Publications:

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Development and validation of an inflammatory response-related gene and clinical factor-based signature for predicting prognosis in gastric cancer.

Journal Of Gastrointestinal Oncology

Li, Suihui S; Zhu, Jinfeng J; Zhu, Tengfei T; Xu, Yu Y; Chen, Wenxi W; Zhou, Qiaoxia Q; Wang, Guoqiang G; Li, Leo L; Han, Yusheng Y; Xu, Chunwei C; Wang, Wenxian W; Cai, Shangli S; Xu, Ruilian R; Shao, Yu Y

Publication Date: 2023-04-29

Variant appearance in text: rs2228612

PubMed Link: 37201041

Variant Present in the following documents:

• Main text
• jgo-14-02-599.pdf

View BVdb publication page

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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: 979A>G; Ile327Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: I327V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs2228612

PubMed Link: 36980848

Variant Present in the following documents:

• Main text
• genes-14-00576.pdf

View BVdb publication page

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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: rs2228612

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: DNMT1: 979A>G; I327V; rs2228612

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs2228612

PubMed Link: 36394275

Variant Present in the following documents:

• BSR-2022-0998_supp.pdf

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: DNMT1: I327V; rs2228612

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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GSK3B Overexpression Alleviates Posttraumatic Osteoarthritis in Mice by Promoting DNMT1-Mediated Hypermethylation of NR4A3 Promoter.

Disease Markers

Lv, Zhou Z; Sun, Deping D; Li, Xin X; Wu, Gang G

Publication Date: 2022

Variant appearance in text: rs2228612

PubMed Link: 35747513

Variant Present in the following documents:

• DM2022-4185489.pdf

View BVdb publication page

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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: rs2228612

PubMed Link: 35620052

Variant Present in the following documents:

• Main text
• fcell-10-916725.pdf

View BVdb publication page

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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: rs2228612

PubMed Link: 35548064

Variant Present in the following documents:

• Main text
• pgpm-15-441.pdf

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: DNMT1: Ile327Val; rs2228612

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage

Young, D A DA; Barter, M J MJ; Soul, J J

Publication Date: 2021-11-11

Variant appearance in text: rs2228612

PubMed Link: 34774787

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage

Young, D A DA; Barter, M J MJ; Soul, J J

Publication Date: 2022-02

Variant appearance in text: rs2228612

PubMed Link: 34774787

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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AHR-dependent genes and response to MTX therapy in rheumatoid arthritis patients.

The Pharmacogenomics Journal

Wajda, Anna A; Walczuk, Ewa E; Stypińska, Barbara B; Lach, Jakub J; Yermakovich, Danat D; Sivitskaya, Larysa L; Romanowska-Próchnicka, Katarzyna K; Wysocki, Tomasz T; Jarończyk, Małgorzata M; Paradowska-Gorycka, Agnieszka A

Publication Date: 2021-10

Variant appearance in text: DNMT1: 979A>G; rs2228612

PubMed Link: 34302046

Variant Present in the following documents:

• Main text
• 41397_2021_Article_238.pdf

View BVdb publication page

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Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation.

Cancers

Takahashi, Hidekazu H; Okayama, Naoko N; Yamaguchi, Natsu N; Nomura, Moe M; Miyahara, Yuta Y; Mahbub, M H MH; Hase, Ryosuke R; Morishima, Yasuo Y; Suehiro, Yutaka Y; Yamasaki, Takahiro T; Tamada, Koji K; Takahashi, Satoshi S; Tojo, Arinobu A; Tanabe, Tsuyoshi T

Publication Date: 2021-06-01

Variant appearance in text: rs2228612

PubMed Link: 34206082

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epithelial-Mesenchymal Transition Associated with Head and Neck Squamous Cell Carcinomas: A Review.

Cancers

González-González, Rogelio R; Ortiz-Sarabia, Gamaliel G; Molina-Frechero, Nelly N; Salas-Pacheco, José Manuel JM; Salas-Pacheco, Sergio Manuel SM; Lavalle-Carrasco, Jesús J; López-Verdín, Sandra S; Tremillo-Maldonado, Omar O; Bologna-Molina, Ronell R

Publication Date: 2021-06-17

Variant appearance in text: rs2228612

PubMed Link: 34204259

Variant Present in the following documents:

• Main text
• cancers-13-03027.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: DNMT1: 979A>G; I327V; rs2228612

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: DNMT1: I327V; rs2228612

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: I327V; rs2228612

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 19
• CTM2-11-e285-s003.xlsx, sheet 20

View BVdb publication page

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EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports

Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ

Publication Date: 2021-01-15

Variant appearance in text: DNMT1: I327V; rs2228612

PubMed Link: 33452395

Variant Present in the following documents:

• 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Decoding the Genetic Alterations in Genes of DNMT Family (DNA Methyl-Transferase) and their Association with Head and Neck Squamous Cell Carcinoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Fathima, Tahreem T; Arumugam, Paramasivam P; Girija As, Smiline S; Priyadharsini, J Vijayashree JV

Publication Date: 2020-12-01

Variant appearance in text: rs2228612

PubMed Link: 33369458

Variant Present in the following documents:

• Main text
• APJCP-21-3605.pdf

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: DNMT1: I327V

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Transcriptional regulators and alterations that drive melanoma initiation and progression.

Oncogene

Gupta, Romi R; Janostiak, Radoslav R; Wajapeyee, Narendra N

Publication Date: 2020-11

Variant appearance in text: rs2228612

PubMed Link: 33024276

Variant Present in the following documents:

• Main text
• 41388_2020_Article_1490.pdf

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: DNMT1: I327V; rs2228612

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: DNMT1: I327V

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_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: DNMT1: 979A>G; I327V; rs2228612

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: DNMT1: 979A>G; I327V; rs2228612

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: DNMT1: Ile327Val

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 1

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: DNMT1: 979A>G; Ile327Val; rs2228612

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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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: 979A>G; Ile327Val

PubMed Link: 31205508

Variant Present in the following documents:

• Supplemental_Table_3.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2228612

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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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: rs2228612

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs2228612

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: DNMT1: I327V; rs2228612

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: DNMT1: 979A>G; Ile327Val; rs2228612

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Clinical Epigenetics

Dagar, Vinod V; Hutchison, Wendy W; Muscat, Andrea A; Krishnan, Anita A; Hoke, David D; Buckle, Ashley A; Siswara, Priscillia P; Amor, David J DJ; Mann, Jeffrey J; Pinner, Jason J; Colley, Alison A; Wilson, Meredith M; Sachdev, Rani R; McGillivray, George G; Edwards, Matthew M; Kirk, Edwin E; Collins, Felicity F; Jones, Kristi K; Taylor, Juliet J; Hayes, Ian I; Thompson, Elizabeth E; Barnett, Christopher C; Haan, Eric E; Freckmann, Mary-Louise ML; Turner, Anne A; White, Susan S; Kamien, Ben B; Ma, Alan A; Mackenzie, Fiona F; Baynam, Gareth G; Kiraly-Borri, Cathy C; Field, Michael M; Dudding-Byth, Tracey T; Algar, Elizabeth M EM

Publication Date: 2018-08-30

Variant appearance in text: DNMT1: 979A>G; Ile327Val

PubMed Link: 30165906

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2228612

PubMed Link: 30111769

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29648.pdf

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: DNMT1: 979A>G; I327V; rs2228612

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: DNMT1: 979A>G; Ile327Val; rs2228612

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

View BVdb publication page

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Common variants of ARID1A and KAT2B are associated with obesity in Indian adolescents.

Scientific Reports

Giri, Anil K AK; Parekatt, Vaisak V; Dwivedi, Om Prakash OP; Banerjee, Priyanka P; Bandesh, Khushdeep K; Prasad, Gauri G; Tandon, Nikhil N; Bharadwaj, Dwaipayan D

Publication Date: 2018-03-02

Variant appearance in text: DNMT1: Ile327Val

PubMed Link: 29500370

Variant Present in the following documents:

• 41598_2018_22231_MOESM1_ESM.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs2228612

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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Epigenetics and Autoimmune Thyroid Diseases.

Frontiers In Endocrinology

Coppedè, Fabio F

Publication Date: 2017

Variant appearance in text: rs2228612

PubMed Link: 28706507

Variant Present in the following documents:

• Main text

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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: rs2228612

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs2228612

PubMed Link: 28473984

Variant Present in the following documents:

• Main text
• BMRI2017-3971259.pdf

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: DNMT1: I327V

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

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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: Ile327Val; rs2228612

PubMed Link: 27087738

Variant Present in the following documents:

• Main text
• DM2016-8578064.pdf

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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: rs2228612

PubMed Link: 26941097

Variant Present in the following documents:

• Main text

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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: rs2228612

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Mazumdar, Maitreyi M; Valeri, Linda L; Rodrigues, Ema G EG; Ibne Hasan, Md Omar Sharif MO; Hamid, Rezina R; Paul, Ligi L; Selhub, Jacob J; Silva, Fareesa F; Mostofa, Md Golam MG; Quamruzzaman, Quazi Q; Rahman, Mahmuder M; Christiani, David C DC

Publication Date: 2015-09

Variant appearance in text: rs2228612

PubMed Link: 26250961

Variant Present in the following documents:

• Main text

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Folate-mediated one-carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study.

Cancer

Cheng, Ting-Yuan David TY; Makar, Karen W KW; Neuhouser, Marian L ML; Miller, Joshua W JW; Song, Xiaoling X; Brown, Elissa C EC; Beresford, Shirley A A SA; Zheng, Yingye Y; Poole, Elizabeth M EM; Galbraith, Rachel L RL; Duggan, David J DJ; Habermann, Nina N; Bailey, Lynn B LB; Maneval, David R DR; Caudill, Marie A MA; Toriola, Adetunji T AT; Green, Ralph R; Ulrich, Cornelia M CM

Publication Date: 2015-10-15

Variant appearance in text: rs2228612

PubMed Link: 26108676

Variant Present in the following documents:

• Main text

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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: rs2228612

PubMed Link: 25768001

Variant Present in the following documents:

• Main text
• ehp.1408909.pdf

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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: DNMT1: I327V; rs2228612

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Single nucleotide polymorphisms of one-carbon metabolism and cancers of the esophagus, stomach, and liver in a Chinese population.

Plos One

Chang, Shen-Chih SC; Chang, Po-Yin PY; Butler, Brendan B; Goldstein, Binh Y BY; Mu, Lina L; Cai, Lin L; You, Nai-Chieh Y NC; Baecker, Aileen A; Yu, Shun-Zhang SZ; Heber, David D; Lu, Qing-Yi QY; Li, Liming L; Greenland, Sander S; Zhang, Zuo-Feng ZF

Publication Date: 2014

Variant appearance in text: rs2228612

PubMed Link: 25337902

Variant Present in the following documents:

• Main text
• pone.0109235.pdf

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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: DNMT1: Ile327Val

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs2228612

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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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: rs2228612

PubMed Link: 24859147

Variant Present in the following documents:

• Main text
• pone.0098182.pdf

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