ZBTB17 c.-3+222G>A

Variant ID: 1-16299312-C-T

NM_003443.3(ZBTB17):c.-3+222G>A

This variant was identified in 15 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: rs10927875
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Publication Date: 2021-02

Variant appearance in text: rs10927875
PubMed Link: 33495596
Variant Present in the following documents:
  • Main text
  • EMS114661.pdf
View BVdb publication page



Advances in the Genetics and Genomics of Heart Failure.

Current Cardiology Reports
Reza, Nosheen N; Owens, Anjali Tiku AT
Publication Date: 2020-09-10

Variant appearance in text: rs10927875
PubMed Link: 32910329
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic association study of heart failure: more evidence for the role of BAG3 in idiopathic dilated cardiomyopathy.

Esc Heart Failure
de Denus, Simon S; Mottet, Fannie F; Korol, Sandra S; Feroz Zada, Yassamin Y; Provost, Sylvie S; Mongrain, Ian I; Asselin, Géraldine G; Oussaïd, Essaïd E; Busseuil, David D; Lettre, Guillaume G; Rioux, John J; Racine, Normand N; O'Meara, Eileen E; White, Michel M; Rouleau, Jean J; Tardif, Jean Claude JC; Dubé, Marie-Pierre MP
Publication Date: 2020-12

Variant appearance in text: rs10927875
PubMed Link: 32869539
Variant Present in the following documents:
  • Main text
  • EHF2-7-4384.pdf
View BVdb publication page



A genetic association study of heart failure: more evidence for the role of BAG3 in idiopathic dilated cardiomyopathy.

Esc Heart Failure
de Denus, Simon S; Mottet, Fannie F; Korol, Sandra S; Feroz Zada, Yassamin Y; Provost, Sylvie S; Mongrain, Ian I; Asselin, Géraldine G; Oussaïd, Essaïd E; Busseuil, David D; Lettre, Guillaume G; Rioux, John J; Racine, Normand N; O'Meara, Eileen E; White, Michel M; Rouleau, Jean J; Tardif, Jean Claude JC; Dubé, Marie-Pierre MP
Publication Date: 2020-09-01

Variant appearance in text: rs10927875
PubMed Link: 32869539
Variant Present in the following documents:
  • Main text
  • EHF2-7-4384.pdf
View BVdb publication page



Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Nature Communications
Pirruccello, James P JP; Bick, Alexander A; Wang, Minxian M; Chaffin, Mark M; Friedman, Samuel S; Yao, Jie J; Guo, Xiuqing X; Venkatesh, Bharath Ambale BA; Taylor, Kent D KD; Post, Wendy S WS; Rich, Stephen S; Lima, Joao A C JAC; Rotter, Jerome I JI; Philippakis, Anthony A; Lubitz, Steven A SA; Ellinor, Patrick T PT; Khera, Amit V AV; Kathiresan, Sekar S; Aragam, Krishna G KG
Publication Date: 2020-05-07

Variant appearance in text: rs10927875
PubMed Link: 32382064
Variant Present in the following documents:
  • 41467_2020_15823_MOESM1_ESM.pdf
View BVdb publication page



Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.

Circulation
Aragam, Krishna G KG; Chaffin, Mark M; Levinson, Rebecca T RT; McDermott, Gregory G; Choi, Seung-Hoan SH; Shoemaker, M Benjamin MB; Haas, Mary E ME; Weng, Lu-Chen LC; Lindsay, Mark E ME; Smith, J Gustav JG; Newton-Cheh, Christopher C; Roden, Dan M DM; London, Barry B; Wells, Quinn S QS; Ellinor, Patrick T PT; Kathiresan, Sekar S; Lubitz, Steven A SA; ,
Publication Date: 2018-11-11

Variant appearance in text: rs10927875
PubMed Link: 30586722
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans.

Journal Of Personalized Medicine
Xu, Huichun H; Dorn, Gerald W GW; Shetty, Amol A; Parihar, Ankita A; Dave, Tushar T; Robinson, Shawn W SW; Gottlieb, Stephen S SS; Donahue, Mark P MP; Tomaselli, Gordon F GF; Kraus, William E WE; Mitchell, Braxton D BD; Liggett, Stephen B SB
Publication Date: 2018-02-26

Variant appearance in text: rs10927875
PubMed Link: 29495422
Variant Present in the following documents:
  • jpm-08-00011-s001.pdf
View BVdb publication page



Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study.

International Journal Of Cardiology. Heart & Vasculature
Banerjee, Avinanda A; Ghoshal, Pradip K PK; Sengupta, Kaushik K
Publication Date: 2015-06-01

Variant appearance in text: rs10927875
PubMed Link: 28785654
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

Plos One
Esslinger, Ulrike U; Garnier, Sophie S; Korniat, Agathe A; Proust, Carole C; Kararigas, Georgios G; Müller-Nurasyid, Martina M; Empana, Jean-Philippe JP; Morley, Michael P MP; Perret, Claire C; Stark, Klaus K; Bick, Alexander G AG; Prasad, Sanjay K SK; Kriebel, Jennifer J; Li, Jin J; Tiret, Laurence L; Strauch, Konstantin K; O'Regan, Declan P DP; Marguiles, Kenneth B KB; Seidman, Jonathan G JG; Boutouyrie, Pierre P; Lacolley, Patrick P; Jouven, Xavier X; Hengstenberg, Christian C; Komajda, Michel M; Hakonarson, Hakon H; Isnard, Richard R; Arbustini, Eloisa E; Grallert, Harald H; Cook, Stuart A SA; Seidman, Christine E CE; Regitz-Zagrosek, Vera V; Cappola, Thomas P TP; Charron, Philippe P; Cambien, François F; Villard, Eric E
Publication Date: 2017

Variant appearance in text: ZBTB17: -3+222G>A; rs10927875
PubMed Link: 28296976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and genomics of dilated cardiomyopathy and systolic heart failure.

Genome Medicine
Tayal, Upasana U; Prasad, Sanjay S; Cook, Stuart A SA
Publication Date: 2017-02-22

Variant appearance in text: rs10927875
PubMed Link: 28228157
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_410.pdf
View BVdb publication page



Common Variants for Heart Failure.

Current Genomics
Shen, Shutong S; Tao, Lichan L; Wang, Xiuzhi X; Kong, Xiangqing X; Li, Xinli X
Publication Date: 2015-04

Variant appearance in text: rs10927875
PubMed Link: 26085806
Variant Present in the following documents:
  • Main text
  • CG-16-82.pdf
View BVdb publication page



TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population.

Biomed Research International
Li, Xiaoping X; Wang, Huan H; Luo, Rong R; Gu, Haiyong H; Zhang, Channa C; Zhang, Yu Y; Hui, Rutai R; Wu, Xiushan X; Hua, Wei W
Publication Date: 2013

Variant appearance in text: rs10927875
PubMed Link: 23586019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population.

European Journal Of Medical Research
Li, Xiaoping X; Luo, Rong R; Mo, Xiaoyang X; Jiang, Rongjian R; Kong, Hong H; Hua, Wei W; Wu, Xiushan X
Publication Date: 2013-04-09

Variant appearance in text: rs10927875
PubMed Link: 23570452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases.

Journal Of The American Medical Informatics Association : Jamia
Lee, Younghee Y; Li, Haiquan H; Li, Jianrong J; Rebman, Ellen E; Achour, Ikbel I; Regan, Kelly E KE; Gamazon, Eric R ER; Chen, James L JL; Yang, Xinan Holly XH; Cox, Nancy J NJ; Lussier, Yves A YA
Publication Date: 2013

Variant appearance in text: rs10927875
PubMed Link: 23355459
Variant Present in the following documents:
  • amiajnl-2012-001519-s1.pdf
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A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

European Heart Journal
Villard, Eric E; Perret, Claire C; Gary, Françoise F; Proust, Carole C; Dilanian, Gilles G; Hengstenberg, Christian C; Ruppert, Volker V; Arbustini, Eloisa E; Wichter, Thomas T; Germain, Marine M; Dubourg, Olivier O; Tavazzi, Luigi L; Aumont, Marie-Claude MC; DeGroote, Pascal P; Fauchier, Laurent L; Trochu, Jean-Noël JN; Gibelin, Pierre P; Aupetit, Jean-François JF; Stark, Klaus K; Erdmann, Jeanette J; Hetzer, Roland R; Roberts, Angharad M AM; Barton, Paul J R PJ; Regitz-Zagrosek, Vera V; , ; Aslam, Uzma U; Duboscq-Bidot, Laëtitia L; Meyborg, Matthias M; Maisch, Bernhard B; Madeira, Hugo H; Waldenström, Anders A; Galve, Enrique E; Cleland, John G JG; Dorent, Richard R; Roizes, Gerard G; Zeller, Tanja T; Blankenberg, Stefan S; Goodall, Alison H AH; Cook, Stuart S; Tregouet, David A DA; Tiret, Laurence L; Isnard, Richard R; Komajda, Michel M; Charron, Philippe P; Cambien, François F
Publication Date: 2011-05

Variant appearance in text: rs10927875
PubMed Link: 21459883
Variant Present in the following documents:
  • Main text
View BVdb publication page