Publications:

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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: rs2576452

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis.

Journal Of Hepatology

Teo, Kevin K; Abeysekera, Kushala W M KWM; Adams, Leon L; Aigner, Elmar E; Anstee, Quentin M QM; Banales, Jesus M JM; Banerjee, Rajarshi R; Basu, Priyadarshi P; Berg, Thomas T; Bhatnagar, Pallav P; Buch, Stephan S; Canbay, Ali A; Caprio, Sonia S; Chatterjee, Ankita A; Ida Chen, Yii-Der YD; Chowdhury, Abhijit A; Daly, Ann K AK; Datz, Christian C; de Gracia Hahn, Dana D; DiStefano, Johanna K JK; Dong, Jiawen J; Duret, Amedine A; , ; Emdin, Connor C; Fairey, Madison M; Gerhard, Glenn S GS; , ; Guo, Xiuqing X; Hampe, Jochen J; Hickman, Matthew M; Heintz, Lena L; Hudert, Christian C; Hunter, Harriet H; Kelly, Matt M; Kozlitina, Julia J; Krawczyk, Marcin M; Lammert, Frank F; Langenberg, Claudia C; Lavine, Joel J; Li, Lin L; Lim, Hong Kai HK; Loomba, Rohit R; Luukkonen, Panu K PK; Melton, Phillip E PE; Mori, Trevor A TA; Palmer, Nicholette D ND; Parisinos, Constantinos A CA; Pillai, Sreekumar G SG; Qayyum, Faiza F; Reichert, Matthias C MC; Romeo, Stefano S; Rotter, Jerome I JI; Im, Yu Ri YR; Santoro, Nicola N; Schafmayer, Clemens C; Speliotes, Elizabeth K EK; Stender, Stefan S; Stickel, Felix F; Still, Christopher D CD; Strnad, Pavel P; Taylor, Kent D KD; Tybjærg-Hansen, Anne A; Umano, Giuseppina Rosaria GR; Utukuri, Mrudula M; Valenti, Luca L; Wagenknecht, Lynne E LE; Wareham, Nicholas J NJ; Watanabe, Richard M RM; Wattacheril, Julia J; Yaghootkar, Hanieh H; Yki-Järvinen, Hannele H; Young, Kendra A KA; Mann, Jake P JP

Publication Date: 2021-01

Variant appearance in text: rs2576452

PubMed Link: 32882372

Variant Present in the following documents:

• Main text
• mmc1.pdf

View BVdb publication page

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Insights into genetic variants associated with NASH-fibrosis from metabolite profiling.

Human Molecular Genetics

Mann, Jake P JP; Pietzner, Maik M; Wittemans, Laura B LB; Rolfe, Emmanuela De Lucia EL; Kerrison, Nicola D ND; Imamura, Fumiaki F; Forouhi, Nita G NG; Fauman, Eric E; Allison, Michael E ME; Griffin, Jules L JL; Koulman, Albert A; Wareham, Nicholas J NJ; Langenberg, Claudia C

Publication Date: 2020-12-18

Variant appearance in text: rs2576452

PubMed Link: 32720691

Variant Present in the following documents:

• Main text
• ddaa162.pdf

View BVdb publication page

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The Effect of Genetic Variation on the Placental Transcriptome in Humans.

Frontiers In Genetics

Kikas, Triin T; Rull, Kristiina K; Beaumont, Robin N RN; Freathy, Rachel M RM; Laan, Maris M

Publication Date: 2019

Variant appearance in text: rs2576452

PubMed Link: 31244887

Variant Present in the following documents:

• Main text
• fgene-10-00550.pdf

View BVdb publication page

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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: rs2576452

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Coding variants in PNPLA3 and TM6SF2 are risk factors for hepatic steatosis and elevated serum alanine aminotransferases caused by a glucagon receptor antagonist.

Hepatology Communications

Guzman, Cristina B CB; Duvvuru, Suman S; Akkari, Anthony A; Bhatnagar, Pallav P; Battioui, Chakib C; Foster, Wendra W; Zhang, Xiaotian Michelle XM; Shankar, Sudha S SS; Deeg, Mark A MA; Chalasani, Naga N; Hardy, Thomas A TA; Kazda, Christof M CM; Pillai, Sreekumar G SG

Publication Date: 2018-05

Variant appearance in text: rs2576452

PubMed Link: 29761171

Variant Present in the following documents:

• Main text
• HEP4-2-561.pdf

View BVdb publication page

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Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease.

Scientific Reports

Sookoian, Silvia S; Flichman, Diego D; Garaycoechea, Martin E ME; Gazzi, Carla C; Martino, Julio San JS; Castaño, Gustavo O GO; Pirola, Carlos J CJ

Publication Date: 2018-03-23

Variant appearance in text: rs2576452

PubMed Link: 29572551

Variant Present in the following documents:

• Main text
• 41598_2018_Article_23453.pdf

View BVdb publication page

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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs2576452

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

View BVdb publication page

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