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: SHMT1: L474F

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

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: rs1979277

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1979277

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: SHMT1: 1420C>T; Leu474Phe; rs1979277

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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: SHMT1: L474F

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs1979277

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Genes

Cereja Pantoja, Karla Beatriz Cardias KBC; Azevedo, Tereza Cristina de Brito TCB; Carvalho, Darlen Cardoso de DC; Monte, Natasha N; Cohen Paes, Amanda de Nazaré AN; Barros, Maria Clara da Costa MCDC; Vinagre, Lui Wallacy Morikawa Souza LWMS; Freitas, Ana Rosa Sales de ARS; Burbano, Rommel Mario Rodríguez RMR; Assumpção, Paulo Pimentel de PP; Santos, Sidney Emanuel Batista Dos SEBD; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2022-02-10

Variant appearance in text: rs1979277

PubMed Link: 35205374

Variant Present in the following documents:

• genes-13-00330.pdf

View BVdb publication page

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Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study.

International Journal Of Reproductive Biomedicine

Efremova, Olesya O; Ponomarenko, Irina I; Churnosov, Mikhail M

Publication Date: 2021-12

Variant appearance in text: rs1979277

PubMed Link: 35098008

Variant Present in the following documents:

• ijrb-19-1067.pdf

View BVdb publication page

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A Risk Scoring Model for High-Dose Methotrexate-Induced Liver Injury in Children With Acute Lymphoblastic Leukemia Based on Gene Polymorphism Study.

Frontiers In Pharmacology

He, Xia X; Yao, Pingli P; Li, Mengting M; Liang, Hong H; Liu, Yilong Y; Du, Shan S; Zhang, Min M; Sun, Wenzhuo W; Wang, Zeyuan Z; Hao, Xin X; Yu, Ze Z; Gao, Fei F; Liu, Xinxia X; Tong, Rongsheng R

Publication Date: 2021

Variant appearance in text: rs1979277

PubMed Link: 34658865

Variant Present in the following documents:

• Main text
• fphar-12-726229.pdf

View BVdb publication page

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Genetic Polymorphisms of GGH and ABCC2 Are Associated with Methotrexate Intolerance in Patients with Rheumatoid Arthritis.

Journal Of Clinical Medicine

Escudero-Contreras, Alejandro A; López-Medina, Clementina C; Collantes-Estévez, Eduardo E; Ortega-Castro, Rafaela R; Calvo-Gutiérrez, Jerusalem J; Mena-Vázquez, Natalia N; Panero-Lamothe, Blanca B; Manzanares-Martín, Bárbara B; Cáliz-Cáliz, Rafael R; Jiménez-Morales, Alberto A; Ruiz-Jiménez, Mayte M; Font-Ugalde, Pilar P

Publication Date: 2021-09-09

Variant appearance in text: rs1979277

PubMed Link: 34575187

Variant Present in the following documents:

• Main text
• jcm-10-04070.pdf

View BVdb publication page

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A case-control study of a combination of single nucleotide polymorphisms and clinical parameters to predict clinically relevant toxicity associated with fluoropyrimidine and platinum-based chemotherapy in gastric cancer.

Bmc Cancer

Cordova-Delgado, Miguel M; Bravo, María Loreto ML; Cumsille, Elisa E; Hill, Charlotte N CN; Muñoz-Medel, Matías M; Pinto, Mauricio P MP; Retamal, Ignacio N IN; Lavanderos, María A MA; Miquel, Juan Francisco JF; Rodriguez-Fernandez, Maria M; Liao, Yuwei Y; Li, Zhiguang Z; Corvalán, Alejandro H AH; Armisén, Ricardo R; Garrido, Marcelo M; Quiñones, Luis A LA; Owen, Gareth I GI

Publication Date: 2021-09-16

Variant appearance in text: SHMT1: L474F; rs1979277

PubMed Link: 34525956

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8745.pdf

View BVdb publication page

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Host pharmacogenetic factors that may affect liver neoplasm incidence upon using direct-acting antivirals for treating hepatitis C infection.

Heliyon

Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Hashem, Medhat H MH; Mahmoud, Amal A; Hemeida, Alaa A AA

Publication Date: 2021-05

Variant appearance in text: rs1979277

PubMed Link: 34013078

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics

Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME

Publication Date: 2021

Variant appearance in text: rs1979277

PubMed Link: 33981330

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Mechanisms and Tumor Biological Aspects of 5-Fluorouracil Resistance in HCT116 Human Colorectal Cancer Cells.

International Journal Of Molecular Sciences

Kurasaka, Chinatsu C; Ogino, Yoko Y; Sato, Akira A

Publication Date: 2021-03-13

Variant appearance in text: SHMT1: 1420C>T

PubMed Link: 33805673

Variant Present in the following documents:

• Main text
• ijms-22-02916.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: SHMT1: Leu474Phe; rs1979277

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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B vitamin blood concentrations and one-carbon metabolism polymorphisms in a sample of Italian women and men attending a unit of transfusion medicine: a cross-sectional study.

European Journal Of Nutrition

Bortolus, Renata R; Filippini, Francesca F; Udali, Silvia S; Rinaldi, Marianna M; Genesini, Sabrina S; Gandini, Giorgio G; Montagnana, Martina M; Chiaffarino, Francesca F; Lippi, Giuseppe G; Pattini, Patrizia P; De Grandi, Gelinda G; Olivieri, Oliviero O; Parazzini, Fabio F; Friso, Simonetta S

Publication Date: 2021-08

Variant appearance in text: rs1979277

PubMed Link: 33373019

Variant Present in the following documents:

• Main text
• 394_2020_Article_2448.pdf

View BVdb publication page

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Gene Polymorphisms Involved in Folate Metabolism and DNA Methylation with the Risk of Head and Neck Cancer.

Asian Pacific Journal Of Cancer Prevention : Apjcp

De Castro, Tialfi Bergamin TB; Rodrigues-Fleming, Gabriela Helena GH; Oliveira-Cucolo, Juliana Garcia De JG; Silva, Jéssika Nunes Gomes Da JNGD; Silva, Fabia Pigatti FP; Raposo, Luiz Sérgio LS; Maniglia, José Victor JV; Pavarino, Erika Cristina EC; Batista Arantes, Lidia Maria Rebolho LMR; Galbiatti-Dias, Ana Lívia Silva ALS; Maria Goloni Bertollo, Eny E

Publication Date: 2020-12-01

Variant appearance in text: rs1979277

PubMed Link: 33369477

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effectiveness of community-based folate-oriented tertiary interventions on incidence of fetus and birth defects: a protocol for a single-blind cluster randomized controlled trial.

Bmc Pregnancy And Childbirth

Li, Mengru M; Zhang, Yi Y; Chen, Xiaotian X; Wang, Dingmei D; Ji, Mi M; Jiang, Yuan Y; Dou, Yalan Y; Ma, Xiaojing X; Sheng, Wei W; Yan, Weili W; Huang, Guoying G

Publication Date: 2020-08-20

Variant appearance in text: rs1979277

PubMed Link: 32819312

Variant Present in the following documents:

• Main text
• 12884_2020_Article_3154.pdf

View BVdb publication page

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Independent and Interactive Influences of Environmental UVR, Vitamin D Levels, and Folate Variant MTHFD1-rs2236225 on Homocysteine Levels.

Nutrients

Jones, Patrice P; Lucock, Mark M; Martin, Charlotte C; Thota, Rohith R; Garg, Manohar M; Yates, Zoe Z; Scarlett, Christopher J CJ; Veysey, Martin M; Beckett, Emma E

Publication Date: 2020-05-18

Variant appearance in text: rs1979277

PubMed Link: 32443475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of blood malignancies among Iranian population: an overview.

Diagnostic Pathology

Ghayour-Mobarhan, Majid M; Zangouei, Amir Sadra AS; Hosseinirad, Seyed Mohammad SM; Mojarrad, Majid M; Moghbeli, Meysam M

Publication Date: 2020-05-06

Variant appearance in text: rs1979277

PubMed Link: 32375828

Variant Present in the following documents:

• Main text

View BVdb publication page

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MTHFR and VDR Polymorphisms Improve the Prognostic Value of MYCN Status on Overall Survival in Neuroblastoma Patients.

International Journal Of Molecular Sciences

Olivera, Gladys G GG; Yáñez, Yania Y; Gargallo, Pablo P; Sendra, Luis L; Aliño, Salvador F SF; Segura, Vanessa V; Sanz, Miguel Ángel MÁ; Cañete, Adela A; Castel, Victoria V; Font De Mora, Jaime J; Hervás, David D; Berlanga, Pablo P; Herrero, María José MJ

Publication Date: 2020-04-14

Variant appearance in text: rs1979277

PubMed Link: 32295184

Variant Present in the following documents:

• Main text
• ijms-21-02714.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

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

Publication Date: 2020-04-09

Variant appearance in text: SHMT1: L474F

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: SHMT1: 1420C>T; Leu474Phe

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 10

View BVdb publication page

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Association of genes ARID5B, CEBPE and folate pathway with acute lymphoblastic leukemia in a population from the Brazilian Amazon region.

Leukemia Research Reports

Carvalho, Darlen Cardoso DC; Wanderley, Alayde Vieira AV; Mello Junior, Fernando Augusto Rodrigues FAR; Santos, André Mauricio Ribeiro Dos AMRD; Leitão, Luciana Pereira Colares LPC; Souza, Tatiane Piedade de TP; Castro, Amanda de Nazaré Cohen Lima de ANCL; Magalhães, Leandro Lopes de LL; Fernandes, Marianne Rodrigues MR; Carvalho Junior, João Augusto Nunes de JAN; Khayat, André Salim AS; Santos, Sidney S; Assumpção, Paulo Pimentel de PP; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2020

Variant appearance in text: rs1979277

PubMed Link: 31867206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shanghai Preconception Cohort (SPCC) for the association of periconceptional parental key nutritional factors with health outcomes of children with congenital heart disease: a cohort profile.

Bmj Open

Wang, Dingmei D; Zhang, Yi Y; Jiang, Yuang Y; Ye, Ying Y; Ji, Mi M; Dou, Yalan Y; Chen, Xiaotian X; Li, Mengru M; Ma, Xiaojing X; Sheng, Wei W; Huang, Guoying G; Yan, Weili W; ,

Publication Date: 2019-11-24

Variant appearance in text: rs1979277

PubMed Link: 31767586

Variant Present in the following documents:

• bmjopen-2019-031076.draft_revisions.pdf

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: SHMT1: 1420C>T; Leu474Phe; rs1979277

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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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: SHMT1: L474F; rs1979277

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Genetics and B Vitamin Status With the Magnitude of Optic Disc Edema During 30-Day Strict Head-Down Tilt Bed Rest.

Jama Ophthalmology

Zwart, Sara R SR; Laurie, Steven S SS; Chen, John J JJ; Macias, Brandon R BR; Lee, Stuart M C SMC; Stenger, Michael M; Grantham, Bart B; Carey, Knox K; Young, Millennia M; Smith, Scott M SM

Publication Date: 2019-10-01

Variant appearance in text: rs1979277

PubMed Link: 31415055

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Scientific Reports

Lazar, Iulia M IM; Karcini, Arba A; Ahuja, Shreya S; Estrada-Palma, Carly C

Publication Date: 2019-07-17

Variant appearance in text: SHMT1: 1420C>T; L474F

PubMed Link: 31316139

Variant Present in the following documents:

• 41598_2019_46897_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Influence of the OATP Polymorphism on the Population Pharmacokinetics of Methotrexate in Chinese Patients.

Current Drug Metabolism

Wang, Zhiqi Z; Zhang, Nan N; Chen, Chaoyang C; Chen, Shuqing S; Xu, Junyu J; Zhou, Ying Y; Zhao, Xia X; Cui, Yimin Y

Publication Date: 2019

Variant appearance in text: rs1979277

PubMed Link: 31267867

Variant Present in the following documents:

• Main text
• CDM-20-592.pdf

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: SHMT1: L474F

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1

View BVdb publication page

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Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications

Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: SHMT1: 1420C>T; L474F; rs1979277

PubMed Link: 30962452

Variant Present in the following documents:

• 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Folate/homocysteine metabolism and lung cancer risk among smokers.

Plos One

Stanisławska-Sachadyn, Anna A; Borzyszkowska, Joanna J; Krzemiński, Michał M; Janowicz, Alicja A; Dziadziuszko, Rafał R; Jassem, Jacek J; Rzyman, Witold W; Limon, Janusz J

Publication Date: 2019

Variant appearance in text: SHMT1: 1420C>T; rs1979277

PubMed Link: 30939165

Variant Present in the following documents:

• Main text
• pone.0214462.pdf
• pone.0214462.s003.pdf
• pone.0214462.s002.pdf

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: rs1979277

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

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: rs1979277

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: rs1979277

PubMed Link: 30587867

Variant Present in the following documents:

• Main text
• 2186-3326-80-0529.pdf

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: SHMT1: L474F; rs1979277

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: SHMT1: L474F; rs1979277

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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A single-nucleotide polymorphism (rs1805087) in the methionine synthase (METH) gene increases the risk of prostate cancer.

Aging

Zhang, Xiaosong X; Tang, Jilei J; Shen, Nan N; Ren, Kewei K

Publication Date: 2018-10-18

Variant appearance in text: rs1979277

PubMed Link: 30337500

Variant Present in the following documents:

• Main text
• aging-10-101584.pdf

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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: rs1979277

PubMed Link: 29694444

Variant Present in the following documents:

• Main text
• pone.0196233.pdf

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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: SHMT1: L474F

PubMed Link: 29474406

Variant Present in the following documents:

• Main text
• pone.0193298.pdf

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Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Environment International

Niedzwiecki, Megan M MM; Liu, Xinhua X; Zhu, Huiping H; Hall, Megan N MN; Slavkovich, Vesna V; Ilievski, Vesna V; Levy, Diane D; Siddique, Abu B AB; Kibriya, Muhammad G MG; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Navas-Acien, Ana A; Graziano, Joseph H JH; Finnell, Richard H RH; Ahsan, Habibul H; Gamble, Mary V MV

Publication Date: 2018-04

Variant appearance in text: SHMT1: L474F; rs1979277

PubMed Link: 29421402

Variant Present in the following documents:

• Main text

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