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: rs780095

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Genetic variants associated with inflammatory bowel disease and gut graft-versus-host disease.

Blood Advances

Martin, Paul J PJ; Storer, Barry E BE; Levine, David M DM; Hansen, John A JA

Publication Date: 2021-11-09

Variant appearance in text: rs780095

PubMed Link: 34535014

Variant Present in the following documents:

• Main text
• advancesADV2021004959.pdf

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Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man-Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2021-04-18

Variant appearance in text: rs780095

PubMed Link: 33919522

Variant Present in the following documents:

• Main text

View BVdb publication page

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Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.

Genome Medicine

Rao, Shuquan S; Yao, Yao Y; Bauer, Daniel E DE

Publication Date: 2021-03-10

Variant appearance in text: rs780095

PubMed Link: 33691767

Variant Present in the following documents:

• Main text
• 13073_2021_Article_857.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs780095

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Functional Variant in the GCKR Gene Affects Lactate Levels Differentially in the Fasting State and During Hyperglycemia.

Scientific Reports

López Rodríguez, Maykel M; Fernandes Silva, Lilian L; Vangipurapu, Jagadish J; Modi, Shalem S; Kuusisto, Johanna J; Kaikkonen, Minna U MU; Laakso, Markku M

Publication Date: 2018-10-30

Variant appearance in text: rs780095

PubMed Link: 30375486

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34501.pdf

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Identification and characterization of a FOXA2-regulated transcriptional enhancer at a type 2 diabetes intronic locus that controls GCKR expression in liver cells.

Genome Medicine

López Rodríguez, Maykel M; Kaminska, Dorota D; Lappalainen, Kati K; Pihlajamäki, Jussi J; Kaikkonen, Minna U MU; Laakso, Markku M

Publication Date: 2017-07-06

Variant appearance in text: rs780095

PubMed Link: 28683826

Variant Present in the following documents:

• Main text
• 13073_2017_Article_453.pdf

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Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine

Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C

Publication Date: 2017-03-07

Variant appearance in text: rs780095

PubMed Link: 28270201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases

Matsuo, Hirotaka H; Yamamoto, Ken K; Nakaoka, Hirofumi H; Nakayama, Akiyoshi A; Sakiyama, Masayuki M; Chiba, Toshinori T; Takahashi, Atsushi A; Nakamura, Takahiro T; Nakashima, Hiroshi H; Takada, Yuzo Y; Danjoh, Inaho I; Shimizu, Seiko S; Abe, Junko J; Kawamura, Yusuke Y; Terashige, Sho S; Ogata, Hiraku H; Tatsukawa, Seishiro S; Yin, Guang G; Okada, Rieko R; Morita, Emi E; Naito, Mariko M; Tokumasu, Atsumi A; Onoue, Hiroyuki H; Iwaya, Keiichi K; Ito, Toshimitsu T; Takada, Tappei T; Inoue, Katsuhisa K; Kato, Yukio Y; Nakamura, Yukio Y; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Kanai, Yoshikatsu Y; Hosoya, Tatsuo T; Hamajima, Nobuyuki N; Inoue, Ituro I; Kubo, Michiaki M; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Shimizu, Toru T; Shinomiya, Nariyoshi N

Publication Date: 2016-04

Variant appearance in text: rs780095

PubMed Link: 25646370

Variant Present in the following documents:

• annrheumdis-2014-206191-s1.pdf

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