Publications:

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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: rs2241531

PubMed Link: 36950137

Variant Present in the following documents:

• Main text
• fgene-14-1112388.pdf

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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: rs2241531

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

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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: rs2241531

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Polymorphisms in Enzymes Involved in One-Carbon Metabolism and Anti-epileptic Drug Monotherapy on Homocysteine Metabolism in Patients With Epilepsy.

Frontiers In Neurology

Zhu, Shaofang S; Ni, Guanzhong G; Sui, Lisen L; Zhao, Yiran Y; Zhang, Xiaoxu X; Dai, Qilin Q; Chen, Aohan A; Lin, Wanrong W; Li, Yinchao Y; Huang, Min M; Zhou, Liemin L

Publication Date: 2021

Variant appearance in text: rs2241531

PubMed Link: 34177787

Variant Present in the following documents:

• Main text
• fneur-12-683275.pdf

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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: rs2241531

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: rs2241531

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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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: rs2241531

PubMed Link: 29500370

Variant Present in the following documents:

• 41598_2018_22231_MOESM1_ESM.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2241531

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genome-wide association study identifies 8p21.3 associated with persistent hepatitis B virus infection among Chinese.

Nature Communications

Li, Yuanfeng Y; Si, Lanlan L; Zhai, Yun Y; Hu, Yanling Y; Hu, Zhibin Z; Bei, Jin-Xin JX; Xie, Bobo B; Ren, Qian Q; Cao, Pengbo P; Yang, Fei F; Song, Qingfeng Q; Bao, Zhiyu Z; Zhang, Haitao H; Han, Yuqing Y; Wang, Zhifu Z; Chen, Xi X; Xia, Xia X; Yan, Hongbo H; Wang, Rui R; Zhang, Ying Y; Gao, Chengming C; Meng, Jinfeng J; Tu, Xinyi X; Liang, Xinqiang X; Cui, Ying Y; Liu, Ying Y; Wu, Xiaopan X; Li, Zhuo Z; Wang, Huifen H; Li, Zhaoxia Z; Hu, Bo B; He, Minghui M; Gao, Zhibo Z; Xu, Xiaobing X; Ji, Hongzan H; Yu, Chaohui C; Sun, Yi Y; Xing, Baocai B; Yang, Xiaobo X; Zhang, Haiying H; Tan, Aihua A; Wu, Chunlei C; Jia, Weihua W; Li, Shengping S; Zeng, Yi-Xin YX; Shen, Hongbing H; He, Fuchu F; Mo, Zengnan Z; Zhang, Hongxing H; Zhou, Gangqiao G

Publication Date: 2016-05-31

Variant appearance in text: rs2241531

PubMed Link: 27244555

Variant Present in the following documents:

• ncomms11664-s1.pdf

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs2241531

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: rs2241531

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

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Influence of DNMT genotype on global and site specific DNA methylation patterns in neonates and pregnant women.

Plos One

Potter, Catherine C; McKay, Jill J; Groom, Alexandra A; Ford, Dianne D; Coneyworth, Lisa L; Mathers, John C JC; Relton, Caroline L CL

Publication Date: 2013

Variant appearance in text: rs2241531

PubMed Link: 24098518

Variant Present in the following documents:

• Main text

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Plasma S-adenosylmethionine, DNMT polymorphisms, and peripheral blood LINE-1 methylation among healthy Chinese adults in Singapore.

Bmc Cancer

Inoue-Choi, Maki M; Nelson, Heather H HH; Robien, Kim K; Arning, Erland E; Bottiglieri, Teodoro T; Koh, Woon-Puay WP; Yuan, Jian-Min JM

Publication Date: 2013-08-17

Variant appearance in text: rs2241531

PubMed Link: 23957506

Variant Present in the following documents:

• Main text

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DNMT1, DNMT3A and DNMT3B gene variants in relation to ovarian cancer risk in the Polish population.

Molecular Biology Reports

Mostowska, Adrianna A; Sajdak, Stefan S; Pawlik, Piotr P; Lianeri, Margarita M; Jagodzinski, Paweł P PP

Publication Date: 2013-08

Variant appearance in text: rs2241531

PubMed Link: 23666104

Variant Present in the following documents:

• Main text

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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: rs2241531

PubMed Link: 23638630

Variant Present in the following documents:

• Main text

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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: rs2241531

PubMed Link: 23049933

Variant Present in the following documents:

• Main text
• pone.0046058.pdf

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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: rs2241531

PubMed Link: 19798569

Variant Present in the following documents:

• Main text

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Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics

Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,

Publication Date: 2007-03-16

Variant appearance in text: rs2241531

PubMed Link: 17367212

Variant Present in the following documents:

View BVdb publication page

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