EDNRA c.420+399C>T

Variant ID: 4-148407652-C-T

NM_001957.3(EDNRA):c.420+399C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: EDNRA: 420+399C>T; rs6841473
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Evaluation of single nucleotide polymorphisms in 6 candidate genes and carotid intima-media thickness in community-dwelling residents.

Plos One
Wu, Fang-Yang FY; Li, Chia-Ing CI; Liao, Li-Na LN; Liu, Chiu-Shong CS; Lin, Wen-Yuan WY; Lin, Chih-Hsueh CH; Yang, Chuan-Wei CW; Li, Tsai-Chung TC; Lin, Cheng-Chieh CC
Publication Date: 2020

Variant appearance in text: rs6841473
PubMed Link: 32214403
Variant Present in the following documents:
  • Main text
  • pone.0230715.pdf
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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

Nature Communications
Franceschini, Nora N; Giambartolomei, Claudia C; de Vries, Paul S PS; Finan, Chris C; Bis, Joshua C JC; Huntley, Rachael P RP; Lovering, Ruth C RC; Tajuddin, Salman M SM; Winkler, Thomas W TW; Graff, Misa M; Kavousi, Maryam M; Dale, Caroline C; Smith, Albert V AV; Hofer, Edith E; van Leeuwen, Elisabeth M EM; Nolte, Ilja M IM; Lu, Lingyi L; Scholz, Markus M; Sargurupremraj, Muralidharan M; Pitkänen, Niina N; Franzén, Oscar O; Joshi, Peter K PK; Noordam, Raymond R; Marioni, Riccardo E RE; Hwang, Shih-Jen SJ; Musani, Solomon K SK; Schminke, Ulf U; Palmas, Walter W; Isaacs, Aaron A; Correa, Adolfo A; Zonderman, Alan B AB; Hofman, Albert A; Teumer, Alexander A; Cox, Amanda J AJ; Uitterlinden, André G AG; Wong, Andrew A; Smit, Andries J AJ; Newman, Anne B AB; Britton, Annie A; Ruusalepp, Arno A; Sennblad, Bengt B; Hedblad, Bo B; Pasaniuc, Bogdan B; Penninx, Brenda W BW; Langefeld, Carl D CD; Wassel, Christina L CL; Tzourio, Christophe C; Fava, Cristiano C; Baldassarre, Damiano D; O'Leary, Daniel H DH; Teupser, Daniel D; Kuh, Diana D; Tremoli, Elena E; Mannarino, Elmo E; Grossi, Enzo E; Boerwinkle, Eric E; Schadt, Eric E EE; Ingelsson, Erik E; Veglia, Fabrizio F; Rivadeneira, Fernando F; Beutner, Frank F; Chauhan, Ganesh G; Heiss, Gerardo G; Snieder, Harold H; Campbell, Harry H; Völzke, Henry H; Markus, Hugh S HS; Deary, Ian J IJ; Jukema, J Wouter JW; de Graaf, Jacqueline J; Price, Jacqueline J; Pott, Janne J; Hopewell, Jemma C JC; Liang, Jingjing J; Thiery, Joachim J; Engmann, Jorgen J; Gertow, Karl K; Rice, Kenneth K; Taylor, Kent D KD; Dhana, Klodian K; Kiemeney, Lambertus A L M LALM; Lind, Lars L; Raffield, Laura M LM; Launer, Lenore J LJ; Holdt, Lesca M LM; Dörr, Marcus M; Dichgans, Martin M; Traylor, Matthew M; Sitzer, Matthias M; Kumari, Meena M; Kivimaki, Mika M; Nalls, Mike A MA; Melander, Olle O; Raitakari, Olli O; Franco, Oscar H OH; Rueda-Ochoa, Oscar L OL; Roussos, Panos P; Whincup, Peter H PH; Amouyel, Philippe P; Giral, Philippe P; Anugu, Pramod P; Wong, Quenna Q; Malik, Rainer R; Rauramaa, Rainer R; Burkhardt, Ralph R; Hardy, Rebecca R; Schmidt, Reinhold R; de Mutsert, Renée R; Morris, Richard W RW; Strawbridge, Rona J RJ; Wannamethee, S Goya SG; Hägg, Sara S; Shah, Sonia S; McLachlan, Stela S; Trompet, Stella S; Seshadri, Sudha S; Kurl, Sudhir S; Heckbert, Susan R SR; Ring, Susan S; Harris, Tamara B TB; Lehtimäki, Terho T; Galesloot, Tessel E TE; Shah, Tina T; de Faire, Ulf U; Plagnol, Vincent V; Rosamond, Wayne D WD; Post, Wendy W; Zhu, Xiaofeng X; Zhang, Xiaoling X; Guo, Xiuqing X; Saba, Yasaman Y; , ; Dehghan, Abbas A; Seldenrijk, Adrie A; Morrison, Alanna C AC; Hamsten, Anders A; Psaty, Bruce M BM; van Duijn, Cornelia M CM; Lawlor, Deborah A DA; Mook-Kanamori, Dennis O DO; Bowden, Donald W DW; Schmidt, Helena H; Wilson, James F JF; Wilson, James G JG; Rotter, Jerome I JI; Wardlaw, Joanna M JM; Deanfield, John J; Halcox, Julian J; Lyytikäinen, Leo-Pekka LP; Loeffler, Markus M; Evans, Michele K MK; Debette, Stéphanie S; Humphries, Steve E SE; Völker, Uwe U; Gudnason, Vilmundur V; Hingorani, Aroon D AD; Björkegren, Johan L M JLM; Casas, Juan P JP; O'Donnell, Christopher J CJ
Publication Date: 2018-12-03

Variant appearance in text: rs6841473
PubMed Link: 30510157
Variant Present in the following documents:
  • 41467_2018_7340_MOESM1_ESM.pdf
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Associations of EDNRA and EDN1 polymorphisms with carotid intima media thickness through interactions with gender, regular exercise, and obesity in subjects in Taiwan: Taichung Community Health Study (TCHS).

Biomedicine
Li, Tsai-Chung TC; Li, Chia-Ing CI; Liao, Li-Na LN; Liu, Chiu-Shong CS; Yang, Chuan-Wei CW; Lin, Chih-Hsueh CH; Hsiao, Jen-Hao JH; Hsiao, Chih-Yi CY; Lin, Wen-Yuan WY; Wu, Fang-Yang FY; Lin, Cheng-Chieh CC
Publication Date: 2015-05

Variant appearance in text: rs6841473
PubMed Link: 26040574
Variant Present in the following documents:
  • Main text
  • 40681_2015_Article_8.pdf
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Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

American Journal Of Human Genetics
Gordon, Christopher T CT; Weaver, K Nicole KN; Zechi-Ceide, Roseli Maria RM; Madsen, Erik C EC; Tavares, Andre L P AL; Oufadem, Myriam M; Kurihara, Yukiko Y; Adameyko, Igor I; Picard, Arnaud A; Breton, Sylvain S; Pierrot, Sébastien S; Biosse-Duplan, Martin M; Voisin, Norine N; Masson, Cécile C; Bole-Feysot, Christine C; Nitschké, Patrick P; Delrue, Marie-Ange MA; Lacombe, Didier D; Guion-Almeida, Maria Leine ML; Moura, Priscila Padilha PP; Garib, Daniela Gamba DG; Munnich, Arnold A; Ernfors, Patrik P; Hufnagel, Robert B RB; Hopkin, Robert J RJ; Kurihara, Hiroki H; Saal, Howard M HM; Weaver, David D DD; Katsanis, Nicholas N; Lyonnet, Stanislas S; Golzio, Christelle C; Clouthier, David E DE; Amiel, Jeanne J
Publication Date: 2015-04-02

Variant appearance in text: rs6841473
PubMed Link: 25772936
Variant Present in the following documents:
  • Main text
View BVdb publication page