ANTXR2 c.866+6302A>T

Variant ID: 4-80946475-T-A

NM_058172.5(ANTXR2):c.866+6302A>T

This variant was identified in 11 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: rs4389526
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Transcriptome-Wide Association Studies and Integration Analysis of mRNA Expression Profiles Identify Candidate Genes and Pathways Associated With Ankylosing Spondylitis.

Frontiers In Immunology
Feng, Ruoyang R; Lu, Mengnan M; Liu, Lin L; Xu, Ke K; Xu, Peng P
Publication Date: 2022

Variant appearance in text: rs4389526
PubMed Link: 35619696
Variant Present in the following documents:
  • Main text
  • fimmu-13-814303.pdf
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Case-Control Study and Meta-Analysis Show a Weak Association between ANTXR2 Polymorphisms and Ankylosing Spondylitis in Chinese Han.

Biomed Research International
Hu, Jiayue J; Du, Liping L; Su, Wencheng W; Liu, Shengyun S; Deng, Jing J; Cao, Qinfeng Q; Yuan, Gangxiang G; Kijlstra, Aize A; Yang, Peizeng P
Publication Date: 2018

Variant appearance in text: rs4389526
PubMed Link: 30255098
Variant Present in the following documents:
  • Main text
  • BMRI2018-8365173.pdf
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A Variant in RUNX3 Is Associated with the Risk of Ankylosing Spondylitis in Koreans.

Genomics & Informatics
Cho, Sung-Min SM; Jung, Seung-Hyun SH; Chung, Yeun-Jun YJ
Publication Date: 2017-06

Variant appearance in text: rs4389526
PubMed Link: 28638311
Variant Present in the following documents:
  • Main text
  • gni-15-65.pdf
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Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province.

Chinese Medical Journal
Liu, Jian-Min JM; Cui, Ya-Zhou YZ; Zhang, Geng-Lin GL; Zhou, Xiao-Yan XY; Pang, Jing-Xiang JX; Wang, Xue-Zheng XZ; Han, Jin-Xiang JX
Publication Date: 2016-03-20

Variant appearance in text: rs4389526
PubMed Link: 26960368
Variant Present in the following documents:
  • CMJ-129-657.pdf
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A meta-analysis of gene expression signatures of blood pressure and hypertension.

Plos Genetics
Huan, Tianxiao T; Esko, Tõnu T; Peters, Marjolein J MJ; Pilling, Luke C LC; Schramm, Katharina K; Schurmann, Claudia C; Chen, Brian H BH; Liu, Chunyu C; Joehanes, Roby R; Johnson, Andrew D AD; Yao, Chen C; Ying, Sai-Xia SX; Courchesne, Paul P; Milani, Lili L; Raghavachari, Nalini N; Wang, Richard R; Liu, Poching P; Reinmaa, Eva E; Dehghan, Abbas A; Hofman, Albert A; Uitterlinden, André G AG; Hernandez, Dena G DG; Bandinelli, Stefania S; Singleton, Andrew A; Melzer, David D; Metspalu, Andres A; Carstensen, Maren M; Grallert, Harald H; Herder, Christian C; Meitinger, Thomas T; Peters, Annette A; Roden, Michael M; Waldenberger, Melanie M; Dörr, Marcus M; Felix, Stephan B SB; Zeller, Tanja T; , ; Vasan, Ramachandran R; O'Donnell, Christopher J CJ; Munson, Peter J PJ; Yang, Xia X; Prokisch, Holger H; Völker, Uwe U; van Meurs, Joyce B J JB; Ferrucci, Luigi L; Levy, Daniel D
Publication Date: 2015-03

Variant appearance in text: rs4389526
PubMed Link: 25785607
Variant Present in the following documents:
  • Main text
  • pgen.1005035.pdf
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Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis.

Arthritis & Rheumatology (Hoboken, N.J.)
Robinson, Philip C PC; Claushuis, Theodora A M TA; Cortes, Adrian A; Martin, Tammy M TM; Evans, David M DM; Leo, Paul P; Mukhopadhyay, Pamela P; Bradbury, Linda A LA; Cremin, Katie K; Harris, Jessica J; Maksymowych, Walter P WP; Inman, Robert D RD; Rahman, Proton P; Haroon, Nigil N; Gensler, Lianne L; Powell, Joseph E JE; van der Horst-Bruinsma, Irene E IE; Hewitt, Alex W AW; Craig, Jamie E JE; Lim, Lyndell L LL; Wakefield, Denis D; McCluskey, Peter P; Voigt, Valentina V; Fleming, Peter P; , ; Degli-Esposti, Mariapia M; Pointon, Jennifer J JJ; Weisman, Michael H MH; Wordsworth, B Paul BP; Reveille, John D JD; Rosenbaum, James T JT; Brown, Matthew A MA
Publication Date: 2015-01

Variant appearance in text: rs4389526
PubMed Link: 25200001
Variant Present in the following documents:
  • Main text
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rs10865331 associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.

Plos One
Wen, Ya-Feng YF; Wei, James Cheng-Chung JC; Hsu, Yu-Wen YW; Chiou, Hung-Yi HY; Wong, Henry Sung-Ching HS; Wong, Ruey-Hong RH; Ikegawa, Shiro S; Chang, Wei-Chiao WC
Publication Date: 2014

Variant appearance in text: rs4389526
PubMed Link: 25184745
Variant Present in the following documents:
  • Main text
  • pone.0104525.pdf
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Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).

Annals Of The Rheumatic Diseases
Karaderi, T T; Keidel, S M SM; Pointon, J J JJ; Appleton, L H LH; Brown, M A MA; Evans, D M DM; Wordsworth, B P BP
Publication Date: 2014-11

Variant appearance in text: rs4389526
PubMed Link: 25169729
Variant Present in the following documents:
  • Main text
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Association study of polymorphisms rs4552569 and rs17095830 and the risk of ankylosing spondylitis in a Taiwanese population.

Plos One
Wei, James Cheng-Chung JC; Hsu, Yu-Wen YW; Hung, Kuo-Sheng KS; Wong, Ruey-Hong RH; Huang, Chun-Huang CH; Liu, Yi-Tzu YT; Guo, Yuh-Cherng YC; Ikegawa, Shiro S; Chang, Wei-Chiao WC
Publication Date: 2013

Variant appearance in text: rs4389526
PubMed Link: 23308121
Variant Present in the following documents:
  • Main text
  • pone.0052801.pdf
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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

Nature Genetics
Evans, David M DM; Spencer, Chris C A CC; Pointon, Jennifer J JJ; Su, Zhan Z; Harvey, David D; Kochan, Grazyna G; Oppermann, Udo U; Opperman, Udo U; Dilthey, Alexander A; Pirinen, Matti M; Stone, Millicent A MA; Appleton, Louise L; Moutsianas, Loukas L; Moutsianis, Loukas L; Leslie, Stephen S; Wordsworth, Tom T; Kenna, Tony J TJ; Karaderi, Tugce T; Thomas, Gethin P GP; Ward, Michael M MM; Weisman, Michael H MH; Farrar, Claire C; Bradbury, Linda A LA; Danoy, Patrick P; Inman, Robert D RD; Maksymowych, Walter W; Gladman, Dafna D; Rahman, Proton P; , ; Morgan, Ann A; Marzo-Ortega, Helena H; Bowness, Paul P; Gaffney, Karl K; Gaston, J S Hill JS; Smith, Malcolm M; Bruges-Armas, Jacome J; Couto, Ana-Rita AR; Sorrentino, Rosa R; Paladini, Fabiana F; Ferreira, Manuel A MA; Xu, Huji H; Liu, Yu Y; Jiang, Lei L; Lopez-Larrea, Carlos C; Díaz-Peña, Roberto R; López-Vázquez, Antonio A; Zayats, Tetyana T; Band, Gavin G; Bellenguez, Céline C; Blackburn, Hannah H; Blackwell, Jenefer M JM; Bramon, Elvira E; Bumpstead, Suzannah J SJ; Casas, Juan P JP; Corvin, Aiden A; Craddock, Nicholas N; Deloukas, Panos P; Dronov, Serge S; Duncanson, Audrey A; Edkins, Sarah S; Freeman, Colin C; Gillman, Matthew M; Gray, Emma E; Gwilliam, Rhian R; Hammond, Naomi N; Hunt, Sarah E SE; Jankowski, Janusz J; Jayakumar, Alagurevathi A; Langford, Cordelia C; Liddle, Jennifer J; Markus, Hugh S HS; Mathew, Christopher G CG; McCann, Owen T OT; McCarthy, Mark I MI; Palmer, Colin N A CN; Peltonen, Leena L; Plomin, Robert R; Potter, Simon C SC; Rautanen, Anna A; Ravindrarajah, Radhi R; Ricketts, Michelle M; Samani, Nilesh N; Sawcer, Stephen J SJ; Strange, Amy A; Trembath, Richard C RC; Viswanathan, Ananth C AC; Waller, Matthew M; Weston, Paul P; Whittaker, Pamela P; Widaa, Sara S; Wood, Nicholas W NW; McVean, Gilean G; Reveille, John D JD; Wordsworth, B Paul BP; Brown, Matthew A MA; Donnelly, Peter P; , ; ,
Publication Date: 2011-07-10

Variant appearance in text: rs4389526
PubMed Link: 21743469
Variant Present in the following documents:
  • Main text
View BVdb publication page