Publications:

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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: rs9621049

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.

Life (Basel, Switzerland)

Dragasevic, Sanja S; Stankovic, Biljana B; Kotur, Nikola N; Milutinovic, Aleksandra Sokic AS; Milovanovic, Tamara T; Stojkovic Lalosevic, Milica M; Stojanovic, Maja M; Pavlovic, Sonja S; Popovic, Dragan D

Publication Date: 2022-10-18

Variant appearance in text: rs9621049

PubMed Link: 36295058

Variant Present in the following documents:

• Main text
• life-12-01623.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: TCN2: S348F; rs9621049

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: TCN2: S348F

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Frontiers In Cell And Developmental Biology

Machado, Renato Assis RA; Martelli-Junior, Hercílio H; Reis, Silvia Regina de Almeida SRA; Küchler, Erika Calvano EC; Scariot, Rafaela R; das Neves, Lucimara Teixeira LT; Coletta, Ricardo D RD

Publication Date: 2021

Variant appearance in text: rs9621049

PubMed Link: 34307341

Variant Present in the following documents:

• Main text
• fcell-09-638522.pdf

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: TCN2: 1043C>T; Ser348Phe

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: TCN2: 1043C>T; Ser348Phe

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3

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: TCN2: 1043C>T; Ser348Phe

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9

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: TCN2: 1043C>T; Ser348Phe; rs9621049

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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Genome-wide association study of circulating folate one-carbon metabolites.

Genetic Epidemiology

Wang, Jun J; Asante, Isaac I; Baron, John A JA; Figueiredo, Jane C JC; Haile, Robert R; Joan Levine, A A; Newcomb, Polly A PA; Templeton, Allyson S AS; Schumacher, Fredrick R FR; Louie, Stan G SG; Casey, Graham G; Conti, David V DV

Publication Date: 2019-12

Variant appearance in text: rs9621049

PubMed Link: 31502714

Variant Present in the following documents:

• Main text

View BVdb publication page

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In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife

Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: rs9621049

PubMed Link: 30958262

Variant Present in the following documents:

• elife-41608-supp9.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: TCN2: S348F; rs9621049

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: TCN2: S348F; rs9621049

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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Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer Medicine

Ose, Jennifer J; Botma, Akke A; Balavarca, Yesilda Y; Buck, Katharina K; Scherer, Dominique D; Habermann, Nina N; Beyerle, Jolantha J; Pfütze, Katrin K; Seibold, Petra P; Kap, Elisabeth J EJ; Benner, Axel A; Jansen, Lina L; Butterbach, Katja K; Hoffmeister, Michael M; Brenner, Hermann H; Ulrich, Alexis A; Schneider, Martin M; Chang-Claude, Jenny J; Burwinkel, Barbara B; Ulrich, Cornelia M CM

Publication Date: 2018-05-29

Variant appearance in text: rs9621049

PubMed Link: 29845757

Variant Present in the following documents:

• Main text
• CAM4-7-2797.pdf

View BVdb publication page

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Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer Medicine

Ose, Jennifer J; Botma, Akke A; Balavarca, Yesilda Y; Buck, Katharina K; Scherer, Dominique D; Habermann, Nina N; Beyerle, Jolantha J; Pfütze, Katrin K; Seibold, Petra P; Kap, Elisabeth J EJ; Benner, Axel A; Jansen, Lina L; Butterbach, Katja K; Hoffmeister, Michael M; Brenner, Hermann H; Ulrich, Alexis A; Schneider, Martin M; Chang-Claude, Jenny J; Burwinkel, Barbara B; Ulrich, Cornelia M CM

Publication Date: 2018-07

Variant appearance in text: rs9621049

PubMed Link: 29845757

Variant Present in the following documents:

• Main text
• CAM4-7-2797.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TCN2: S348F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.

American Journal Of Medical Genetics. Part A

Tang, Xinyu X; Cleves, Mario A MA; Nick, Todd G TG; Li, Ming M; MacLeod, Stewart L SL; Erickson, Stephen W SW; Li, Jingyun J; Shaw, Gary M GM; Mosley, Bridget S BS; Hobbs, Charlotte A CA; ,

Publication Date: 2015-06

Variant appearance in text: rs9621049

PubMed Link: 25846410

Variant Present in the following documents:

• Main text

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: TCN2: S348F; rs9621049

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: TCN2: Ser348Phe

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3
• pone.0109576.s001.xls, sheet 3

View BVdb publication page

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Neural tube defects, folic acid and methylation.

International Journal Of Environmental Research And Public Health

Imbard, Apolline A; Benoist, Jean-François JF; Blom, Henk J HJ

Publication Date: 2013-09-17

Variant appearance in text: rs9621049

PubMed Link: 24048206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and non-genetic predictors of LINE-1 methylation in leukocyte DNA.

Environmental Health Perspectives

Tajuddin, Salman M SM; Amaral, André F S AF; Fernández, Agustín F AF; Rodríguez-Rodero, Sandra S; Rodríguez, Ramón María RM; Moore, Lee E LE; Tardón, Adonina A; Carrato, Alfredo A; García-Closas, Montserrat M; Silverman, Debra T DT; Jackson, Brian P BP; García-Closas, Reina R; Cook, Ashley L AL; Cantor, Kenneth P KP; Chanock, Stephen S; Kogevinas, Manolis M; Rothman, Nathaniel N; Real, Francisco X FX; Fraga, Mario F MF; Malats, Núria N; ,

Publication Date: 2013-06

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 23552396

Variant Present in the following documents:

• Main text
• ehp.1206068.pdf

View BVdb publication page

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Associations between maternal genotypes and metabolites implicated in congenital heart defects.

Molecular Genetics And Metabolism

Chowdhury, Shimul S; Hobbs, Charlotte A CA; MacLeod, Stewart L SL; Cleves, Mario A MA; Melnyk, Stepan S; James, S Jill SJ; Hu, Ping P; Erickson, Stephen W SW

Publication Date: 2012-11

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 23059056

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TCN2: S348F; rs9621049

PubMed Link: 22496743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Folate and vitamin B12-related genes and risk for omphalocele.

Human Genetics

Mills, James L JL; Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Brody, Lawrence C LC; Liu, Aiyi A; Romitti, Paul A PA; Caggana, Michele M; Druschel, Charlotte M CM

Publication Date: 2012-05

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 22116453

Variant Present in the following documents:

• Main text

View BVdb publication page

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Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.

Bmc Medical Genetics

Wernimont, Susan M SM; Clark, Andrew G AG; Stover, Patrick J PJ; Wells, Martin T MT; Litonjua, Augusto A AA; Weiss, Scott T ST; Gaziano, J Michael JM; Tucker, Katherine L KL; Baccarelli, Andrea A; Schwartz, Joel J; Bollati, Valentina V; Cassano, Patricia A PA

Publication Date: 2011-11-21

Variant appearance in text: rs9621049

PubMed Link: 22103680

Variant Present in the following documents:

• Main text
• 1471-2350-12-150.pdf

View BVdb publication page

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Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.

Neurology

Hsu, F-C FC; Sides, E G EG; Mychaleckyj, J C JC; Worrall, B B BB; Elias, G A GA; Liu, Y Y; Chen, W-M WM; Coull, B M BM; Toole, J F JF; Rich, S S SS; Furie, K L KL; Sale, M M MM

Publication Date: 2011-10-18

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 21975197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Folate and vitamin B12 in idiopathic male infertility.

Asian Journal Of Andrology

Murphy, Laurel E LE; Mills, James L JL; Molloy, Anne M AM; Qian, Cong C; Carter, Tonia C TC; Strevens, Helena H; Wide-Swensson, Dag D; Giwercman, Aleksander A; Levine, Richard J RJ

Publication Date: 2011-11

Variant appearance in text: TCN2: S348F; rs9621049

PubMed Link: 21857689

Variant Present in the following documents:

• Main text

View BVdb publication page

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