Publications:

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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: rs4331

PubMed Link: 37091860

Variant Present in the following documents:

• JRAAS2023-1159973.pdf

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ACE: A731A

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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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: N/A

PubMed Link: 36876951

Variant Present in the following documents:

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: N/A

PubMed Link: 36467812

Variant Present in the following documents:

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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

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: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

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Association of the angiotensin I converting enzyme (ACE) gene polymorphisms with recurrent aphthous stomatitis in the Czech population: case-control study.

Bmc Oral Health

Bartakova, Julie J; Deissova, Tereza T; Slezakova, Simona S; Bartova, Jirina J; Petanova, Jitka J; Kuklinek, Pavel P; Fassmann, Antonin A; Borilova Linhartova, Petra P; Dušek, Ladislav L; Izakovicova Holla, Lydie L

Publication Date: 2022-03-19

Variant appearance in text: rs4331

PubMed Link: 35305614

Variant Present in the following documents:

• Main text
• 12903_2022_Article_2115.pdf

View BVdb publication page

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Population Genetic Polymorphism of Skeletal Muscle Strength Related Genes in Five Ethnic Minorities in North China.

Frontiers In Genetics

Dong, Bonan B; Li, Qiuyan Q; Zhang, Tingting T; Liang, Xiao X; Jia, Mansha M; Fu, Yansong Y; Bai, Jing J; Fu, Songbin S

Publication Date: 2021

Variant appearance in text: rs4331

PubMed Link: 34745225

Variant Present in the following documents:

• Main text
• fgene-12-756802.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: N/A

PubMed Link: 34054912

Variant Present in the following documents:

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.

International Journal Of Molecular Sciences

Kringel, Dario D; Malkusch, Sebastian S; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2021-01-16

Variant appearance in text: rs4331

PubMed Link: 33467215

Variant Present in the following documents:

• Main text
• ijms-22-00878.pdf

View BVdb publication page

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Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International

Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2020

Variant appearance in text: N/A

PubMed Link: 32624706

Variant Present in the following documents:

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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4331

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, 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: N/A

PubMed Link: 32046637

Variant Present in the following documents:

View BVdb publication page

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Cumulative Influence of Inflammatory Response Genetic Variation on Long-Term Neurobehavioral Outcomes after Pediatric Traumatic Brain Injury Relative to Orthopedic Injury: An Exploratory Polygenic Risk Score.

Journal Of Neurotrauma

Treble-Barna, Amery A; Pilipenko, Valentina V; Wade, Shari L SL; Jegga, Anil G AG; Yeates, Keith Owen KO; Taylor, H Gerry HG; Martin, Lisa J LJ; Kurowski, Brad G BG

Publication Date: 2020-07-01

Variant appearance in text: rs4331

PubMed Link: 32024452

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: N/A

PubMed Link: 31640808

Variant Present in the following documents:

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Liu, Xiangyin X; Xi, Qi Q; Li, Leilei L; Wang, Qiyuan Q; Jiang, Yuting Y; Zhang, Hongguo H; Liu, Ruizhi R; Wang, Ruixue R

Publication Date: 2019-08-04

Variant appearance in text: rs4331

PubMed Link: 31377750

Variant Present in the following documents:

• Main text
• medscimonit-25-5801.pdf

View BVdb publication page

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Association Between Polymorphisms in the Angiotensin-Converting Enzyme Gene and Non-Obstructive Azoospermia in the Chinese Han Population from Northeast China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Ruixue R; He, Jing J; Xi, Qi Q; Jiang, Yuting Y; Li, Linlin L; Liu, Ruizhi R; Zhang, Hongguo H

Publication Date: 2019-06-14

Variant appearance in text: rs4331

PubMed Link: 31198195

Variant Present in the following documents:

• Main text
• medscimonit-25-4423.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: ACE: 2193A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Conformational fingerprint of blood and tissue ACEs: Personalized approach.

Plos One

Danilov, Sergei M SM; Tikhomirova, Victoria E VE; Kryukova, Olga V OV; Balatsky, Alexander V AV; Bulaeva, Naida I NI; Golukhova, Elena Z EZ; Bokeria, Leo A LA; Samokhodskaya, Larisa M LM; Kost, Olga A OA

Publication Date: 2018

Variant appearance in text: rs4331

PubMed Link: 30589901

Variant Present in the following documents:

• Main text
• pone.0209861.pdf

View BVdb publication page

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Population genetic variations of the MMP3 gene revealed hypoxia adaptation in domesticated yaks (Bos grunniens).

Asian-Australasian Journal Of Animal Sciences

Ding, Xuezhi X; Yang, Chao C; Bao, Pengjia P; Wu, Xiaoyun X; Pei, Jie J; Yan, Ping P; Guo, Xian X

Publication Date: 2018-10-29

Variant appearance in text: rs4331

PubMed Link: 30381735

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genetic variations of the MMP3 gene revealed hypoxia adaptation in domesticated yaks (Bos grunniens).

Asian-Australasian Journal Of Animal Sciences

Ding, Xuezhi X; Yang, Chao C; Bao, Pengjia P; Wu, Xiaoyun X; Pei, Jie J; Yan, Ping P; Guo, Xian X

Publication Date: 2019-12-01

Variant appearance in text: rs4331

PubMed Link: 30381735

Variant Present in the following documents:

• Main text

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: 2193A>G; rs4331

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

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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: rs4331

PubMed Link: 30214008

Variant Present in the following documents:

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

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Associations between SNPs and immune-related circulating proteins in schizophrenia.

Scientific Reports

Chan, Man K MK; Cooper, Jason D JD; Heilmann-Heimbach, Stefanie S; Frank, Josef J; Witt, Stephanie H SH; Nöthen, Markus M MM; Steiner, Johann J; Rietschel, Marcella M; Bahn, Sabine S

Publication Date: 2017-10-03

Variant appearance in text: rs4331

PubMed Link: 28974776

Variant Present in the following documents:

• Main text
• 41598_2017_Article_12986.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: rs4331

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: N/A

PubMed Link: 28535796

Variant Present in the following documents:

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: rs4331

PubMed Link: 27425626

Variant Present in the following documents:

• Main text
• srep29877.pdf

View BVdb publication page

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Pharmacogenetic Risk Stratification in Angiotensin-Converting Enzyme Inhibitor-Treated Patients with Congestive Heart Failure: A Retrospective Cohort Study.

Plos One

Nelveg-Kristensen, Karl Emil KE; Busk Madsen, Majbritt M; Torp-Pedersen, Christian C; Køber, Lars L; Egfjord, Martin M; Berg Rasmussen, Henrik H; Riis Hansen, Peter P

Publication Date: 2015

Variant appearance in text: rs4331

PubMed Link: 26633885

Variant Present in the following documents:

• Main text
• pone.0144195.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: N/A

PubMed Link: 26549847

Variant Present in the following documents:

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26496393

Variant Present in the following documents:

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: N/A

PubMed Link: 25496518

Variant Present in the following documents:

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese.

Plos One

Montasser, May E ME; Shimmin, Lawrence C LC; Gu, Dongfeng D; Chen, Jing J; Gu, Charles C; Kelly, Tanika N TN; Jaquish, Cashell E CE; Rice, Treva K TK; Rao, Dabeeru C DC; Cao, Jie J; Chen, Jichun J; De-PeLiu, ; Whelton, Paul K PK; Hamm, Lotuce Lee LL; He, Jiang J; Hixson, James E JE

Publication Date: 2014

Variant appearance in text: rs4331

PubMed Link: 24658007

Variant Present in the following documents:

• Main text
• pone.0092468.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: N/A

PubMed Link: 24219164

Variant Present in the following documents:

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: rs4331

PubMed Link: 23469169

Variant Present in the following documents:

• Main text
• pone.0056119.pdf

View BVdb publication page

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Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypes.

The Hugo Journal

Farheen, Shabana S; Basu, Analabha A; Majumder, Partha P PP

Publication Date: 2011-12

Variant appearance in text: rs4331

PubMed Link: 23205163

Variant Present in the following documents:

• Main text

View BVdb publication page

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