Publications:

---

Association between Interactions among ACE Gene Polymorphisms and Essential Hypertension in Patients in the Hefei Region, Anhui, China.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas

Wang, Li L; Song, Ting-Ting TT; Dong, Chang-Wu CW

Publication Date: 2023

Variant appearance in text: rs4363

PubMed Link: 37091860

Variant Present in the following documents:

• JRAAS2023-1159973.pdf

View BVdb publication page

---

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: rs4363

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: rs4363

PubMed Link: 36443248

Variant Present in the following documents:

• Main text
• JMV-95-0.pdf

View BVdb publication page

---

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: rs4363

PubMed Link: 36241656

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs4363

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Speed and power-related gene polymorphisms associated with playing position in elite soccer players.

Biology Of Sport

Petr, Miroslav M; Thiel, Dan D; Kateřina, Kvapilová K; Brož, Petr P; Malý, Tomáš T; Zahálka, František F; Vostatková, Pavlína P; Wilk, Michal M; Chycki, Jakub J; Stastny, Petr P

Publication Date: 2022-03

Variant appearance in text: rs4363

PubMed Link: 35309536

Variant Present in the following documents:

• Main text
• JBS-39-105333.pdf

View BVdb publication page

---

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: rs4363

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs4363

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs4363

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Joint testing of donor and recipient genetic matching scores and recipient genotype has robust power for finding genes associated with transplant outcomes.

Genetic Epidemiology

Arthur, Victoria L VL; Guan, Weihua W; Loza, Bao-Li BL; Keating, Brendan B; Chen, Jinbo J

Publication Date: 2020-11

Variant appearance in text: rs4363

PubMed Link: 32783273

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs4363

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

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: rs4363

PubMed Link: 32429201

Variant Present in the following documents:

• Main text
• genes-11-00555.pdf

View BVdb publication page

---

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: rs4363

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs4363

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs4363

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

Genes and Elite Marathon Running Performance: A Systematic Review.

Journal Of Sports Science & Medicine

Moir, Hannah J HJ; Kemp, Rachael R; Folkerts, Dirk D; Spendiff, Owen O; Pavlidis, Cristina C; Opara, Elizabeth E

Publication Date: 2019-09

Variant appearance in text: rs4363

PubMed Link: 31427879

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs4363

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

---

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: rs4363

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs4363

PubMed Link: 30214008

Variant Present in the following documents:

• Main text
• nihms-1503453.pdf
• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Moe, Sharon M SM; Long, Jin J; Schwantes-An, Tae-Hwi Linus TL; Decker, Brian S BS; Wetherill, Leah L; Edenberg, Howard J HJ; Xuei, Xiaoling X; Vatta, Matteo M; Foroud, Tatiana M TM; Chertow, Glenn M GM

Publication Date: 2019-11-01

Variant appearance in text: rs4363

PubMed Link: 29982608

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.

Human Molecular Genetics

de Vries, Paul S PS; Yu, Bing B; Feofanova, Elena V EV; Metcalf, Ginger A GA; Brown, Michael R MR; Zeighami, Atefeh L AL; Liu, Xiaoming X; Muzny, Donna M DM; Gibbs, Richard A RA; Boerwinkle, Eric E; Morrison, Alanna C AC

Publication Date: 2017-09-01

Variant appearance in text: rs4363

PubMed Link: 28854705

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs4363

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc).

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas

Rodríguez-Reyna, Tatiana S TS; Núñez-Alvarez, Carlos C; Cruz-Lagunas, Alfredo A; Posadas-Sánchez, Rosalinda R; Pérez-Hernández, Nonanzit N; Jiménez-Alvarez, Luis L; Ramírez-Martínez, Gustavo G; Granados, Julio J; Vargas-Alarcón, Gilberto G; Zúñiga, Joaquín J

Publication Date: 2016-07

Variant appearance in text: rs4363

PubMed Link: 27488275

Variant Present in the following documents:

• jraas-2016-0019.pdf

View BVdb publication page

---

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: rs4363

PubMed Link: 27425626

Variant Present in the following documents:

• Main text
• srep29877.pdf

View BVdb publication page

---

Renin-Angiotensin System Gene Variants and Type 2 Diabetes Mellitus: Influence of Angiotensinogen.

Journal Of Diabetes Research

Joyce-Tan, Siew Mei SM; Zain, Shamsul Mohd SM; Abdul Sattar, Munavvar Zubaid MZ; Abdullah, Nor Azizan NA

Publication Date: 2016

Variant appearance in text: rs4363

PubMed Link: 26682227

Variant Present in the following documents:

• Main text
• JDR2016-2161376.pdf

View BVdb publication page

---

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: rs4363

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

---

Genetic determinants influencing human serum metabolome among African Americans.

Plos Genetics

Yu, Bing B; Zheng, Yan Y; Alexander, Danny D; Morrison, Alanna C AC; Coresh, Josef J; Boerwinkle, Eric E

Publication Date: 2014-03

Variant appearance in text: rs4363

PubMed Link: 24625756

Variant Present in the following documents:

• Main text
• pgen.1004212.pdf

View BVdb publication page

---

Single nucleotide polymorphisms of the angiotensin-converting enzyme (ACE) gene are associated with essential hypertension and increased ACE enzyme levels in Mexican individuals.

Plos One

Martínez-Rodríguez, Nancy N; Posadas-Romero, Carlos C; Villarreal-Molina, Teresa T; Vallejo, Maite M; Del-Valle-Mondragón, Leonardo L; Ramírez-Bello, Julian J; Valladares, Adan A; Cruz-López, Miguel M; Vargas-Alarcón, Gilberto G

Publication Date: 2013

Variant appearance in text: rs4363

PubMed Link: 23741507

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs4363

PubMed Link: 23469169

Variant Present in the following documents:

• Main text
• pone.0056119.pdf

View BVdb publication page

---

A multi-center study of ACE and the risk of late-onset Alzheimer's disease.

Journal Of Alzheimer'S Disease : Jad

Belbin, Olivia O; Brown, Kristelle K; Shi, Hui H; Medway, Christopher C; Abraham, Richard R; Passmore, Peter P; Mann, David D; Smith, A David AD; Holmes, Clive C; McGuinness, Bernadette B; Craig, David D; Warden, Donald D; Heun, Reinhard R; Kölsch, Heike H; Love, Seth S; Kalsheker, Noor N; Williams, Julie J; Owen, Michael J MJ; Carrasquillo, Minerva M; Younkin, Steven S; Morgan, Kevin K; Kehoe, Patrick G PG

Publication Date: 2011

Variant appearance in text: rs4363

PubMed Link: 21297258

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms in the ACE and ADRB2 genes and risks of aging-associated phenotypes: the case of myocardial infarction.

Rejuvenation Research

Kulminski, Alexander M AM; Culminskaya, Irina V IV; Ukraintseva, Svetlana V SV; Arbeev, Konstantin G KG; Akushevich, Igor I; Land, Kenneth C KC; Yashin, Anatoli I AI

Publication Date: 2010-02

Variant appearance in text: rs4363

PubMed Link: 20230274

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

Plos One

Nesterovitch, Andrew B AB; Hogarth, Kyle D KD; Adarichev, Vyacheslav A VA; Vinokour, Elena I EI; Schwartz, David E DE; Solway, Julian J; Danilov, Sergei M SM

Publication Date: 2009-12-14

Variant appearance in text: rs4363

PubMed Link: 20011602

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Promoter polymorphisms in ACE (angiotensin I-converting enzyme) associated with clinical outcomes in hypertension.

Clinical Pharmacology And Therapeutics

Johnson, A D AD; Gong, Y Y; Wang, D D; Langaee, T Y TY; Shin, J J; Cooper-Dehoff, R M RM; Schork, N J NJ; Binkley, P P; Pepine, C J CJ; Johnson, J A JA; Sadee, W W

Publication Date: 2009-01

Variant appearance in text: rs4363

PubMed Link: 18946466

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS).

Disease Markers

Abdollahi, Mohammad Reza MR; Huang, Shuwen S; Rodriguez, Santiago S; Guthrie, Philip Alexander Isles PA; Smith, George Davey GD; Ebrahim, Shah S; Lawlor, Debbie A DA; Day, Ian N M IN; Gaunt, Tom R TR

Publication Date: 2008

Variant appearance in text: rs4363

PubMed Link: 18057531

Variant Present in the following documents:

• DM24-01-813679.pdf

View BVdb publication page

---

Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial.

Journal Of Hypertension

Bhatnagar, Vibha V; O'Connor, Daniel T DT; Schork, Nicholas J NJ; Salem, Rany M RM; Nievergelt, Caroline M CM; Rana, Brinda K BK; Smith, Douglas W DW; Bakris, George L GL; Middleton, John P JP; Norris, Keith C KC; Wright, Jackson T JT; Cheek, Deanna D; Hiremath, Leena L; Contreras, Gabriel G; Appel, Lawrence J LJ; Lipkowitz, Michael S MS

Publication Date: 2007-10

Variant appearance in text: rs4363

PubMed Link: 17885551

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program.

Genome Research

Zhu, Xiaofeng X; Yan, Denise D; Cooper, Richard S RS; Luke, Amy A; Ikeda, Morna A MA; Chang, Yen-Pei C YP; Weder, Alan A; Chakravarti, Aravinda A

Publication Date: 2003-02

Variant appearance in text: rs4363

PubMed Link: 12566395

Variant Present in the following documents:

• Main text

View BVdb publication page

---