DGKQ c.351+422G>A

Variant ID: 4-964359-C-T

NM_001347.3(DGKQ):c.351+422G>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: rs11248060
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Alpha-Synuclein and Lipids: The Elephant in the Room?

Cells
Sarchione, Alessia A; Marchand, Antoine A; Taymans, Jean-Marc JM; Chartier-Harlin, Marie-Christine MC
Publication Date: 2021-09-17

Variant appearance in text: rs11248060
PubMed Link: 34572099
Variant Present in the following documents:
  • cells-10-02452.pdf
View BVdb publication page



Mitochondrial Ca2+ Signaling in Health, Disease and Therapy.

Cells
Modesti, Lorenzo L; Danese, Alberto A; Angela Maria Vitto, Veronica V; Ramaccini, Daniela D; Aguiari, Gianluca G; Gafà, Roberta R; Lanza, Giovanni G; Giorgi, Carlotta C; Pinton, Paolo P
Publication Date: 2021-05-25

Variant appearance in text: rs11248060
PubMed Link: 34070562
Variant Present in the following documents:
  • Main text
  • cells-10-01317.pdf
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Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.

Faseb Bioadvances
Quilter, Claire R CR; Harvey, Kerry M KM; Bauer, Julien J; Skinner, Benjamin M BM; Gomez, Maria M; Shrivastava, Manu M; Doel, Andrew M AM; Drammeh, Saikou S; Dunger, David B DB; Moore, Sophie E SE; Ong, Ken K KK; Prentice, Andrew M AM; Bernstein, Robin M RM; Sargent, Carole A CA; Affara, Nabeel A NA
Publication Date: 2021-04

Variant appearance in text: rs11248060
PubMed Link: 33842847
Variant Present in the following documents:
  • FBA2-3-205-s004.xlsx, sheet 3
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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: rs11248060
PubMed Link: 32947951
Variant Present in the following documents:
  • Main text
  • ijms-21-06794.pdf
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The Role of Lipids in Parkinson's Disease.

Cells
Xicoy, Helena H; Wieringa, Bé B; Martens, Gerard J M GJM
Publication Date: 2019-01-07

Variant appearance in text: rs11248060
PubMed Link: 30621069
Variant Present in the following documents:
  • cells-08-00027.pdf
View BVdb publication page



Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation.

The Lancet. Neurology
Latourelle, Jeanne C JC; Beste, Michael T MT; Hadzi, Tiffany C TC; Miller, Robert E RE; Oppenheim, Jacob N JN; Valko, Matthew P MP; Wuest, Diane M DM; Church, Bruce W BW; Khalil, Iya G IG; Hayete, Boris B; Venuto, Charles S CS
Publication Date: 2017-11

Variant appearance in text: rs11248060
PubMed Link: 28958801
Variant Present in the following documents:
  • NIHMS910076-supplement.pdf
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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science
Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR
Publication Date: 2017-02

Variant appearance in text: rs11248060
PubMed Link: 28386409
Variant Present in the following documents:
  • rsos160254supp3.xlsx, sheet 1
  • rsos160254supp3.xlsx, sheet 9
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Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Frontiers In Aging Neuroscience
Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2017

Variant appearance in text: rs11248060
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
View BVdb publication page



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: rs11248060
PubMed Link: 27583247
Variant Present in the following documents:
  • Main text
  • fcell-04-00082.pdf
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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One
Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F
Publication Date: 2016

Variant appearance in text: rs11248060
PubMed Link: 27336301
Variant Present in the following documents:
  • pone.0158064.s002.xlsx, sheet 8
View BVdb publication page



The role of innate and adaptive immunity in Parkinson's disease.

Journal Of Parkinson'S Disease
Kannarkat, George T GT; Boss, Jeremy M JM; Tansey, Malú G MG
Publication Date: 2013

Variant appearance in text: rs11248060
PubMed Link: 24275605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of Parkinson's disease risk loci in Greece.

Neurobiology Of Aging
Kara, Eleanna E; Xiromerisiou, Georgia G; Spanaki, Cleanthe C; Bozi, Maria M; Koutsis, Georgios G; Panas, Marios M; Dardiotis, Efthimios E; Ralli, Styliani S; Bras, Jose J; Letson, Christopher C; Edsall, Connor C; Pliner, Hannah H; Arepalli, Sampath S; Kalinderi, Kallirhoe K; Fidani, Liana L; Bostantjopoulou, Sevasti S; Keller, Margaux F MF; Wood, Nicholas W NW; Hardy, John J; Houlden, Henry H; Stefanis, Leonidas L; Plaitakis, Andreas A; Hernandez, Dena D; Hadjigeorgiou, Georgios M GM; Nalls, Mike A MA; Singleton, Andrew B AB
Publication Date: 2014-02

Variant appearance in text: rs11248060
PubMed Link: 24080174
Variant Present in the following documents:
  • Main text
View BVdb publication page



A prognostic view on the application of individualized genomics in Parkinson's disease.

Current Genetic Medicine Reports
Ross, Owen A OA
Publication Date: 2013-03

Variant appearance in text: rs11248060
PubMed Link: 23504498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

Human Molecular Genetics
Keller, Margaux F MF; Saad, Mohamad M; Bras, Jose J; Bettella, Francesco F; Nicolaou, Nayia N; Simón-Sánchez, Javier J; Mittag, Florian F; Büchel, Finja F; Sharma, Manu M; Gibbs, J Raphael JR; Schulte, Claudia C; Moskvina, Valentina V; Durr, Alexandra A; Holmans, Peter P; Kilarski, Laura L LL; Guerreiro, Rita R; Hernandez, Dena G DG; Brice, Alexis A; Ylikotila, Pauli P; Stefánsson, Hreinn H; Majamaa, Kari K; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nicholas W NW; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; Nalls, Michael A MA; , ; ,
Publication Date: 2012-11-15

Variant appearance in text: rs11248060
PubMed Link: 22892372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

Annals Of Neurology
Pankratz, Nathan N; Beecham, Gary W GW; DeStefano, Anita L AL; Dawson, Ted M TM; Doheny, Kimberly F KF; Factor, Stewart A SA; Hamza, Taye H TH; Hung, Albert Y AY; Hyman, Bradley T BT; Ivinson, Adrian J AJ; Krainc, Dmitri D; Latourelle, Jeanne C JC; Clark, Lorraine N LN; Marder, Karen K; Martin, Eden R ER; Mayeux, Richard R; Ross, Owen A OA; Scherzer, Clemens R CR; Simon, David K DK; Tanner, Caroline C; Vance, Jeffery M JM; Wszolek, Zbigniew K ZK; Zabetian, Cyrus P CP; Myers, Richard H RH; Payami, Haydeh H; Scott, William K WK; Foroud, Tatiana T; ,
Publication Date: 2012-03

Variant appearance in text: rs11248060
PubMed Link: 22451204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

Plos Genetics
Lill, Christina M CM; Roehr, Johannes T JT; McQueen, Matthew B MB; Kavvoura, Fotini K FK; Bagade, Sachin S; Schjeide, Brit-Maren M BM; Schjeide, Leif M LM; Meissner, Esther E; Zauft, Ute U; Allen, Nicole C NC; Liu, Tian T; Schilling, Marcel M; Anderson, Kari J KJ; Beecham, Gary G; Berg, Daniela D; Biernacka, Joanna M JM; Brice, Alexis A; DeStefano, Anita L AL; Do, Chuong B CB; Eriksson, Nicholas N; Factor, Stewart A SA; Farrer, Matthew J MJ; Foroud, Tatiana T; Gasser, Thomas T; Hamza, Taye T; Hardy, John A JA; Heutink, Peter P; Hill-Burns, Erin M EM; Klein, Christine C; Latourelle, Jeanne C JC; Maraganore, Demetrius M DM; Martin, Eden R ER; Martinez, Maria M; Myers, Richard H RH; Nalls, Michael A MA; Pankratz, Nathan N; Payami, Haydeh H; Satake, Wataru W; Scott, William K WK; Sharma, Manu M; Singleton, Andrew B AB; Stefansson, Kari K; Toda, Tatsushi T; Tung, Joyce Y JY; Vance, Jeffery J; Wood, Nick W NW; Zabetian, Cyrus P CP; , ; , ; , ; , ; Young, Peter P; Tanzi, Rudolph E RE; Khoury, Muin J MJ; Zipp, Frauke F; Lehrach, Hans H; Ioannidis, John P A JP; Bertram, Lars L
Publication Date: 2012

Variant appearance in text: rs11248060
PubMed Link: 22438815
Variant Present in the following documents:
  • Main text
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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Plos Genetics
Do, Chuong B CB; Tung, Joyce Y JY; Dorfman, Elizabeth E; Kiefer, Amy K AK; Drabant, Emily M EM; Francke, Uta U; Mountain, Joanna L JL; Goldman, Samuel M SM; Tanner, Caroline M CM; Langston, J William JW; Wojcicki, Anne A; Eriksson, Nicholas N
Publication Date: 2011-06

Variant appearance in text: rs11248060
PubMed Link: 21738487
Variant Present in the following documents:
  • Main text
  • pgen.1002141.pdf
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Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Mata, Ignacio F IF; Yearout, Dora D; Alvarez, Victoria V; Coto, Eliecer E; de Mena, Lorena L; Ribacoba, Renee R; Lorenzo-Betancor, Oswaldo O; Samaranch, Lluis L; Pastor, Pau P; Cervantes, Sebastian S; Infante, Jon J; Garcia-Gorostiaga, Ines I; Sierra, Maria M; Combarros, Onofre O; Snapinn, Katherine W KW; Edwards, Karen L KL; Zabetian, Cyrus P CP
Publication Date: 2011-04

Variant appearance in text: rs11248060
PubMed Link: 21425343
Variant Present in the following documents:
  • Main text
View BVdb publication page



A unified framework for multi-locus association analysis of both common and rare variants.

Bmc Genomics
Shriner, Daniel D; Vaughan, Laura Kelly LK
Publication Date: 2011-01-31

Variant appearance in text: rs11248060
PubMed Link: 21281506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study confirms extant PD risk loci among the Dutch.

European Journal Of Human Genetics : Ejhg
Simón-Sánchez, Javier J; van Hilten, Jacobus J JJ; van de Warrenburg, Bart B; Post, Bart B; Berendse, Henk W HW; Arepalli, Sampath S; Hernandez, Dena G DG; de Bie, Rob M A RM; Velseboer, Daan D; Scheffer, Hans H; Bloem, Bas B; van Dijk, Karin D KD; Rivadeneira, Fernando F; Hofman, Albert A; Uitterlinden, André G AG; Rizzu, Patrizia P; Bochdanovits, Zoltan Z; Singleton, Andrew B AB; Heutink, Peter P
Publication Date: 2011-06

Variant appearance in text: rs11248060
PubMed Link: 21248740
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Parkinson disease.

Journal Of Geriatric Psychiatry And Neurology
Bekris, Lynn M LM; Mata, Ignacio F IF; Zabetian, Cyrus P CP
Publication Date: 2010-12

Variant appearance in text: rs11248060
PubMed Link: 20938043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

Nature Genetics
Hamza, Taye H TH; Zabetian, Cyrus P CP; Tenesa, Albert A; Laederach, Alain A; Montimurro, Jennifer J; Yearout, Dora D; Kay, Denise M DM; Doheny, Kimberly F KF; Paschall, Justin J; Pugh, Elizabeth E; Kusel, Victoria I VI; Collura, Randall R; Roberts, John J; Griffith, Alida A; Samii, Ali A; Scott, William K WK; Nutt, John J; Factor, Stewart A SA; Payami, Haydeh H
Publication Date: 2010-09

Variant appearance in text: rs11248060
PubMed Link: 20711177
Variant Present in the following documents:
  • NIHMS222438-supplement-1.pdf
View BVdb publication page



Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

Annals Of Human Genetics
Edwards, Todd L TL; Scott, William K WK; Almonte, Cherylyn C; Burt, Amber A; Powell, Eric H EH; Beecham, Gary W GW; Wang, Liyong L; Züchner, Stephan S; Konidari, Ioanna I; Wang, Gaofeng G; Singer, Carlos C; Nahab, Fatta F; Scott, Burton B; Stajich, Jeffrey M JM; Pericak-Vance, Margaret M; Haines, Jonathan J; Vance, Jeffery M JM; Martin, Eden R ER
Publication Date: 2010-03

Variant appearance in text: rs11248060
PubMed Link: 20070850
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Human Genetics
Pankratz, Nathan N; Wilk, Jemma B JB; Latourelle, Jeanne C JC; DeStefano, Anita L AL; Halter, Cheryl C; Pugh, Elizabeth W EW; Doheny, Kimberly F KF; Gusella, James F JF; Nichols, William C WC; Foroud, Tatiana T; Myers, Richard H RH; ,
Publication Date: 2009-01

Variant appearance in text: rs11248060
PubMed Link: 18985386
Variant Present in the following documents:
  • Main text
View BVdb publication page