DGKQ c.272-919C>T

Variant ID: 4-965779-G-A

NM_001347.3(DGKQ):c.272-919C>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: rs11724804
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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New insights on the role of human leukocyte antigen complex in primary biliary cholangitis.

Frontiers In Immunology
Mulinacci, Giacomo G; Palermo, Andrea A; Gerussi, Alessio A; Asselta, Rosanna R; Gershwin, Merrill Eric ME; Invernizzi, Pietro P
Publication Date: 2022

Variant appearance in text: rs11724804
PubMed Link: 36119102
Variant Present in the following documents:
  • Main text
  • fimmu-13-975115.pdf
View BVdb publication page



Updates on genetics in systemic sclerosis.

Inflammation And Regeneration
Ota, Yuko Y; Kuwana, Masataka M
Publication Date: 2021-06-15

Variant appearance in text: rs11724804
PubMed Link: 34130729
Variant Present in the following documents:
  • Main text
  • 41232_2021_Article_167.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: rs11724804
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.

Nature Communications
López-Isac, Elena E; Acosta-Herrera, Marialbert M; Kerick, Martin M; Assassi, Shervin S; Satpathy, Ansuman T AT; Granja, Jeffrey J; Mumbach, Maxwell R MR; Beretta, Lorenzo L; Simeón, Carmen P CP; Carreira, Patricia P; Ortego-Centeno, Norberto N; Castellvi, Ivan I; Bossini-Castillo, Lara L; Carmona, F David FD; Orozco, Gisela G; Hunzelmann, Nicolas N; Distler, Jörg H W JHW; Franke, Andre A; Lunardi, Claudio C; Moroncini, Gianluca G; Gabrielli, Armando A; de Vries-Bouwstra, Jeska J; Wijmenga, Cisca C; Koeleman, Bobby P C BPC; Nordin, Annika A; Padyukov, Leonid L; Hoffmann-Vold, Anna-Maria AM; Lie, Benedicte B; , ; Proudman, Susanna S; Stevens, Wendy W; Nikpour, Mandana M; , ; Vyse, Timothy T; Herrick, Ariane L AL; Worthington, Jane J; Denton, Christopher P CP; Allanore, Yannick Y; Brown, Matthew A MA; Radstake, Timothy R D J TRDJ; Fonseca, Carmen C; Chang, Howard Y HY; Mayes, Maureen D MD; Martin, Javier J
Publication Date: 2019-10-31

Variant appearance in text: rs11724804
PubMed Link: 31672989
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12760.pdf
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Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits.

American Journal Of Human Genetics
Raulerson, Chelsea K CK; Ko, Arthur A; Kidd, John C JC; Currin, Kevin W KW; Brotman, Sarah M SM; Cannon, Maren E ME; Wu, Ying Y; Spracklen, Cassandra N CN; Jackson, Anne U AU; Stringham, Heather M HM; Welch, Ryan P RP; Fuchsberger, Christian C; Locke, Adam E AE; Narisu, Narisu N; Lusis, Aldons J AJ; Civelek, Mete M; Furey, Terrence S TS; Kuusisto, Johanna J; Collins, Francis S FS; Boehnke, Michael M; Scott, Laura J LJ; Lin, Dan-Yu DY; Love, Michael I MI; Laakso, Markku M; Pajukanta, Päivi P; Mohlke, Karen L KL
Publication Date: 2019-10-03

Variant appearance in text: rs11724804
PubMed Link: 31564431
Variant Present in the following documents:
  • Main text
View BVdb publication page



POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.

Scientific Reports
Hitomi, Yuki Y; Ueno, Kazuko K; Kawai, Yosuke Y; Nishida, Nao N; Kojima, Kaname K; Kawashima, Minae M; Aiba, Yoshihiro Y; Nakamura, Hitomi H; Kouno, Hiroshi H; Kouno, Hirotaka H; Ohta, Hajime H; Sugi, Kazuhiro K; Nikami, Toshiki T; Yamashita, Tsutomu T; Katsushima, Shinji S; Komeda, Toshiki T; Ario, Keisuke K; Naganuma, Atsushi A; Shimada, Masaaki M; Hirashima, Noboru N; Yoshizawa, Kaname K; Makita, Fujio F; Furuta, Kiyoshi K; Kikuchi, Masahiro M; Naeshiro, Noriaki N; Takahashi, Hironao H; Mano, Yutaka Y; Yamashita, Haruhiro H; Matsushita, Kouki K; Tsunematsu, Seiji S; Yabuuchi, Iwao I; Nishimura, Hideo H; Shimada, Yusuke Y; Yamauchi, Kazuhiko K; Komatsu, Tatsuji T; Sugimoto, Rie R; Sakai, Hironori H; Mita, Eiji E; Koda, Masaharu M; Nakamura, Yoko Y; Kamitsukasa, Hiroshi H; Sato, Takeaki T; Nakamuta, Makoto M; Masaki, Naohiko N; Takikawa, Hajime H; Tanaka, Atsushi A; Ohira, Hiromasa H; Zeniya, Mikio M; Abe, Masanori M; Kaneko, Shuichi S; Honda, Masao M; Arai, Kuniaki K; Arinaga-Hino, Teruko T; Hashimoto, Etsuko E; Taniai, Makiko M; Umemura, Takeji T; Joshita, Satoru S; Nakao, Kazuhiko K; Ichikawa, Tatsuki T; Shibata, Hidetaka H; Takaki, Akinobu A; Yamagiwa, Satoshi S; Seike, Masataka M; Sakisaka, Shotaro S; Takeyama, Yasuaki Y; Harada, Masaru M; Senju, Michio M; Yokosuka, Osamu O; Kanda, Tatsuo T; Ueno, Yoshiyuki Y; Ebinuma, Hirotoshi H; Himoto, Takashi T; Murata, Kazumoto K; Shimoda, Shinji S; Nagaoka, Shinya S; Abiru, Seigo S; Komori, Atsumasa A; Migita, Kiyoshi K; Ito, Masahiro M; Yatsuhashi, Hiroshi H; Maehara, Yoshihiko Y; Uemoto, Shinji S; Kokudo, Norihiro N; Nagasaki, Masao M; Tokunaga, Katsushi K; Nakamura, Minoru M
Publication Date: 2019-01-14

Variant appearance in text: rs11724804
PubMed Link: 30643196
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36490.pdf
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Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

Plos One
Gorlova, Olga Y OY; Li, Yafang Y; Gorlov, Ivan I; Ying, Jun J; Chen, Wei V WV; Assassi, Shervin S; Reveille, John D JD; Arnett, Frank C FC; Zhou, Xiaodong X; Bossini-Castillo, Lara L; Lopez-Isac, Elena E; Acosta-Herrera, Marialbert M; Gregersen, Peter K PK; Lee, Annette T AT; Steen, Virginia D VD; Fessler, Barri J BJ; Khanna, Dinesh D; Schiopu, Elena E; Silver, Richard M RM; Molitor, Jerry A JA; Furst, Daniel E DE; Kafaja, Suzanne S; Simms, Robert W RW; Lafyatis, Robert A RA; Carreira, Patricia P; Simeon, Carmen Pilar CP; Castellvi, Ivan I; Beltran, Emma E; Ortego, Norberto N; Amos, Christopher I CI; Martin, Javier J; Mayes, Maureen D MD
Publication Date: 2018

Variant appearance in text: rs11724804
PubMed Link: 29293537
Variant Present in the following documents:
  • Main text
  • pone.0189498.pdf
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Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.

Journal Of Immunology Research
Joshita, Satoru S; Umemura, Takeji T; Tanaka, Eiji E; Ota, Masao M
Publication Date: 2017

Variant appearance in text: rs11724804
PubMed Link: 28255561
Variant Present in the following documents:
  • Main text
  • JIR2017-3073504.pdf
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Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies.

Arthritis Research & Therapy
Parkes, Joanna E JE; Rothwell, Simon S; Day, Philip J PJ; McHugh, Neil J NJ; Betteridge, Zoë E ZE; Cooper, Robert G RG; Ollier, William E WE; Chinoy, Hector H; Lamb, Janine A JA; ,
Publication Date: 2016-07-07

Variant appearance in text: rs11724804
PubMed Link: 27388770
Variant Present in the following documents:
  • Main text
  • 13075_2016_Article_1061.pdf
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International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

Nature Communications
Cordell, Heather J HJ; Han, Younghun Y; Mells, George F GF; Li, Yafang Y; Hirschfield, Gideon M GM; Greene, Casey S CS; Xie, Gang G; Juran, Brian D BD; Zhu, Dakai D; Qian, David C DC; Floyd, James A B JA; Morley, Katherine I KI; Prati, Daniele D; Lleo, Ana A; Cusi, Daniele D; , ; , ; , ; Gershwin, M Eric ME; Anderson, Carl A CA; Lazaridis, Konstantinos N KN; Invernizzi, Pietro P; Seldin, Michael F MF; Sandford, Richard N RN; Amos, Christopher I CI; Siminovitch, Katherine A KA
Publication Date: 2015-09-22

Variant appearance in text: rs11724804
PubMed Link: 26394269
Variant Present in the following documents:
  • Main text
  • ncomms9019.pdf
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The immunogenetics of primary biliary cirrhosis: A comprehensive review.

Journal Of Autoimmunity
Webb, G J GJ; Siminovitch, K A KA; Hirschfield, G M GM
Publication Date: 2015-11

Variant appearance in text: rs11724804
PubMed Link: 26250073
Variant Present in the following documents:
  • Main text
View BVdb publication page