CBS c.699C>T ;(p.Y233=)

Variant ID: 21-44485350-G-A

NM_000071.2(CBS):c.699C>T;(p.Y233=)

This variant was identified in 58 publications

View GRCh38 version.




Publications:


Folate Related Pathway Gene Analysis Reveals a Novel Metabolic Variant Associated with Alzheimer's Disease with a Change in Metabolic Profile.

Metabolites
Miyan, Jaleel J; Buttercase, Charlotte C; Beswick, Emma E; Miyan, Salma S; Moshkdanian, Ghazaleh G; Naz, Naila N
Publication Date: 2022-05-24

Variant appearance in text: rs234706
PubMed Link: 35736408
Variant Present in the following documents:
  • Main text
  • metabolites-12-00475.pdf
View BVdb publication page



A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics.

Frontiers In Neuroscience
Santos, João Xavier JX; Rasga, Célia C; Marques, Ana Rita AR; Martiniano, Hugo H; Asif, Muhammad M; Vilela, Joana J; Oliveira, Guiomar G; Sousa, Lisete L; Nunes, Ana A; Vicente, Astrid M AM
Publication Date: 2022

Variant appearance in text: rs234706
PubMed Link: 35663546
Variant Present in the following documents:
  • Table_2.xlsx, sheet 6
View BVdb publication page



Role of hydrogen sulfide in subarachnoid hemorrhage.

Cns Neuroscience & Therapeutics
Lu, Dengfeng D; Wang, Lingling L; Liu, Guangjie G; Wang, Shixin S; Wang, Yi Y; Wu, Yu Y; Wang, Jing J; Sun, Xiaoou X
Publication Date: 2022-06

Variant appearance in text: rs234706
PubMed Link: 35315575
Variant Present in the following documents:
  • Main text
  • CNS-28-805.pdf
View BVdb publication page



Homocysteine Plasmatic Concentration in Brain-Injured Neurocritical Care Patients: Systematic Review of Clinical Evidence.

Journal Of Clinical Medicine
Lauretta, Maria Paola MP; Melotti, Rita Maria RM; Sangermano, Corinne C; George, Anneliya Maria AM; Badenes, Rafael R; Bilotta, Federico F
Publication Date: 2022-01-13

Variant appearance in text: rs234706
PubMed Link: 35054087
Variant Present in the following documents:
  • Main text
  • jcm-11-00394.pdf
View BVdb publication page



Homocysteine Plasmatic Concentration in Brain-Injured Neurocritical Care Patients: Systematic Review of Clinical Evidence.

Journal Of Clinical Medicine
Lauretta, Maria Paola MP; Melotti, Rita Maria RM; Sangermano, Corinne C; George, Anneliya Maria AM; Badenes, Rafael R; Bilotta, Federico F
Publication Date: 2022-01-13

Variant appearance in text: rs234706
PubMed Link: 35054087
Variant Present in the following documents:
  • Main text
  • jcm-11-00394.pdf
View BVdb publication page



Molecular Mechanisms of Alcohol-Induced Colorectal Carcinogenesis.

Cancers
Johnson, Caroline H CH; Golla, Jaya Prakash JP; Dioletis, Evangelos E; Singh, Surendra S; Ishii, Momoko M; Charkoftaki, Georgia G; Thompson, David C DC; Vasiliou, Vasilis V
Publication Date: 2021-08-31

Variant appearance in text: rs234706
PubMed Link: 34503214
Variant Present in the following documents:
  • Main text
  • cancers-13-04404.pdf
View BVdb publication page



Genetic factors associated with obesity risks in a Kazakhstani population.

Bmj Nutrition, Prevention & Health
Razbekova, Madina M; Issanov, Alpamys A; Chan, Mei-Yen MY; Chan, Robbie R; Yerezhepov, Dauren D; Kozhamkulov, Ulan U; Akilzhanova, Ainur A; Chan, Chee-Kai CK
Publication Date: 2021

Variant appearance in text: rs234706
PubMed Link: 34308116
Variant Present in the following documents:
  • Main text
  • bmjnph-2020-000139.pdf
View BVdb publication page



Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?

Genes
Tisato, Veronica V; Silva, Juliana A JA; Longo, Giovanna G; Gallo, Ines I; Singh, Ajay V AV; Milani, Daniela D; Gemmati, Donato D
Publication Date: 2021-05-20

Variant appearance in text: rs234706
PubMed Link: 34065323
Variant Present in the following documents:
  • Main text
  • genes-12-00782.pdf
View BVdb publication page



Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.

Pharmaceuticals (Basel, Switzerland)
Roberto, Michela M; Rossi, Alessandro A; Panebianco, Martina M; Pomes, Leda Marina LM; Arrivi, Giulia G; Ierinò, Debora D; Simmaco, Maurizio M; Marchetti, Paolo P; Mazzuca, Federica F
Publication Date: 2021-01-15

Variant appearance in text: rs234706
PubMed Link: 33467633
Variant Present in the following documents:
  • pharmaceuticals-14-00067-s001.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: CBS: 699C>T; Y233Y; rs234706
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: rs234706
PubMed Link: 33195260
Variant Present in the following documents:
  • Main text
  • fcell-08-592271.pdf
View BVdb publication page



ESNR 2020.

Neuroradiology
Publication Date: 2020-10

Variant appearance in text: CBS: 699C>T; Y233Y
PubMed Link: 32975641
Variant Present in the following documents:
  • 234_2020_Article_2534.pdf
View BVdb publication page



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: CBS: 699C>T; Y233Y; rs234706
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: CBS: 699C>T; Tyr233=; rs234706
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics
Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J
Publication Date: 2019-07-01

Variant appearance in text: rs234706
PubMed Link: 31262291
Variant Present in the following documents:
  • 12920_2019_546_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: CBS: 699C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Nitric Oxide and Hydrogen Sulfide Regulation of Ischemic Vascular Growth and Remodeling.

Comprehensive Physiology
Rajendran, Saranya S; Shen, Xinggui X; Glawe, John J; Kolluru, Gopi K GK; Kevil, Christopher G CG
Publication Date: 2019-06-12

Variant appearance in text: rs234706
PubMed Link: 31187898
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: CBS: Y233Y
PubMed Link: 31063268
Variant Present in the following documents:
  • AJMG-179-1260-s007.xlsx, sheet 1
View BVdb publication page



Disturbed homocysteine metabolism is associated with cancer.

Experimental & Molecular Medicine
Hasan, Tauheed T; Arora, Reetika R; Bansal, Aniket Kumar AK; Bhattacharya, Reshmee R; Sharma, Gurumayum Suraj GS; Singh, Laishram Rajendrakumar LR
Publication Date: 2019-02-21

Variant appearance in text: CBS: Y233Y
PubMed Link: 30804341
Variant Present in the following documents:
  • Main text
  • 12276_2019_Article_216.pdf
View BVdb publication page



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: CBS: 699C>T; rs234706
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

Journal Of Thrombosis And Haemostasis : Jth
de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,
Publication Date: 2018-12

Variant appearance in text: rs234706
PubMed Link: 30168256
Variant Present in the following documents:
  • NIHMS1021906-supplement-1.pdf
View BVdb publication page



One-carbon metabolism biomarkers and genetic variants in relation to colorectal cancer risk by KRAS and BRAF mutation status.

Plos One
Myte, Robin R; Gylling, Björn B; Häggström, Jenny J; Schneede, Jörn J; Löfgren-Burström, Anna A; Huyghe, Jeroen R JR; Hallmans, Göran G; Meyer, Klaus K; Johansson, Ingegerd I; Ueland, Per Magne PM; Palmqvist, Richard R; Van Guelpen, Bethany B
Publication Date: 2018

Variant appearance in text: rs234706
PubMed Link: 29694444
Variant Present in the following documents:
  • Main text
  • pone.0196233.pdf
View BVdb publication page



Suboptimal maternal and cord plasma pyridoxal 5' phosphate concentrations are uncommon in a cohort of Canadian pregnant women and newborn infants.

Maternal & Child Nutrition
Plumptre, Lesley L; Masih, Shannon P SP; Sohn, Kyoung-Jin KJ; Kim, Denise D; Visentin, Carly E CE; Ly, Anna A; Berger, Howard H; Croxford, Ruth R; O'Connor, Deborah L DL; Kim, Young-In YI
Publication Date: 2018-01

Variant appearance in text: rs234706
PubMed Link: 28544455
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: CBS: Y233Y; rs234706
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



The Influence of Screening for Precancerous Lesions on Family-Based Genetic Association Tests: An Example of Colorectal Polyps and Cancer.

American Journal Of Epidemiology
Schmit, Stephanie L SL; Figueiredo, Jane C JC; Cortessis, Victoria K VK; Thomas, Duncan C DC
Publication Date: 2015-10-15

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 26306664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retrospective likelihood-based methods for analyzing case-cohort genetic association studies.

Biometrics
Shen, Yuanyuan Y; Cai, Tianxi T; Chen, Yu Y; Yang, Ying Y; Chen, Jinbo J
Publication Date: 2015-12

Variant appearance in text: rs234706
PubMed Link: 26177343
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: CBS: Y233Y; rs234706
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Systems medicine: evolution of systems biology from bench to bedside.

Wiley Interdisciplinary Reviews. Systems Biology And Medicine
Wang, Rui-Sheng RS; Maron, Bradley A BA; Loscalzo, Joseph J
Publication Date: 2015

Variant appearance in text: rs234706
PubMed Link: 25891169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives
Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y
Publication Date: 2015-05

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 25575156
Variant Present in the following documents:
  • ehp.1307883.s001.508.pdf
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: CBS: Y233Y; rs234706
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



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: rs234706
PubMed Link: 24130171
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of one-carbon metabolizing pathway genes and gene-nutrient interaction in the risk of non-Hodgkin lymphoma.

Cancer Causes & Control : Ccc
Li, Qian Q; Lan, Qing Q; Zhang, Yawei Y; Bassig, Bryan A BA; Holford, Theodore R TR; Leaderer, Brian B; Boyle, Peter P; Zhu, Yong Y; Qin, Qin Q; Chanock, Stephen S; Rothman, Nathaniel N; Zheng, Tongzhang T
Publication Date: 2013-10

Variant appearance in text: rs234706
PubMed Link: 23913011
Variant Present in the following documents:
  • Main text
View BVdb publication page



Network-based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits.

Molecular & Cellular Proteomics : Mcp
Sharma, Amitabh A; Gulbahce, Natali N; Pevzner, Samuel J SJ; Menche, Jörg J; Ladenvall, Claes C; Folkersen, Lasse L; Eriksson, Per P; Orho-Melander, Marju M; Barabási, Albert-László AL
Publication Date: 2013-11

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 23882023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between genetic variants in DNA and histone methylation and telomere length.

Plos One
Kim, Sangmi S; Parks, Christine G CG; Xu, Zongli Z; Carswell, Gleta G; DeRoo, Lisa A LA; Sandler, Dale P DP; Taylor, Jack A JA
Publication Date: 2012

Variant appearance in text: rs234706
PubMed Link: 22792358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variant of AMD1 is associated with obesity in urban Indian children.

Plos One
Tabassum, Rubina R; Jaiswal, Alok A; Chauhan, Ganesh G; Dwivedi, Om Prakash OP; Ghosh, Saurabh S; Marwaha, Raman K RK; Tandon, Nikhil N; Bharadwaj, Dwaipayan D
Publication Date: 2012

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 22496743
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel gene-environment interaction involved in endometriosis.

International Journal Of Gynaecology And Obstetrics: The Official Organ Of The International Federation Of Gynaecology And Obstetrics
McCarty, Catherine A CA; Berg, Richard L RL; Welter, Joseph D JD; Kitchner, Terrie E TE; Kemnitz, Joseph W JW
Publication Date: 2012-01

Variant appearance in text: rs234706
PubMed Link: 22024213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers.

Bmc Bioinformatics
Thomas, Philippe E PE; Klinger, Roman R; Furlong, Laura I LI; Hofmann-Apitius, Martin M; Friedrich, Christoph M CM
Publication Date: 2011

Variant appearance in text: rs234706
PubMed Link: 21992066
Variant Present in the following documents:
  • Main text
  • 1471-2105-12-S4-S4.pdf
View BVdb publication page



Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Tilley, Melissa M MM; Northrup, Hope H; Au, Kit Sing KS
Publication Date: 2012-01

Variant appearance in text: rs234706
PubMed Link: 21957013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting diabetic nephropathy using a multifactorial genetic model.

Plos One
Blech, Ilana I; Katzenellenbogen, Mark M; Katzenellenbogen, Alexandra A; Wainstein, Julio J; Rubinstein, Ardon A; Harman-Boehm, Ilana I; Cohen, Joseph J; Pollin, Toni I TI; Glaser, Benjamin B
Publication Date: 2011-04-14

Variant appearance in text: rs234706
PubMed Link: 21533139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology
Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,
Publication Date: 2011

Variant appearance in text: CBS: Tyr233Tyr; rs234706
PubMed Link: 21467728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

American Journal Of Medical Genetics. Part A
Carter, Tonia C TC; Pangilinan, Faith F; Troendle, James F JF; Molloy, Anne M AM; VanderMeer, Julia J; Mitchell, Adam A; Kirke, Peadar N PN; Conley, Mary R MR; Shane, Barry B; Scott, John M JM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2011-01

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 21204206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma vitamins B2, B6, and B12, and related genetic variants as predictors of colorectal cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Eussen, Simone J P M SJ; Vollset, Stein Emil SE; Hustad, Steinar S; Midttun, Øivind Ø; Meyer, Klaus K; Fredriksen, Ase A; Ueland, Per Magne PM; Jenab, Mazda M; Slimani, Nadia N; Boffetta, Paolo P; Overvad, Kim K; Thorlacius-Ussing, Ole O; Tjønneland, Anne A; Olsen, Anja A; Clavel-Chapelon, Françoise F; Boutron-Ruault, Marie-Christine MC; Morois, Sophie S; Weikert, Cornelia C; Pischon, Tobias T; Linseisen, Jakob J; Kaaks, Rudolf R; Trichopoulou, Antonia A; Zilis, Demosthenes D; Katsoulis, Michael M; Palli, Domenico D; Pala, Valeria V; Vineis, Paolo P; Tumino, Rosario R; Panico, Salvatore S; Peeters, Petra H M PH; Bueno-de-Mesquita, H Bas HB; van Duijnhoven, Fränzel J B FJ; Skeie, Guri G; Muñoz, Xavier X; Martínez, Carmen C; Dorronsoro, Miren M; Ardanaz, Eva E; Navarro, Carmen C; Rodríguez, Laudina L; VanGuelpen, Bethany B; Palmqvist, Richard R; Manjer, Jonas J; Ericson, Ulrika U; Bingham, Sheila S; Khaw, Kay-Tee KT; Norat, Teresa T; Riboli, Elio E
Publication Date: 2010-10

Variant appearance in text: rs234706
PubMed Link: 20813848
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Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Genetic Epidemiology
Locke, Adam E AE; Dooley, Kenneth J KJ; Tinker, Stuart W SW; Cheong, Soo Yeon SY; Feingold, Eleanor E; Allen, Emily G EG; Freeman, Sallie B SB; Torfs, Claudine P CP; Cua, Clifford L CL; Epstein, Michael P MP; Wu, Michael C MC; Lin, Xihong X; Capone, George G; Sherman, Stephanie L SL; Bean, Lora J H LJ
Publication Date: 2010-09

Variant appearance in text: rs234706
PubMed Link: 20718043
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Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism.

Environmental Research
Porter, Kristin E KE; Basu, Anamika A; Hubbard, Alan E AE; Bates, Michael N MN; Kalman, David D; Rey, Omar O; Smith, Allan A; Smith, Martyn T MT; Steinmaus, Craig C; Skibola, Christine F CF
Publication Date: 2010-08

Variant appearance in text: rs234706
PubMed Link: 20670920
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Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

Bmc Genetics
Cross, Deanna S DS; Ivacic, Lynn C LC; Stefanski, Elisha L EL; McCarty, Catherine A CA
Publication Date: 2010-06-17

Variant appearance in text: rs234706
PubMed Link: 20565774
Variant Present in the following documents:
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  • 1471-2156-11-51.pdf
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Development of a fingerprinting panel using medically relevant polymorphisms.

Bmc Medical Genomics
Cross, Deanna S DS; Ivacic, Lynn C LC; McCarty, Catherine A CA
Publication Date: 2009-04-20

Variant appearance in text: rs234706
PubMed Link: 19379518
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Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Figueiredo, Jane C JC; Grau, Maria V MV; Wallace, Kristin K; Levine, A Joan AJ; Shen, Lanlan L; Hamdan, Randala R; Chen, Xinli X; Bresalier, Robert S RS; McKeown-Eyssen, Gail G; Haile, Robert W RW; Baron, John A JA; Issa, Jean-Pierre J JP
Publication Date: 2009-04

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 19336559
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No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Stevens, Victoria L VL; Rodriguez, Carmen C; Sun, Juzhong J; Talbot, Jeffrey T JT; Thun, Michael J MJ; Calle, Eugenia E EE
Publication Date: 2008-12

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 19064578
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Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.

Genetic Epidemiology
Boyles, Abee L AL; Wilcox, Allen J AJ; Taylor, Jack A JA; Shi, Min M; Weinberg, Clarice R CR; Meyer, Klaus K; Fredriksen, Ase A; Ueland, Per Magne PM; Johansen, Anne Marte W AM; Drevon, Christian A CA; Jugessur, Astanand A; Trung, Truc Nguyen TN; Gjessing, Håkon K HK; Vollset, Stein Emil SE; Murray, Jeffrey C JC; Christensen, Kaare K; Lie, Rolv T RT
Publication Date: 2009-04

Variant appearance in text: rs234706
PubMed Link: 19048631
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Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.

Leukemia
Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR
Publication Date: 2009-03

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 18830263
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Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Figueiredo, Jane C JC; Levine, A Joan AJ; Grau, Maria V MV; Midttun, Oivind O; Ueland, Per M PM; Ahnen, Dennis J DJ; Barry, Elizabeth L EL; Tsang, Shirley S; Munroe, David D; Ali, Iqbal I; Haile, Robert W RW; Sandler, Robert S RS; Baron, John A JA
Publication Date: 2008-08

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 18708408
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Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

American Journal Of Medical Genetics. Part A
Boyles, Abee L AL; Wilcox, Allen J AJ; Taylor, Jack A JA; Meyer, Klaus K; Fredriksen, Ase A; Ueland, Per Magne PM; Drevon, Christian A CA; Vollset, Stein Emil SE; Lie, Rolv Terje RT
Publication Date: 2008-02-15

Variant appearance in text: rs234706
PubMed Link: 18203168
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Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

Bmc Genetics
Ekstrøm, Per O PO; Bjørheim, Jens J; Thilly, William G WG
Publication Date: 2007-08-14

Variant appearance in text: rs234706
PubMed Link: 17697348
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A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ
Publication Date: 2007-07-02

Variant appearance in text: rs234706
PubMed Link: 17601350
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Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.

Blood
Lim, Unhee U; Wang, Sophia S SS; Hartge, Patricia P; Cozen, Wendy W; Kelemen, Linda E LE; Chanock, Stephen S; Davis, Scott S; Blair, Aaron A; Schenk, Maryjean M; Rothman, Nathaniel N; Lan, Qing Q
Publication Date: 2007-04-01

Variant appearance in text: CBS: Y233Y; rs234706
PubMed Link: 17119116
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Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Human Mutation
Vyletal, Petr P; Sokolová, Jitka J; Cooper, David N DN; Kraus, Jan P JP; Krawczak, Michael M; Pepe, Guglielmina G; Rickards, Olga O; Koch, Hans G HG; Linnebank, Michael M; Kluijtmans, Leo A J LA; Blom, Henk J HJ; Boers, Godfried H J GH; Gaustadnes, Mette M; Skovby, Flemming F; Wilcken, Bridget B; Wilcken, David E L DE; Andria, Generoso G; Sebastio, Gianfranco G; Naughten, Eileen R ER; Yap, Sufin S; Ohura, Toshihiro T; Pronicka, Ewa E; Laszlo, Aranka A; Kozich, Viktor V
Publication Date: 2007-03

Variant appearance in text: CBS: 699C>T
PubMed Link: 17072863
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Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

American Journal Of Human Genetics
Janosík, M M; Oliveriusová, J J; Janosíková, B B; Sokolová, J J; Kraus, E E; Kraus, J P JP; Kozich, V V
Publication Date: 2001-06

Variant appearance in text: CBS: Y233Y
PubMed Link: 11359213
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