Publications:

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The effect of ACE2 receptor, IFN-γ, and TNF-α polymorphisms on the severity and prognosis of the disease in SARS-CoV-2 infection.

Journal Of Investigative Medicine : The Official Publication Of The American Federation For Clinical Research

Esen, Sayın Gülensoy SG; Basak, Celtikci C; Leyla, Özer Ö; Aslıhan, Alhan A; Evrim Eylem, Akpınar A

Publication Date: 2023-03-06

Variant appearance in text: rs4295

PubMed Link: 36876951

Variant Present in the following documents:

• Main text
• 10.1177_10815589231158379.pdf

View BVdb publication page

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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: rs4295

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.

Journal Of Medical Virology

Gholami, Morteza M; Zoughi, Marziyeh M; Hasanzad, Mandana M; Larijani, Bagher B; Amoli, Mahsa M MM

Publication Date: 2022-11-28

Variant appearance in text: rs4295

PubMed Link: 36443248

Variant Present in the following documents:

• Main text
• JMV-95-0.pdf

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs4295

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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: rs4295

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

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: rs4295

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A systematic review of nonsynonymous single nucleotide polymorphisms in the renin-angiotensin-aldosterone system.

Cardiology Journal

Rechciński, Tomasz T; Kasprzak, Jarosław D JD

Publication Date: 2021-06-01

Variant appearance in text: rs4295

PubMed Link: 34060646

Variant Present in the following documents:

• Main text
• cardj-29-6-1020.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: ACE: 418-70C>G; rs4295

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Influence in Exercise Performance.

Genes

Del Coso, Juan J; Lucia, Alejandro A

Publication Date: 2021-04-27

Variant appearance in text: rs4295

PubMed Link: 33925504

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.

Plos Genetics

Baird, Denis A DA; Liu, Jimmy Z JZ; Zheng, Jie J; Sieberts, Solveig K SK; Perumal, Thanneer T; Elsworth, Benjamin B; Richardson, Tom G TG; Chen, Chia-Yen CY; Carrasquillo, Minerva M MM; Allen, Mariet M; Reddy, Joseph S JS; De Jager, Philip L PL; Ertekin-Taner, Nilufer N; Mangravite, Lara M LM; Logsdon, Ben B; Estrada, Karol K; Haycock, Philip C PC; Hemani, Gibran G; Runz, Heiko H; Smith, George Davey GD; Gaunt, Tom R TR; ,

Publication Date: 2021-01

Variant appearance in text: rs4295

PubMed Link: 33417599

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Intersection between COVID-19, the Gene Family of ACE2 and Alzheimer's Disease.

Neuroscience Insights

Haghighi, Mahdi Montazer MM; Kakhki, Erfan Ghani EG; Sato, Christine C; Ghani, Mahdi M; Rogaeva, Ekaterina E

Publication Date: 2020

Variant appearance in text: rs4295

PubMed Link: 33283188

Variant Present in the following documents:

• Main text
• 10.1177_2633105520975743.pdf

View BVdb publication page

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Interindividual Variation in Cardiorespiratory Fitness: A Candidate Gene Study in Han Chinese People.

Genes

Gaowa, ; Del Coso, Juan J; Gu, Zhuangzhuang Z; Gerile, Wuyun W; Yang, Rui R; Díaz-Peña, Roberto R; Valenzuela, Pedro L PL; Lucia, Alejandro A; He, Zihong Z

Publication Date: 2020-05-15

Variant appearance in text: rs4295

PubMed Link: 32429201

Variant Present in the following documents:

• Main text
• genes-11-00555.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs4295

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects.

Circulation

Gill, Dipender D; Georgakis, Marios K MK; Koskeridis, Fotios F; Jiang, Lan L; Feng, Qiping Q; Wei, Wei-Qi WQ; Theodoratou, Evropi E; Elliott, Paul P; Denny, Joshua C JC; Malik, Rainer R; Evangelou, Evangelos E; Dehghan, Abbas A; Dichgans, Martin M; Tzoulaki, Ioanna I

Publication Date: 2019-07-23

Variant appearance in text: rs4295

PubMed Link: 31234639

Variant Present in the following documents:

• cir-140-270-s001.pdf

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: ACE: 418-70C>G; rs4295

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4295

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Renin angiotensin system deregulation as renal cancer risk factor.

Oncology Letters

Sobczuk, Paweł P; Szczylik, Cezary C; Porta, Camillo C; Czarnecka, Anna M AM

Publication Date: 2017-11

Variant appearance in text: rs4295

PubMed Link: 29098020

Variant Present in the following documents:

• Main text
• ol-14-05-5059.pdf

View BVdb publication page

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Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports

Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N

Publication Date: 2017-09-04

Variant appearance in text: rs4295

PubMed Link: 28871152

Variant Present in the following documents:

• 41598_2017_9019_MOESM1_ESM.pdf

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: rs4295

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension.

Scientific Reports

Mei, Mei M; Cheng, Guoqiang G; Sun, Bijun B; Yang, Lin L; Wang, Huijun H; Sun, Jinqiao J; Zhou, Wenhao W

Publication Date: 2016-07-18

Variant appearance in text: rs4295

PubMed Link: 27425626

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Genetic Polymorphisms of Renin-Angiotensin-Aldosterone System-Related Genes with Arterio-Venous Fistula Malfunction in Hemodialysis Patients.

International Journal Of Molecular Sciences

Chen, Yu-Wei YW; Wu, Yu-Te YT; Lin, Jhin-Shyaun JS; Yang, Wu-Chang WC; Hsu, Yung-Ho YH; Lee, Kuo-Hua KH; Ou, Shou-Ming SM; Chen, Yung-Tai YT; Shih, Chia-Jen CJ; Lee, Pui-Ching PC; Chan, Chia-Hao CH; Chung, Ming-Yi MY; Lin, Chih-Ching CC

Publication Date: 2016-05-27

Variant appearance in text: rs4295

PubMed Link: 27240348

Variant Present in the following documents:

• Main text
• ijms-17-00833.pdf

View BVdb publication page

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Is there Progress? An Overview of Selecting Biomarker Candidates for Major Depressive Disorder.

Frontiers In Psychiatry

Young, Juan Joseph JJ; Silber, Tim T; Bruno, Davide D; Galatzer-Levy, Isaac Robert IR; Pomara, Nunzio N; Marmar, Charles Raymond CR

Publication Date: 2016

Variant appearance in text: rs4295

PubMed Link: 27199779

Variant Present in the following documents:

• Main text

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: rs4295

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

Plos Genetics

Kauwe, John S K JS; Bailey, Matthew H MH; Ridge, Perry G PG; Perry, Rachel R; Wadsworth, Mark E ME; Hoyt, Kaitlyn L KL; Staley, Lyndsay A LA; Karch, Celeste M CM; Harari, Oscar O; Cruchaga, Carlos C; Ainscough, Benjamin J BJ; Bales, Kelly K; Pickering, Eve H EH; Bertelsen, Sarah S; , ; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM

Publication Date: 2014-10

Variant appearance in text: rs4295

PubMed Link: 25340798

Variant Present in the following documents:

• pgen.1004758.s006.xlsx, sheet 1

View BVdb publication page

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Angiotensin-converting enzyme gene variants are associated with both cortisol secretion and late-life depression.

Translational Psychiatry

Ancelin, M L ML; Carrière, I I; Scali, J J; Ritchie, K K; Chaudieu, I I; Ryan, J J

Publication Date: 2013-11-05

Variant appearance in text: rs4295

PubMed Link: 24193727

Variant Present in the following documents:

• Main text
• tp201395a.pdf

View BVdb publication page

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Fine-mapping angiotensin-converting enzyme gene: separate QTLs identified for hypertension and for ACE activity.

Plos One

Chung, Chia-Min CM; Wang, Ruey-Yun RY; Fann, Cathy S J CS; Chen, Jaw-Wen JW; Jong, Yuh-Shiun YS; Jou, Yuh-Shan YS; Yang, Hsin-Chou HC; Kang, Chih-Sen CS; Chen, Chien-Chung CC; Chang, Huan-Cheng HC; Pan, Wen-Harn WH

Publication Date: 2013

Variant appearance in text: rs4295

PubMed Link: 23469169

Variant Present in the following documents:

• Main text
• pone.0056119.pdf

View BVdb publication page

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The link between angiotensin II-mediated anxiety and mood disorders with NADPH oxidase-induced oxidative stress.

International Journal Of Physiology, Pathophysiology And Pharmacology

Liu, Feng F; Havens, Jennifer J; Yu, Qi Q; Wang, Gang G; Davisson, Robin L RL; Pickel, Virginia M VM; Iadecola, Costantino C

Publication Date: 2012

Variant appearance in text: rs4295

PubMed Link: 22461954

Variant Present in the following documents:

• Main text

View BVdb publication page

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Renin angiotensin system gene polymorphisms and cerebral blood flow regulation: the MOBILIZE Boston study.

Stroke

Hajjar, Ihab I; Sorond, Farzaneh F; Hsu, Yi-Hsiang YH; Galica, Andrew A; Cupples, L Adrienne LA; Lipsitz, Lewis A LA

Publication Date: 2010-04

Variant appearance in text: rs4295

PubMed Link: 20185782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.

Annual International Conference Of The Ieee Engineering In Medicine And Biology Society. Ieee Engineering In Medicine And Biology Society. Annual International Conference

Kim, Sungeun S; Shen, Li L; Saykin, Andrew J AJ; West, John D JD

Publication Date: 2009

Variant appearance in text: rs4295

PubMed Link: 19963597

Variant Present in the following documents:

• Main text

View BVdb publication page

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An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Edwards, Todd L TL; Pericak-Vance, Margaret M; Gilbert, Johnny R JR; Haines, Jonathan L JL; Martin, Eden R ER; Ritchie, Marylyn D MD

Publication Date: 2009-07-05

Variant appearance in text: rs4295

PubMed Link: 19105203

Variant Present in the following documents:

• Main text

View BVdb publication page

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Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

Genetic Epidemiology

Thornton-Wells, Tricia A TA; Moore, Jason H JH; Martin, Eden R ER; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL

Publication Date: 2008-04

Variant appearance in text: rs4295

PubMed Link: 18076107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community.

American Journal Of Human Genetics

Meng, Yan Y; Baldwin, Clinton T CT; Bowirrat, Abdalla A; Waraska, Kristin K; Inzelberg, Rivka R; Friedland, Robert P RP; Farrer, Lindsay A LA

Publication Date: 2006-05

Variant appearance in text: rs4295

PubMed Link: 16642441

Variant Present in the following documents:

• Main text

View BVdb publication page

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