DGKH c.192+30336C>A

Variant ID: 13-42653437-C-A

NM_178009.3(DGKH):c.192+30336C>A

This variant was identified in 25 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: rs1012053
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genomic and neuroimaging approaches to bipolar disorder.

Bjpsych Open
Oraki Kohshour, Mojtaba M; Papiol, Sergi S; Ching, Christopher R K CRK; Schulze, Thomas G TG
Publication Date: 2022-02-01

Variant appearance in text: rs1012053
PubMed Link: 35101157
Variant Present in the following documents:
  • Main text
  • S2056472421010826a.pdf
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Genetically predicted bipolar disorder is causally associated with an increased risk of breast cancer: a two-sample Mendelian randomization analysis.

Annals Of Translational Medicine
Peng, Haoxin H; Wu, Xiangrong X; Ge, Fan F; Huo, Zhenyu Z; Wen, Yaokai Y; Li, Caichen C; Lin, Jinsheng J; Liang, Hengrui H; Zhong, Ran R; Liu, Jun J; Wang, Runchen R; He, Jianxing J; Liang, Wenhua W
Publication Date: 2021-03

Variant appearance in text: rs1012053
PubMed Link: 33842622
Variant Present in the following documents:
  • Main text
  • atm-09-05-401.pdf
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New Era of Diacylglycerol Kinase, Phosphatidic Acid and Phosphatidic Acid-Binding Protein.

International Journal Of Molecular Sciences
Sakane, Fumio F; Hoshino, Fumi F; Murakami, Chiaki C
Publication Date: 2020-09-16

Variant appearance in text: rs1012053
PubMed Link: 32947951
Variant Present in the following documents:
  • Main text
  • ijms-21-06794.pdf
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Diacylglycerol Kinases as Emerging Potential Drug Targets for a Variety of Diseases: An Update.

Frontiers In Cell And Developmental Biology
Sakane, Fumio F; Mizuno, Satoru S; Komenoi, Suguru S
Publication Date: 2016

Variant appearance in text: rs1012053
PubMed Link: 27583247
Variant Present in the following documents:
  • Main text
  • fcell-04-00082.pdf
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Beneficial effect of phosphatidylcholine supplementation in alleviation of hypomania and insomnia in a Chinese bipolar hypomanic boy and a possible explanation to the effect at the genetic level.

Springerplus
Rao, Shitao S; Lam, Marco H B MH; Wing, Yun Kwok YK; Yim, Larina C L LC; Chu, Winnie C W WC; Yeung, Venus S Y VS; Waye, Mary M Y MM
Publication Date: 2015

Variant appearance in text: rs1012053
PubMed Link: 26120503
Variant Present in the following documents:
  • Main text
  • 40064_2015_Article_1002.pdf
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Molecular actions and clinical pharmacogenetics of lithium therapy.

Pharmacology, Biochemistry, And Behavior
Can, Adem A; Schulze, Thomas G TG; Gould, Todd D TD
Publication Date: 2014-08

Variant appearance in text: rs1012053
PubMed Link: 24534415
Variant Present in the following documents:
  • Main text
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Genetic variants on 3q21 and in the Sp8 transcription factor gene (SP8) as susceptibility loci for psychotic disorders: a genetic association study.

Plos One
Kondo, Kenji K; Ikeda, Masashi M; Kajio, Yusuke Y; Saito, Takeo T; Iwayama, Yoshimi Y; Aleksic, Branko B; Yamada, Kazuo K; Toyota, Tomoko T; Hattori, Eiji E; Ujike, Hiroshi H; Inada, Toshiya T; Kunugi, Hiroshi H; Kato, Tadafumi T; Yoshikawa, Takeo T; Ozaki, Norio N; Iwata, Nakao N
Publication Date: 2013

Variant appearance in text: rs1012053
PubMed Link: 23967141
Variant Present in the following documents:
  • Main text
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A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Biological Psychiatry
, ; , ; Bramon, Elvira E; Pirinen, Matti M; Strange, Amy A; Lin, Kuang K; Freeman, Colin C; Bellenguez, Céline C; Su, Zhan Z; Band, Gavin G; Pearson, Richard R; Vukcevic, Damjan D; Langford, Cordelia C; Deloukas, Panos P; Hunt, Sarah S; Gray, Emma E; Dronov, Serge S; Potter, Simon C SC; Tashakkori-Ghanbaria, Avazeh A; Edkins, Sarah S; Bumpstead, Suzannah J SJ; Arranz, Maria J MJ; Bakker, Steven S; Bender, Stephan S; Bruggeman, Richard R; Cahn, Wiepke W; Chandler, David D; Collier, David A DA; Crespo-Facorro, Benedicto B; Dazzan, Paola P; de Haan, Lieuwe L; Di Forti, Marta M; Dragović, Milan M; Giegling, Ina I; Hall, Jeremy J; Iyegbe, Conrad C; Jablensky, Assen A; Kahn, René S RS; Kalaydjieva, Luba L; Kravariti, Eugenia E; Lawrie, Stephen S; Linszen, Don H DH; Mata, Ignacio I; McDonald, Colm C; McIntosh, Andrew A; Myin-Germeys, Inez I; Ophoff, Roel A RA; Pariante, Carmine M CM; Paunio, Tiina T; Picchioni, Marco M; , ; Ripke, Stephan S; Rujescu, Dan D; Sauer, Heinrich H; Shaikh, Madiha M; Sussmann, Jessika J; Suvisaari, Jaana J; Tosato, Sarah S; Toulopoulou, Timothea T; Van Os, Jim J; Walshe, Muriel M; Weisbrod, Matthias M; Whalley, Heather H; Wiersma, Durk D; Blackwell, Jenefer M JM; Brown, Matthew A MA; Casas, Juan P JP; Corvin, Aiden A; Duncanson, Audrey A; Jankowski, Janusz A Z JA; Markus, Hugh S HS; Mathew, Christopher G CG; Palmer, Colin N A CN; Plomin, Robert R; Rautanen, Anna A; Sawcer, Stephen J SJ; Trembath, Richard C RC; Wood, Nicholas W NW; Barroso, Ines I; Peltonen, Leena L; Lewis, Cathryn M CM; Murray, Robin M RM; Donnelly, Peter P; Powell, John J; Spencer, Chris C A CC
Publication Date: 2014-03-01

Variant appearance in text: rs1012053
PubMed Link: 23871474
Variant Present in the following documents:
  • Main text
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Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function, and bipolar disorder susceptibility.

Molecular Psychiatry
Li, M M; Luo, X-J XJ; Rietschel, M M; Lewis, C M CM; Mattheisen, M M; Müller-Myhsok, B B; Jamain, S S; Leboyer, M M; Landén, M M; Thompson, P M PM; Cichon, S S; Nöthen, M M MM; Schulze, T G TG; Sullivan, P F PF; Bergen, S E SE; Donohoe, G G; Morris, D W DW; Hargreaves, A A; Gill, M M; Corvin, A A; Hultman, C C; Toga, A W AW; Shi, L L; Lin, Q Q; Shi, H H; Gan, L L; Meyer-Lindenberg, A A; Czamara, D D; Henry, C C; Etain, B B; Bis, J C JC; Ikram, M A MA; Fornage, M M; Debette, S S; Launer, L J LJ; Seshadri, S S; Erk, S S; Walter, H H; Heinz, A A; Bellivier, F F; Stein, J L JL; Medland, S E SE; Arias Vasquez, A A; Hibar, D P DP; Franke, B B; Martin, N G NG; Wright, M J MJ; , ; , ; , ; , ; , ; Su, B B
Publication Date: 2014-04

Variant appearance in text: rs1012053
PubMed Link: 23568192
Variant Present in the following documents:
  • Main text
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Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs1012053
PubMed Link: 22825589
Variant Present in the following documents:
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Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.

Molecular Psychiatry
Gamazon, E R ER; Badner, J A JA; Cheng, L L; Zhang, C C; Zhang, D D; Cox, N J NJ; Gershon, E S ES; Kelsoe, J R JR; Greenwood, T A TA; Nievergelt, C M CM; Chen, C C; McKinney, R R; Shilling, P D PD; Schork, N J NJ; Smith, E N EN; Bloss, C S CS; Nurnberger, J I JI; Edenberg, H J HJ; Foroud, T T; Koller, D L DL; Scheftner, W A WA; Coryell, W W; Rice, J J; Lawson, W B WB; Nwulia, E A EA; Hipolito, M M; Byerley, W W; McMahon, F J FJ; Schulze, T G TG; Berrettini, W H WH; Potash, J B JB; Zandi, P P PP; Mahon, P B PB; McInnis, M G MG; Zöllner, S S; Zhang, P P; Craig, D W DW; Szelinger, S S; Barrett, T B TB; Liu, C C
Publication Date: 2013-03

Variant appearance in text: rs1012053
PubMed Link: 22212596
Variant Present in the following documents:
  • Main text
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Genome-wide association study in bipolar patients stratified by co-morbidity.

Plos One
Kerner, Berit B; Lambert, Christophe G CG; Muthén, Bengt O BO
Publication Date: 2011

Variant appearance in text: rs1012053
PubMed Link: 22205951
Variant Present in the following documents:
  • Main text
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Effect of variation in diacylglycerol kinase η (DGKH) gene on brain function in a cohort at familial risk of bipolar disorder.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Whalley, Heather C HC; Papmeyer, Martina M; Romaniuk, Liana L; Johnstone, Eve C EC; Hall, Jeremy J; Lawrie, Stephen M SM; Sussmann, Jessika E JE; McIntosh, Andrew M AM
Publication Date: 2012-03

Variant appearance in text: rs1012053
PubMed Link: 22048461
Variant Present in the following documents:
  • Main text
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Efficient replication of over 180 genetic associations with self-reported medical data.

Plos One
Tung, Joyce Y JY; Do, Chuong B CB; Hinds, David A DA; Kiefer, Amy K AK; Macpherson, J Michael JM; Chowdry, Arnab B AB; Francke, Uta U; Naughton, Brian T BT; Mountain, Joanna L JL; Wojcicki, Anne A; Eriksson, Nicholas N
Publication Date: 2011

Variant appearance in text: rs1012053
PubMed Link: 21858135
Variant Present in the following documents:
  • Main text
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Comparative linkage meta-analysis reveals regionally-distinct, disparate genetic architectures: application to bipolar disorder and schizophrenia.

Plos One
Tang, Brady B; Thornton-Wells, Tricia T; Askland, Kathleen D KD
Publication Date: 2011-04-29

Variant appearance in text: rs1012053
PubMed Link: 21559500
Variant Present in the following documents:
  • Main text
  • pone.0019073.pdf
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Dysfunctional gene splicing as a potential contributor to neuropsychiatric disorders.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Glatt, Stephen J SJ; Cohen, Ori S OS; Faraone, Stephen V SV; Tsuang, Ming T MT
Publication Date: 2011-06

Variant appearance in text: rs1012053
PubMed Link: 21438146
Variant Present in the following documents:
  • Main text
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Database of genetic studies of bipolar disorder.

Psychiatric Genetics
Piletz, John E JE; Zhang, Xiaotong X; Ranade, Rajdeep R; Liu, Chunyu C
Publication Date: 2011-04

Variant appearance in text: rs1012053
PubMed Link: 21085053
Variant Present in the following documents:
  • Main text
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Increased gene expression of diacylglycerol kinase η in bipolar disorder.

The International Journal Of Neuropsychopharmacology
Moya, Pablo R PR; Murphy, Dennis L DL; McMahon, Francis J FJ; Wendland, Jens R JR
Publication Date: 2010-09

Variant appearance in text: rs1012053
PubMed Link: 20519059
Variant Present in the following documents:
  • Main text
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New findings in the genetics of major psychoses.

Dialogues In Clinical Neuroscience
Nöthen, Markus M MM; Nieratschker, Vanessa V; Cichon, Sven S; Rietschel, Marcella M
Publication Date: 2010

Variant appearance in text: rs1012053
PubMed Link: 20373670
Variant Present in the following documents:
  • Main text
  • DialoguesClinNeurosci-12-85.pdf
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Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Scott, Laura J LJ; Muglia, Pierandrea P; Kong, Xiangyang Q XQ; Guan, Weihua W; Flickinger, Matthew M; Upmanyu, Ruchi R; Tozzi, Federica F; Li, Jun Z JZ; Burmeister, Margit M; Absher, Devin D; Thompson, Robert C RC; Francks, Clyde C; Meng, Fan F; Antoniades, Athos A; Southwick, Audrey M AM; Schatzberg, Alan F AF; Bunney, William E WE; Barchas, Jack D JD; Jones, Edward G EG; Day, Richard R; Matthews, Keith K; McGuffin, Peter P; Strauss, John S JS; Kennedy, James L JL; Middleton, Lefkos L; Roses, Allen D AD; Watson, Stanley J SJ; Vincent, John B JB; Myers, Richard M RM; Farmer, Ann E AE; Akil, Huda H; Burns, Daniel K DK; Boehnke, Michael M
Publication Date: 2009-05-05

Variant appearance in text: rs1012053
PubMed Link: 19416921
Variant Present in the following documents:
  • Main text
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The genetics of bipolar disorder.

Neuroscience
Barnett, J H JH; Smoller, J W JW
Publication Date: 2009-11-24

Variant appearance in text: rs1012053
PubMed Link: 19358880
Variant Present in the following documents:
  • Main text
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Meta-analysis of two genome-wide association studies of bipolar disorder reveals important points of agreement.

Molecular Psychiatry
Baum, A E AE; Hamshere, M M; Green, E E; Cichon, S S; Rietschel, M M; Noethen, M M MM; Craddock, N N; McMahon, F J FJ
Publication Date: 2008-05

Variant appearance in text: rs1012053
PubMed Link: 18421293
Variant Present in the following documents:
  • Main text
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A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.

Molecular Psychiatry
Baum, A E AE; Akula, N N; Cabanero, M M; Cardona, I I; Corona, W W; Klemens, B B; Schulze, T G TG; Cichon, S S; Rietschel, M M; Nöthen, M M MM; Georgi, A A; Schumacher, J J; Schwarz, M M; Abou Jamra, R R; Höfels, S S; Propping, P P; Satagopan, J J; Detera-Wadleigh, S D SD; Hardy, J J; McMahon, F J FJ
Publication Date: 2008-02

Variant appearance in text: rs1012053
PubMed Link: 17486107
Variant Present in the following documents:
  • Main text
View BVdb publication page