Publications:

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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: MTRR: H595Y

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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Interactions of SNPs in Folate Metabolism Related Genes on Prostate Cancer Aggressiveness in European Americans and African Americans.

Cancers

Lin, Hui-Yi HY; Steck, Susan E SE; Sarkar, Indrani I; Fontham, Elizabeth T H ETH; Diekman, Alan A; Rogers, Lora J LJ; Ratliff, Calvin T CT; Bensen, Jeannette T JT; Mohler, James L JL; Su, L Joseph LJ

Publication Date: 2023-03-10

Variant appearance in text: rs10380

PubMed Link: 36980585

Variant Present in the following documents:

• Main text
• cancers-15-01699.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

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: rs10380

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival.

Nutrients

Wang, Yu Y; Du, Meizhi M; Vallis, Jillian J; Shariati, Matin M; Parfrey, Patrick S PS; Mclaughlin, John R JR; Wang, Peizhong Peter PP; Zhu, Yun Y

Publication Date: 2022-11-01

Variant appearance in text: rs10380

PubMed Link: 36364857

Variant Present in the following documents:

• nutrients-14-04594.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: MTRR: H595Y

PubMed Link: 36241656

Variant Present in the following documents:

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

View BVdb publication page

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A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools.

Scientific Reports

Dutta, Tithi T; Mitra, Sayantan S; Saha, Arpan A; Ganguly, Kausik K; Pyne, Tushar T; Sengupta, Mainak M

Publication Date: 2022-08-25

Variant appearance in text: rs10380

PubMed Link: 36008553

Variant Present in the following documents:

• 41598_2022_18766_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Genome-Wide Association Study of Partial Resistance to P. sojae in Wild Soybeans from Heilongjiang Province, China.

Current Issues In Molecular Biology

Li, Wei W; Liu, Miao M; Lai, Yong-Cai YC; Liu, Jian-Xin JX; Fan, Chao C; Yang, Guang G; Wang, Ling L; Liang, Wen-Wei WW; Di, Shu-Feng SF; Yu, De-Yue DY; Bi, Ying-Dong YD

Publication Date: 2022-07-17

Variant appearance in text: rs10380

PubMed Link: 35877445

Variant Present in the following documents:

• cimb-44-00221.pdf

View BVdb publication page

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Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.

Genes

Mohd-Zin, Siti Waheeda SW; Tan, Amelia Cheng Wei ACW; Atroosh, Wahib M WM; Thong, Meow-Keong MK; Azizi, Abu Bakar AB; Greene, Nicholas D E NDE; Abdul-Aziz, Noraishah Mydin NM

Publication Date: 2022-05-26

Variant appearance in text: rs10380

PubMed Link: 35741713

Variant Present in the following documents:

• Main text
• genes-13-00952.pdf

View BVdb publication page

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MTRR rs1532268 polymorphism and gastric cancer risk: evidence from a meta-analysis.

The Journal Of International Medical Research

Zhong, Guping G; Luo, Xiaojin X; Li, Ji J; Liao, Yuanhang Y; Gui, Guan G; Sheng, Jianwen J

Publication Date: 2022-05

Variant appearance in text: rs10380

PubMed Link: 35579185

Variant Present in the following documents:

• Main text
• 10.1177_03000605221097486.pdf

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: MTRR: His595Tyr; rs10380

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: MTRR: 1783C>T; H595Y; rs10380

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: MTRR: 1783C>T; H595Y; rs10380

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, 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: MTRR: H595Y; rs10380

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 10
• CTM2-11-e285-s003.xlsx, sheet 20

View BVdb publication page

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Characterization of a Four-Component Regulatory System Controlling Bacteriocin Production in Streptococcus gallolyticus.

Mbio

Proutière, Alexis A; du Merle, Laurence L; Périchon, Bruno B; Varet, Hugo H; Gominet, Myriam M; Trieu-Cuot, Patrick P; Dramsi, Shaynoor S

Publication Date: 2021-01-05

Variant appearance in text: rs10380

PubMed Link: 33402539

Variant Present in the following documents:

• Main text
• mbio.03187-20.pdf

View BVdb publication page

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Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology

Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L

Publication Date: 2020

Variant appearance in text: rs10380

PubMed Link: 33195260

Variant Present in the following documents:

• Main text
• fcell-08-592271.pdf

View BVdb publication page

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Pharmacogenetics of Antipsychotic Drug Treatment: Update and Clinical Implications.

Molecular Neuropsychiatry

Yoshida, Kazunari K; Müller, Daniel J DJ

Publication Date: 2020-04

Variant appearance in text: rs10380

PubMed Link: 32399466

Variant Present in the following documents:

• Main text

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: MTRR: His595Tyr

PubMed Link: 31894249

Variant Present in the following documents:

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

View BVdb publication page

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Gene-by-gene interactions associated with the risk of conotruncal heart defects.

Molecular Genetics & Genomic Medicine

Lyu, Chen C; Webber, Daniel M DM; MacLeod, Stewart L SL; Hobbs, Charlotte A CA; Li, Ming M; ,

Publication Date: 2020-01

Variant appearance in text: rs10380

PubMed Link: 31851787

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: MTRR: 1783C>T; His595Tyr; rs10380

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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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s005.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: MTRR: H595Y; rs10380

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

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: rs10380

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Polymorphisms in folic acid metabolism genes do not associate with cancer cachexia in Japanese gastrointestinal patients.

Nagoya Journal Of Medical Science

Morishita, Takuto T; Hishida, Asahi A; Okugawa, Yoshinaga Y; Morimoto, Yuuki Y; Shirai, Yumiko Y; Okamoto, Kyoko K; Momokita, Sachiko S; Ogawa, Aki A; Tanaka, Koji K; Nishikawa, Ryutaro R; Toiyama, Yuji Y; Inoue, Yasuhiro Y; Sakurai, Hiroyuki H; Urata, Hisashi H; Tanaka, Motoyoshi M; Miki, Chikao C

Publication Date: 2018-11

Variant appearance in text: MTRR: His595Tyr; rs10380

PubMed Link: 30587867

Variant Present in the following documents:

• Main text
• 2186-3326-80-0529.pdf

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: rs10380

PubMed Link: 30214008

Variant Present in the following documents:

• 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: MTRR: 1783C>T; H595Y; rs10380

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

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The role of the folate pathway in pancreatic cancer risk.

Plos One

Chittiboyina, Shirisha S; Chen, Zhongxue Z; Chiorean, E Gabriela EG; Kamendulis, Lisa M LM; Hocevar, Barbara A BA

Publication Date: 2018

Variant appearance in text: MTRR: H595Y

PubMed Link: 29474406

Variant Present in the following documents:

• Main text

View BVdb publication page

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An update on vitamin B12-related gene polymorphisms and B12 status.

Genes & Nutrition

Surendran, S S; Adaikalakoteswari, A A; Saravanan, P P; Shatwaan, I A IA; Lovegrove, J A JA; Vimaleswaran, K S KS

Publication Date: 2018

Variant appearance in text: rs10380

PubMed Link: 29445423

Variant Present in the following documents:

• Main text
• 12263_2018_Article_591.pdf

View BVdb publication page

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Correlation between global methylation level of peripheral blood leukocytes and serum C reactive protein level modified by MTHFR polymorphism: a cross-sectional study.

Bmc Cancer

Nojima, Masanori M; Iwasaki, Motoki M; Kasuga, Yoshio Y; Yokoyama, Shiro S; Onuma, Hiroshi H; Nishimura, Hideki H; Kusama, Ritsu R; Yoshida, Teruhiko T; Tsugane, Shoichiro S

Publication Date: 2018-02-13

Variant appearance in text: rs10380

PubMed Link: 29439678

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs10380

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Serum folate concentration and the incidence of lung cancer.

Plos One

Durda, Katarzyna K; Kąklewski, Krzysztof K; Gupta, Satish S; Szydłowski, Michał M; Baszuk, Piotr P; Jaworska-Bieniek, Katarzyna K; Sukiennicki, Grzegorz G; Kaczmarek, Katarzyna K; Waloszczyk, Piotr P; Narod, Steven S; Lubiński, Jan J; Jakubowska, Anna A

Publication Date: 2017

Variant appearance in text: rs10380

PubMed Link: 28493936

Variant Present in the following documents:

• Main text
• pone.0177441.pdf

View BVdb publication page

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Associations between polymorphisms in folate-metabolizing genes and pancreatic cancer risk in Japanese subjects.

Bmc Gastroenterology

Nakao, Haruhisa H; Wakai, Kenji K; Ishii, Norimitsu N; Kobayashi, Yuji Y; Ito, Kiyoaki K; Yoneda, Masashi M; Mori, Mitsuru M; Nojima, Masanori M; Kimura, Yasutoshi Y; Endo, Takao T; Matsuyama, Masato M; Ishii, Hiroshi H; Ueno, Makoto M; Kuruma, Sawako S; Egawa, Naoto N; Matsuo, Keitaro K; Hosono, Satoyo S; Ohkawa, Shinichi S; Nakamura, Kozue K; Tamakoshi, Akiko A; Takahashi, Mami M; Shimada, Kazuaki K; Nishiyama, Takeshi T; Kikuchi, Shogo S; Lin, Yingsong Y

Publication Date: 2016-07-29

Variant appearance in text: MTRR: His595Tyr

PubMed Link: 27473058

Variant Present in the following documents:

• 12876_2016_Article_503.pdf

View BVdb publication page

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Folate status, folate-related genes and serum miR-21 expression: Implications for miR-21 as a biomarker.

Bba Clinical

Beckett, Emma Louise EL; Martin, Charlotte C; Choi, Jeong Hwa JH; King, Katrina K; Niblett, Suzanne S; Boyd, Lyndell L; Duesing, Konsta K; Yates, Zoe Z; Veysey, Martin M; Lucock, Mark M

Publication Date: 2015-12

Variant appearance in text: rs10380

PubMed Link: 26674922

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Methylation diet and methyl group genetics in risk for adenomatous polyp occurrence.

Bba Clinical

Lucock, Mark M; Yates, Zoë Z; Martin, Charlotte C; Choi, Jeong-Hwa JH; Beckett, Emma E; Boyd, Lyndell L; LeGras, Kathleen K; Ng, Xiaowei X; Skinner, Virginia V; Wai, Ron R; Kho, Jeremy J; Roach, Paul P; Veysey, Martin M

Publication Date: 2015-06

Variant appearance in text: rs10380

PubMed Link: 26673393

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs10380

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis.

International Journal Of Molecular Sciences

Ravegnini, Gloria G; Nannini, Margherita M; Sammarini, Giulia G; Astolfi, Annalisa A; Biasco, Guido G; Pantaleo, Maria A MA; Hrelia, Patrizia P; Angelini, Sabrina S

Publication Date: 2015-07-09

Variant appearance in text: rs10380

PubMed Link: 26184165

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs10380

PubMed Link: 26108676

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation associated with hypersensitivity to mercury.

Toxicology International

Austin, David William DW; Spolding, Briana B; Gondalia, Shakuntla S; Shandley, Kerrie K; Palombo, Enzo A EA; Knowles, Simon S; Walder, Ken K

Publication Date: 2014

Variant appearance in text: rs10380

PubMed Link: 25948960

Variant Present in the following documents:

• TI-21-236.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: MTRR: H595Y; rs10380

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 5

View BVdb publication page

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Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.

European Journal Of Human Genetics : Ejhg

Angelini, Sabrina S; Ravegnini, Gloria G; Nannini, Margherita M; Bermejo, Justo Lorenzo JL; Musti, Muriel M; Pantaleo, Maria A MA; Fumagalli, Elena E; Venturoli, Nicola N; Palassini, Elena E; Consolini, Nicola N; Casali, Paolo G PG; Biasco, Guido G; Hrelia, Patrizia P

Publication Date: 2015-06

Variant appearance in text: rs10380

PubMed Link: 25227144

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Global methylation levels in peripheral blood leukocyte DNA by LUMA and breast cancer: a case-control study in Japanese women.

British Journal Of Cancer

Kuchiba, A A; Iwasaki, M M; Ono, H H; Kasuga, Y Y; Yokoyama, S S; Onuma, H H; Nishimura, H H; Kusama, R R; Tsugane, S S; Yoshida, T T

Publication Date: 2014-05-27

Variant appearance in text: rs10380

PubMed Link: 24786600

Variant Present in the following documents:

• Main text
• bjc2014223a.pdf

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Contribution of environment and genetics to pancreatic cancer susceptibility.

Plos One

Hocevar, Barbara A BA; Kamendulis, Lisa M LM; Pu, Xinzhu X; Perkins, Susan M SM; Wang, Zheng-Yu ZY; Johnston, Erica L EL; DeWitt, John M JM; Li, Lang L; Loehrer, Patrick J PJ; Klaunig, James E JE; Chiorean, E Gabriela EG

Publication Date: 2014

Variant appearance in text: MTRR: H595Y

PubMed Link: 24651674

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• Main text
• pone.0090052.pdf

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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: MTRR: H595Y; rs10380

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study.

Carcinogenesis

Deroo, Lisa A LA; Bolick, Sophia C E SC; Xu, Zongli Z; Umbach, David M DM; Shore, David D; Weinberg, Clarice R CR; Sandler, Dale P DP; Taylor, Jack A JA

Publication Date: 2014-02

Variant appearance in text: MTRR: His595Tyr; rs10380

PubMed Link: 24130171

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Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.

Plos One

Lautner-Csorba, Orsolya O; Gézsi, András A; Erdélyi, Dániel J DJ; Hullám, Gábor G; Antal, Péter P; Semsei, Ágnes F ÁF; Kutszegi, Nóra N; Kovács, Gábor G; Falus, András A; Szalai, Csaba C

Publication Date: 2013

Variant appearance in text: rs10380

PubMed Link: 23940529

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One-carbon metabolism factors and leukocyte telomere length.

The American Journal Of Clinical Nutrition

Liu, Jason J JJ; Prescott, Jennifer J; Giovannucci, Edward E; Hankinson, Susan E SE; Rosner, Bernard B; De Vivo, Immaculata I

Publication Date: 2013-04

Variant appearance in text: rs10380

PubMed Link: 23446900

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One-carbon metabolism factors and endometrial cancer risk.

British Journal Of Cancer

Liu, J J JJ; Hazra, A A; Giovannucci, E E; Hankinson, S E SE; Rosner, B B; De Vivo, I I

Publication Date: 2013-01-15

Variant appearance in text: rs10380

PubMed Link: 23299529

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Association Study between Folate Pathway Gene Single Nucleotide Polymorphisms and Gastric Cancer in Koreans.

Genomics & Informatics

Yoo, Jae-Young JY; Kim, Sook-Young SY; Hwang, Jung-Ah JA; Hong, Seung-Hyun SH; Shin, Aesun A; Choi, Il Ju IJ; Lee, Yeon-Su YS

Publication Date: 2012-09

Variant appearance in text: MTRR: H595Y; rs10380

PubMed Link: 23166529

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• Main text
• gni-10-184.pdf

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Gene-diet-interactions in folate-mediated one-carbon metabolism modify colon cancer risk.

Molecular Nutrition & Food Research

Liu, Amy Y AY; Scherer, Dominique D; Poole, Elizabeth E; Potter, John D JD; Curtin, Karen K; Makar, Karen K; Slattery, Martha L ML; Caan, Bette J BJ; Ulrich, Cornelia M CM

Publication Date: 2013-04

Variant appearance in text: rs10380

PubMed Link: 22961839

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Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA.

Cancer Science

Ono, Hiroe H; Iwasaki, Motoki M; Kuchiba, Aya A; Kasuga, Yoshio Y; Yokoyama, Shiro S; Onuma, Hiroshi H; Nishimura, Hideki H; Kusama, Ritsu R; Ohnami, Sumiko S; Sakamoto, Hiromi H; Yoshida, Teruhiko T; Tsugane, Shoichiro S

Publication Date: 2012-12

Variant appearance in text: rs10380

PubMed Link: 22957669

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Association of postmenopausal endogenous sex hormones with global methylation level of leukocyte DNA among Japanese women.

Bmc Cancer

Iwasaki, Motoki M; Ono, Hiroe H; Kuchiba, Aya A; Kasuga, Yoshio Y; Yokoyama, Shiro S; Onuma, Hiroshi H; Nishimura, Hideki H; Kusama, Ritsu R; Yoshida, Teruhiko T; Tsugane, Shoichiro S

Publication Date: 2012-07-29

Variant appearance in text: rs10380

PubMed Link: 22839213

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Development and characterization of a novel human Waldenström macroglobulinemia cell line: RPCI-WM1, Roswell Park Cancer Institute - Waldenström Macroglobulinemia 1.

Leukemia & Lymphoma

Chitta, Kasyapa S KS; Paulus, Aneel A; Ailawadhi, Sikander S; Foster, Barbara A BA; Moser, Michael T MT; Starostik, Petr P; Masood, Aisha A; Sher, Taimur T; Miller, Kena C KC; Iancu, Dan M DM; Conroy, Jeffrey J; Nowak, Norma J NJ; Sait, Sheila N SN; Personett, David A DA; Coleman, Morton M; Furman, Richard R RR; Martin, Peter P; Ansell, Stephen M SM; Lee, Kelvin K; Chanan-Khan, Asher A AA

Publication Date: 2013-02

Variant appearance in text: rs10380

PubMed Link: 22812491

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