; Zhu, Zhengbao Z

Publication Date: 2022-02-12

Variant appearance in text: rs585131

PubMed Link: 35151363

Variant Present in the following documents:

• Main text
• 13058_2022_Article_1508.pdf

View BVdb publication page

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Association Between Genetically Proxied Lipid-Lowering Drug Targets and Renal Cell Carcinoma: A Mendelian Randomization Study.

Frontiers In Nutrition

Liu, Luyang L; Sheng, Chao C; Lyu, Zhangyan Z; Dai, Hongji H; Chen, Kexin K

Publication Date: 2021

Variant appearance in text: rs585131

PubMed Link: 34712689

Variant Present in the following documents:

• Main text
• fnut-08-755834.pdf

View BVdb publication page

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HMG-Coenzyme A Reductase as a Drug Target for the Prevention of Ankylosing Spondylitis.

Frontiers In Cell And Developmental Biology

Zhong, Zhenyu Z; Feng, Xiaojie X; Su, Guannan G; Du, Liping L; Liao, Weiting W; Liu, Shengyun S; Li, Fuzhen F; Zuo, Xianbo X; Yang, Peizeng P

Publication Date: 2021

Variant appearance in text: rs585131

PubMed Link: 34692687

Variant Present in the following documents:

• Main text
• fcell-09-731072.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: rs585131

PubMed Link: 34561430

Variant Present in the following documents:

• 41467_2021_25703_MOESM1_ESM.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs585131

PubMed Link: 34054912

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: rs585131

PubMed Link: 32760854

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.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: rs585131

PubMed Link: 32591531

Variant Present in the following documents:

• 41467_2020_16969_MOESM1_ESM.pdf

View BVdb publication page

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Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama

Yarmolinsky, James J; Bull, Caroline J CJ; Vincent, Emma E EE; Robinson, Jamie J; Walther, Axel A; Smith, George Davey GD; Lewis, Sarah J SJ; Relton, Caroline L CL; Martin, Richard M RM

Publication Date: 2020-02-18

Variant appearance in text: rs585131

PubMed Link: 32068819

Variant Present in the following documents:

• Main text

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: rs585131

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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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: rs585131

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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: rs585131

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports

Guo, Tao T; Yin, Rui-Xing RX; Yao, Li-Mei LM; Huang, Feng F; Pan, Ling L; Lin, Wei-Xiong WX; Yang, De-Zhai DZ; Pan, Shang-Ling SL

Publication Date: 2016-11-17

Variant appearance in text: rs585131

PubMed Link: 27853278

Variant Present in the following documents:

• Main text
• srep37375.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: rs585131

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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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs585131

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

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: rs585131

PubMed Link: 18300938

Variant Present in the following documents:

• Main text

View BVdb publication page

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