DNMT1 c.290A>G ;(p.H97R)

Variant ID: 19-10291181-T-C

NM_001130823.1(DNMT1):c.290A>G;(p.H97R)

This variant was identified in 52 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: DNMT1: 290A>G; His97Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: DNMT1: H97R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



DNMT3B rs2424913 as a Risk Factor for Congenital Heart Defects in Down Syndrome.

Genes
Majstorović, Dijana D; Barišić, Anita A; Božović, Ivana Babić IB; Čače, Iva Bilić IB; Čače, Neven N; Štifanić, Mauro M; Vraneković, Jadranka J
Publication Date: 2023-02-24

Variant appearance in text: rs16999593
PubMed Link: 36980848
Variant Present in the following documents:
  • Main text
  • genes-14-00576.pdf
View BVdb publication page



Gene-wide significant association analyses of DNMT1 genetic variants with Parkinson's disease.

Frontiers In Genetics
Wang, Jian-Yong JY; Cui, Lei L; Shi, Hong-Yi HY; Chen, Ling-Hao LH; Jin, Ren-Wei RW; Jiang, Xiao-Xia XX; Chen, Zhu-Ling ZL; Zhu, Jian-Hong JH; Zhang, Xiong X
Publication Date: 2023

Variant appearance in text: DNMT1: His97Arg; rs16999593
PubMed Link: 36950137
Variant Present in the following documents:
  • Main text
  • fgene-14-1112388.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs16999593
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Analysis of DNMT1 gene variants in progression of neural tube defects-an in silico to in vitro approach.

Bioscience Reports
Sadhukhan, Susanta S; Paul, Nirvika N; Ghosh, Sudakshina S; Munian, Dinesh D; Ganguly, Kausik K; Ghosh, Krishnendu K; Sengupta, Mainak M; Das, Madhusudan M
Publication Date: 2022-12-22

Variant appearance in text: DNMT1: H97R; rs16999593
PubMed Link: 36394275
Variant Present in the following documents:
  • BSR-2022-0998_supp.pdf
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: DNMT1: 290A>G; H97R
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Analysis of EZH2 Genetic Variants on Triple-Negative Breast Cancer Susceptibility and Pathology.

International Journal Of Medical Sciences
Liu, Liang-Chih LC; Chien, Yi-Chung YC; Wu, Guo-Wei GW; Hua, Chun-Hung CH; Tsai, I-Chen IC; Hung, Chih-Chiang CC; Wu, Tsai-Kun TK; Pan, Ying-Ru YR; Yang, Shun-Fa SF; Yu, Yung-Luen YL
Publication Date: 2022

Variant appearance in text: rs16999593
PubMed Link: 35813302
Variant Present in the following documents:
  • ijmsv19p1023.pdf
View BVdb publication page



DNMT3A and DNMT3B in Breast Tumorigenesis and Potential Therapy.

Frontiers In Cell And Developmental Biology
Man, Xiaxia X; Li, Qi Q; Wang, Baogang B; Zhang, He H; Zhang, Songling S; Li, Ziyi Z
Publication Date: 2022

Variant appearance in text: rs16999593
PubMed Link: 35620052
Variant Present in the following documents:
  • Main text
  • fcell-10-916725.pdf
View BVdb publication page



Susceptibility of Genetic Variations in Methylation Pathway to Gastric Cancer.

Pharmacogenomics And Personalized Medicine
Xiong, Mengqiu M; Pan, Bei B; Wang, Xuhong X; Nie, Junjie J; Pan, Yuqin Y; Sun, Huiling H; Xu, Tao T; Cho, William C S WCS; Wang, Shukui S; He, Bangshun B
Publication Date: 2022

Variant appearance in text: rs16999593
PubMed Link: 35548064
Variant Present in the following documents:
  • Main text
  • pgpm-15-441.pdf
View BVdb publication page



Association Between SNPs in the One-Carbon Metabolism Pathway and the Risk of Female Breast Cancer in a Chinese Population.

Pharmacogenomics And Personalized Medicine
Wang, Xuhong X; Xiong, Mengqiu M; Pan, Bei B; Cho, William C S WCS; Zhou, Jin J; Wang, Shukui S; He, Bangshun B
Publication Date: 2022

Variant appearance in text: rs16999593
PubMed Link: 35046699
Variant Present in the following documents:
  • Main text
  • pgpm-15-9.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: DNMT1: 290A>G; H97R; rs16999593
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Journal Of Hepatology
Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2021-09

Variant appearance in text: rs16999593
PubMed Link: 34033851
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.

Journal Of Hepatology
Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2021-09

Variant appearance in text: rs16999593
PubMed Link: 34033851
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



The Role of Epigenetics in Congenital Heart Disease.

Genes
Lim, Tingsen Benson TB; Foo, Sik Yin Roger SYR; Chen, Ching Kit CK
Publication Date: 2021-03-09

Variant appearance in text: rs16999593
PubMed Link: 33803261
Variant Present in the following documents:
  • Main text
  • genes-12-00390.pdf
View BVdb publication page



Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine
Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y
Publication Date: 2021-01

Variant appearance in text: DNMT1: H97R; rs16999593
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 19
View BVdb publication page



Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer
Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D
Publication Date: 2020-08

Variant appearance in text: DNMT1: 290A>G; H97R; rs16999593
PubMed Link: 32908788
Variant Present in the following documents:
  • jbc-23-373-s004.xls, sheet 1
View BVdb publication page



Epigenetic Mechanisms in Gastric Cancer: Potential New Therapeutic Opportunities.

International Journal Of Molecular Sciences
Canale, Matteo M; Casadei-Gardini, Andrea A; Ulivi, Paola P; Arechederra, Maria M; Berasain, Carmen C; Lollini, Pier-Luigi PL; Fernández-Barrena, Maite G MG; Avila, Matías A MA
Publication Date: 2020-07-31

Variant appearance in text: rs16999593
PubMed Link: 32752096
Variant Present in the following documents:
  • Main text
  • ijms-21-05500.pdf
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: DNMT1: H97R; rs16999593
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Genetic polymorphism in DNMTs and gastric cancer: A systematic review and meta-analysis.

Porto Biomedical Journal
Neves, Marco M; Ribeiro, Joana J; Medeiros, Rui R; Sousa, Hugo H
Publication Date: 2016

Variant appearance in text: rs16999593
PubMed Link: 32258570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies.

Cancer Biology & Medicine
Tian, Jie J; Liu, Guanchu G; Zuo, Chunjian C; Liu, Caiyang C; He, Wanlun W; Chen, Huanwen H
Publication Date: 2019-05

Variant appearance in text: DNMT1: His97Arg; rs16999593
PubMed Link: 31516756
Variant Present in the following documents:
  • Main text
  • cbm-16-2-361.pdf
View BVdb publication page



Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Therapeutic Advances In Medical Oncology
Liu, Feiyang F; Zou, Fengming F; Chen, Cheng C; Yu, Kailin K; Liu, Xiaochuan X; Qi, Shuang S; Wu, Jiaxin J; Hu, Chen C; Hu, Zhenquan Z; Liu, Juan J; Liu, Xuesong X; Wang, Li L; Ge, Juan J; Wang, Wenchao W; Ren, Tao T; Bai, Mingfeng M; Cai, Yujiao Y; Xiao, Xudong X; Qian, Feng F; Tang, Jun J; Liu, Qingsong Q; Liu, Jing J
Publication Date: 2019

Variant appearance in text: DNMT1: 290A>G; His97Arg
PubMed Link: 31205508
Variant Present in the following documents:
  • Supplemental_Table_3.xlsx, sheet 1
View BVdb publication page



krCRISPR: an easy and efficient strategy for generating conditional knockout of essential genes in cells.

Journal Of Biological Engineering
Wang, Bei B; Wang, Zishi Z; Wang, Daqi D; Zhang, Baolong B; Ong, Sang-Ging SG; Li, Mingqing M; Yu, Wenqiang W; Wang, Yongming Y
Publication Date: 2019

Variant appearance in text: DNMT1: H97R
PubMed Link: 31049076
Variant Present in the following documents:
  • Main text
  • 13036_2019_Article_150.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: DNMT1: 290A>G; His97Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Crosstalk of Genetic Variants, Allele-Specific DNA Methylation, and Environmental Factors for Complex Disease Risk.

Frontiers In Genetics
Wang, Huishan H; Lou, Dan D; Wang, Zhibin Z
Publication Date: 2018

Variant appearance in text: rs16999593
PubMed Link: 30687383
Variant Present in the following documents:
  • Main text
  • fgene-09-00695.pdf
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs16999593
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



DNMT1 and DNMT3A haplotypes associated with noise-induced hearing loss in Chinese workers.

Scientific Reports
Ding, Enmin E; Liu, Jing J; Guo, Haoran H; Shen, Huanxi H; Zhang, Hengdong H; Gong, Wei W; Song, Haiyan H; Zhu, Baoli B
Publication Date: 2018-08-15

Variant appearance in text: rs16999593
PubMed Link: 30111769
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29648.pdf
View BVdb publication page



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: DNMT1: 290A>G; H97R; rs16999593
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 3
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: rs16999593
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A Meta-Analysis of the Association between DNMT1 Polymorphisms and Cancer Risk.

Biomed Research International
Li, Hao H; Liu, Jing-Wei JW; Sun, Li-Ping LP; Yuan, Yuan Y
Publication Date: 2017

Variant appearance in text: rs16999593
PubMed Link: 28473984
Variant Present in the following documents:
  • Main text
  • BMRI2017-3971259.pdf
View BVdb publication page



DNMT1, DNMT3A and DNMT3B Polymorphisms Associated With Gastric Cancer Risk: A Systematic Review and Meta-analysis.

Ebiomedicine
Li, Hongjia H; Li, Wen W; Liu, Shanshan S; Zong, Shaoqi S; Wang, Weibing W; Ren, Jianlin J; Li, Qi Q; Hou, Fenggang F; Shi, Qi Q
Publication Date: 2016-11

Variant appearance in text: rs16999593
PubMed Link: 27789275
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic susceptibility to arsenic-induced skin lesions and health effects: a review.

Genes And Environment : The Official Journal Of The Japanese Environmental Mutagen Society
Paul, Somnath S; Majumdar, Sangita S; Giri, Ashok K AK
Publication Date: 2015

Variant appearance in text: rs16999593
PubMed Link: 27350818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of ChREBP and Global DNA Methylation with Genetic and Environmental Factors in Chinese Healthy Adults.

Plos One
Gao, Jiajia J; Qiu, Xueping X; Wang, Xuebin X; Peng, Chunyan C; Zheng, Fang F
Publication Date: 2016

Variant appearance in text: rs16999593
PubMed Link: 27281235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple gene mutations identified in patients infected with influenza A (H7N9) virus.

Scientific Reports
Chen, Cuicui C; Wang, Mingbang M; Zhu, Zhaoqin Z; Qu, Jieming J; Xi, Xiuhong X; Tang, Xinjun X; Lao, Xiangda X; Seeley, Eric E; Li, Tao T; Fan, Xiaomei X; Du, Chunling C; Wang, Qin Q; Yang, Lin L; Hu, Yunwen Y; Bai, Chunxue C; Zhang, Zhiyong Z; Lu, Shuihua S; Song, Yuanlin Y; Zhou, Wenhao W
Publication Date: 2016-05-09

Variant appearance in text: rs16999593
PubMed Link: 27156515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of the DNA Methyltransferase 1 Gene Predict Survival of Gastric Cancer Patients Receiving Tumorectomy.

Disease Markers
Jia, Zhifang Z; Wu, Xing X; Cao, Donghui D; Wang, Chuan C; You, Lili L; Jin, Meishan M; Wen, Simin S; Cao, Xueyuan X; Jiang, Jing J
Publication Date: 2016

Variant appearance in text: DNMT1: His97Arg; rs16999593
PubMed Link: 27087738
Variant Present in the following documents:
  • Main text
  • DM2016-8578064.pdf
View BVdb publication page



The role of epigenetics in idiopathic male infertility.

Journal Of Assisted Reproduction And Genetics
Gunes, Sezgin S; Arslan, Mehmet Alper MA; Hekim, Gulgez Neslihan Taskurt GNT; Asci, Ramazan R
Publication Date: 2016-05

Variant appearance in text: rs16999593
PubMed Link: 26941097
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs16999593
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: DNMT1: H97R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The Genetic Architecture of Arsenic Metabolism Efficiency:A SNP-Based Heritability Study of Bangladeshi Adults.

Environmental Health Perspectives
Gao, Jianjun J; Tong, Lin L; Argos, Maria M; Scannell Bryan, Molly M; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Kibriya, Muhammad G MG; Jasmine, Farzana F; Slavkovich, Vesna V; Graziano, Joseph H JH; Ahsan, Habibul H; Pierce, Brandon L BL
Publication Date: 2015-10

Variant appearance in text: rs16999593
PubMed Link: 25768001
Variant Present in the following documents:
  • Main text
  • ehp.1408909.pdf
View BVdb publication page



Risk-Association of DNMT1 Gene Polymorphisms with Coronary Artery Disease in Chinese Han Population.

International Journal Of Molecular Sciences
Peng, Chunyan C; Deng, Qianyun Q; Li, Zuhua Z; Xiong, Chenling C; Li, Cong C; Zheng, Fang F
Publication Date: 2014-12-08

Variant appearance in text: DNMT1: His97Arg; rs16999593
PubMed Link: 25493477
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: DNMT1: H97R; rs16999593
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Integrated microRNA and mRNA transcriptome sequencing reveals the potential roles of miRNAs in stage I endometrioid endometrial carcinoma.

Plos One
Xiong, Hanzhen H; Li, Qiulian Q; Liu, Shaoyan S; Wang, Fang F; Xiong, Zhongtang Z; Chen, Juan J; Chen, Hui H; Yang, Yuexin Y; Tan, Xuexian X; Luo, Qiuping Q; Peng, Juan J; Xiao, Guohong G; Jiang, Qingping Q
Publication Date: 2014

Variant appearance in text: DNMT1: H97R; rs16999593
PubMed Link: 25329664
Variant Present in the following documents:
  • pone.0110163.s001.xlsx, sheet 1
View BVdb publication page



DNA methyl transferase (DNMT) gene polymorphisms could be a primary event in epigenetic susceptibility to schizophrenia.

Plos One
Saradalekshmi, Koramannil Radha KR; Neetha, Nanoth Vellichiramal NV; Sathyan, Sanish S; Nair, Indu V IV; Nair, Chandrasekharan M CM; Banerjee, Moinak M
Publication Date: 2014

Variant appearance in text: rs16999593
PubMed Link: 24859147
Variant Present in the following documents:
  • Main text
  • pone.0098182.pdf
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: DNMT1: H97R; rs16999593
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 2
View BVdb publication page



Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Journal Of Clinical Neurology (Seoul, Korea)
Park, Jin J; Hyun, Young Se YS; Kim, Ye Jin YJ; Nam, Soo Hyun SH; Kim, Sung-Hee SH; Hong, Young Bin YB; Park, Jin-Mo JM; Chung, Ki Wha KW; Choi, Byung-Ok BO
Publication Date: 2013-10

Variant appearance in text: DNMT1: H97R; rs16999593
PubMed Link: 24285972
Variant Present in the following documents:
  • jcn-9-283.pdf
View BVdb publication page



DNMT1 genetic polymorphisms affect breast cancer risk in the central European Caucasian population.

Clinical Epigenetics
Kullmann, Kathrin K; Deryal, Mustafa M; Ong, Mei Fang MF; Schmidt, Werner W; Mahlknecht, Ulrich U
Publication Date: 2013-05-02

Variant appearance in text: rs16999593
PubMed Link: 23638630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of the DNA methyltransferase 1 associated with reduced risks of Helicobacter pylori infection and increased risks of gastric atrophy.

Plos One
Jiang, Jing J; Jia, Zhifang Z; Cao, Donghui D; Jin, Mei-Shan MS; Kong, Fei F; Suo, Jian J; Cao, Xueyuan X
Publication Date: 2012

Variant appearance in text: DNMT1: His97Arg; rs16999593
PubMed Link: 23049933
Variant Present in the following documents:
  • Main text
  • pone.0046058.pdf
View BVdb publication page



Association of polymorphisms in DNMT1, DNMT3A, DNMT3B, MTHFR and MTRR genes with global DNA methylation levels and prognosis of autoimmune thyroid disease.

Clinical And Experimental Immunology
Arakawa, Y Y; Watanabe, M M; Inoue, N N; Sarumaru, M M; Hidaka, Y Y; Iwatani, Y Y
Publication Date: 2012-11

Variant appearance in text: rs16999593
PubMed Link: 23039890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk-association of DNA methyltransferases polymorphisms with gastric cancer in the Southern Chinese population.

International Journal Of Molecular Sciences
Yang, Xue-Xi XX; He, Xuan-Qiu XQ; Li, Fen-Xia FX; Wu, Ying-Song YS; Gao, Yang Y; Li, Ming M
Publication Date: 2012

Variant appearance in text: DNMT: His97Arg; rs16999593
PubMed Link: 22942708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk-association of DNA methyltransferases polymorphisms with gastric cancer in the Southern Chinese population.

International Journal Of Molecular Sciences
Yang, Xue-Xi XX; He, Xuan-Qiu XQ; Li, Fen-Xia FX; Wu, Ying-Song YS; Gao, Yang Y; Li, Ming M
Publication Date: 2012

Variant appearance in text: DNMT: His97Arg; rs16999593
PubMed Link: 22942708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies.

Epigenetics & Chromatin
Yuen, Ryan Kc RK; Jiang, Ruby R; Peñaherrera, Maria S MS; McFadden, Deborah E DE; Robinson, Wendy P WP
Publication Date: 2011-07-13

Variant appearance in text: rs16999593
PubMed Link: 21749726
Variant Present in the following documents:
  • Main text
  • 1756-8935-4-10.pdf
View BVdb publication page



Polymorphisms in arsenic(+III oxidation state) methyltransferase (AS3MT) predict gene expression of AS3MT as well as arsenic metabolism.

Environmental Health Perspectives
Engström, Karin K; Vahter, Marie M; Mlakar, Simona Jurkovic SJ; Concha, Gabriela G; Nermell, Barbro B; Raqib, Rubhana R; Cardozo, Alejandro A; Broberg, Karin K
Publication Date: 2011-02

Variant appearance in text: rs16999593
PubMed Link: 21247820
Variant Present in the following documents:
  • Main text
  • ehp-119-182.pdf
View BVdb publication page



Two-stage case-control study of DNMT-1 and DNMT-3B gene variants and breast cancer risk.

Breast Cancer Research And Treatment
Ye, Chuanzhong C; Beeghly-Fadiel, Alicia A; Lu, Wei W; Long, Jirong J; Shu, Xiao Ou XO; Gao, Yu-Tang YT; Zheng, Wei W; Cai, Qiuyin Q
Publication Date: 2010-06

Variant appearance in text: rs16999593
PubMed Link: 19798569
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic significance of folate metabolism polymorphisms for lung cancer.

British Journal Of Cancer
Matakidou, A A; El Galta, R R; Rudd, M F MF; Webb, E L EL; Bridle, H H; Eisen, T T; Houlston, R S RS
Publication Date: 2007-07-16

Variant appearance in text: DNMT1: His97Arg
PubMed Link: 17533396
Variant Present in the following documents:
  • Main text
  • 6603830a.pdf
View BVdb publication page