STAT3 c.-24+12753T>C

Variant ID: 17-40527544-A-G

NM_139276.3(STAT3):c.-24+12753T>C

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: rs12942547
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Interfering With Inflammation: Heterogeneous Effects of Interferons in Graft-Versus-Host Disease of the Gastrointestinal Tract and Inflammatory Bowel Disease.

Frontiers In Immunology
Haring, Eileen E; Zeiser, Robert R; Apostolova, Petya P
Publication Date: 2021

Variant appearance in text: rs12942547
PubMed Link: 34249014
Variant Present in the following documents:
  • Main text
  • fimmu-12-705342.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs12942547
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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STAT3 and STAT5 Signaling Thresholds Determine Distinct Regulation for Innate Receptor-Induced Inflammatory Cytokines, and STAT3/STAT5 Disease Variants Modulate These Outcomes.

Journal Of Immunology (Baltimore, Md. : 1950)
Hedl, Matija M; Sun, Rui R; Huang, Chen C; Abraham, Clara C
Publication Date: 2019-12-15

Variant appearance in text: rs12942547
PubMed Link: 31732533
Variant Present in the following documents:
  • Main text
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Genome-wide association studies in Crohn's disease: Past, present and future.

Clinical & Translational Immunology
Verstockt, Bram B; Smith, Kenneth Gc KG; Lee, James C JC
Publication Date: 2018

Variant appearance in text: rs12942547
PubMed Link: 29484179
Variant Present in the following documents:
  • Main text
  • CTI2-7-e1001.pdf
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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs12942547
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Combination treatment with 6-mercaptopurine and allopurinol in HepG2 and HEK293 cells - Effects on gene expression levels and thiopurine metabolism.

Plos One
Haglund, Sofie S; Vikingsson, Svante S; Almer, Sven S; Söderman, Jan J
Publication Date: 2017

Variant appearance in text: rs12942547
PubMed Link: 28278299
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and Characterization of a Novel Association between Dietary Potassium and Risk of Crohn's Disease and Ulcerative Colitis.

Frontiers In Immunology
Khalili, Hamed H; Malik, Sakshi S; Ananthakrishnan, Ashwin N AN; Garber, John J JJ; Higuchi, Leslie M LM; Joshi, Amit A; Peloquin, Joanna J; Richter, James M JM; Stewart, Kathleen O KO; Curhan, Gary C GC; Awasthi, Amit A; Yajnik, Vijay V; Chan, Andrew T AT
Publication Date: 2016

Variant appearance in text: rs12942547
PubMed Link: 28003811
Variant Present in the following documents:
  • Main text
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Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics
Zhang, Ge G; Muglia, Louis J LJ; Chakraborty, Ranajit R; Akey, Joshua M JM; Williams, Scott M SM
Publication Date: 2013-12-01

Variant appearance in text: rs12942547
PubMed Link: 27896059
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology
Ye, Byong Duk BD; McGovern, Dermot P B DP
Publication Date: 2016-10

Variant appearance in text: rs12942547
PubMed Link: 27156530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.

Gastroenterology
Huang, Chengrui C; Haritunians, Talin T; Okou, David T DT; Cutler, David J DJ; Zwick, Michael E ME; Taylor, Kent D KD; Datta, Lisa W LW; Maranville, Joseph C JC; Liu, Zhenqiu Z; Ellis, Shannon S; Chopra, Pankaj P; Alexander, Jonathan S JS; Baldassano, Robert N RN; Cross, Raymond K RK; Dassopoulos, Themistocles T; Dhere, Tanvi A TA; Duerr, Richard H RH; Hanson, John S JS; Hou, Jason K JK; Hussain, Sunny Z SZ; Isaacs, Kim L KL; Kachelries, Kelly E KE; Kader, Howard H; Kappelman, Michael D MD; Katz, Jeffrey J; Kellermayer, Richard R; Kirschner, Barbara S BS; Kuemmerle, John F JF; Kumar, Archana A; Kwon, John H JH; Lazarev, Mark M; Mannon, Peter P; Moulton, Dedrick E DE; Osuntokun, Bankole O BO; Patel, Ashish A; Rioux, John D JD; Rotter, Jerome I JI; Saeed, Shehzad S; Scherl, Ellen J EJ; Silverberg, Mark S MS; Silverman, Ann A; Targan, Stephan R SR; Valentine, John F JF; Wang, Ming-Hsi MH; Simpson, Claire L CL; Bridges, S Louis SL; Kimberly, Robert P RP; Rich, Stephen S SS; Cho, Judy H JH; Rienzo, Anna Di AD; Kao, Linda W H LWH; McGovern, Dermot P B DPB; Brant, Steven R SR; Kugathasan, Subra S
Publication Date: 2015-11

Variant appearance in text: rs12942547
PubMed Link: 26278503
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Inflammatory Bowel Diseases.

Gastroenterology
McGovern, Dermot P B DP; Kugathasan, Subra S; Cho, Judy H JH
Publication Date: 2015-10

Variant appearance in text: rs12942547
PubMed Link: 26255561
Variant Present in the following documents:
  • Main text
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An analysis of genetic factors related to risk of inflammatory bowel disease and colon cancer.

Cancer Epidemiology
Ryan, Bríd M BM; Wolff, Roger K RK; Valeri, Nicola N; Khan, Mohammed M; Robinson, Dillon D; Paone, Alessio A; Bowman, Elise D ED; Lundgreen, Abbie A; Caan, Bette B; Potter, John J; Brown, Derek D; Croce, Carlo C; Slattery, Martha L ML; Harris, Curtis C CC
Publication Date: 2014-10

Variant appearance in text: rs12942547
PubMed Link: 25132422
Variant Present in the following documents:
  • Main text
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SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.

Journal Of Crohn'S & Colitis
Fowler, Sharyle A SA; Ananthakrishnan, Ashwin N AN; Gardet, Agnes A; Stevens, Christine R CR; Korzenik, Joshua R JR; Sands, Bruce E BE; Daly, Mark J MJ; Xavier, Ramnik J RJ; Yajnik, Vijay V
Publication Date: 2014-08

Variant appearance in text: rs12942547
PubMed Link: 24461721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Nature
Jostins, Luke L; Ripke, Stephan S; Weersma, Rinse K RK; Duerr, Richard H RH; McGovern, Dermot P DP; Hui, Ken Y KY; Lee, James C JC; Schumm, L Philip LP; Sharma, Yashoda Y; Anderson, Carl A CA; Essers, Jonah J; Mitrovic, Mitja M; Ning, Kaida K; Cleynen, Isabelle I; Theatre, Emilie E; Spain, Sarah L SL; Raychaudhuri, Soumya S; Goyette, Philippe P; Wei, Zhi Z; Abraham, Clara C; Achkar, Jean-Paul JP; Ahmad, Tariq T; Amininejad, Leila L; Ananthakrishnan, Ashwin N AN; Andersen, Vibeke V; Andrews, Jane M JM; Baidoo, Leonard L; Balschun, Tobias T; Bampton, Peter A PA; Bitton, Alain A; Boucher, Gabrielle G; Brand, Stephan S; Büning, Carsten C; Cohain, Ariella A; Cichon, Sven S; D'Amato, Mauro M; De Jong, Dirk D; Devaney, Kathy L KL; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Ferguson, Lynnette R LR; Franchimont, Denis D; Fransen, Karin K; Gearry, Richard R; Georges, Michel M; Gieger, Christian C; Glas, Jürgen J; Haritunians, Talin T; Hart, Ailsa A; Hawkey, Chris C; Hedl, Matija M; Hu, Xinli X; Karlsen, Tom H TH; Kupcinskas, Limas L; Kugathasan, Subra S; Latiano, Anna A; Laukens, Debby D; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mahy, Gillian G; Mansfield, John J; Morgan, Angharad R AR; Mowat, Craig C; Newman, William W; Palmieri, Orazio O; Ponsioen, Cyriel Y CY; Potocnik, Uros U; Prescott, Natalie J NJ; Regueiro, Miguel M; Rotter, Jerome I JI; Russell, Richard K RK; Sanderson, Jeremy D JD; Sans, Miquel M; Satsangi, Jack J; Schreiber, Stefan S; Simms, Lisa A LA; Sventoraityte, Jurgita J; Targan, Stephan R SR; Taylor, Kent D KD; Tremelling, Mark M; Verspaget, Hein W HW; De Vos, Martine M; Wijmenga, Cisca C; Wilson, David C DC; Winkelmann, Juliane J; Xavier, Ramnik J RJ; Zeissig, Sebastian S; Zhang, Bin B; Zhang, Clarence K CK; Zhao, Hongyu H; , ; Silverberg, Mark S MS; Annese, Vito V; Hakonarson, Hakon H; Brant, Steven R SR; Radford-Smith, Graham G; Mathew, Christopher G CG; Rioux, John D JD; Schadt, Eric E EE; Daly, Mark J MJ; Franke, Andre A; Parkes, Miles M; Vermeire, Severine S; Barrett, Jeffrey C JC; Cho, Judy H JH
Publication Date: 2012-11-01

Variant appearance in text: rs12942547
PubMed Link: 23128233
Variant Present in the following documents:
  • Main text
  • NIHMS407586-supplement-1.pdf
  • NIHMS407586-supplement-4.xlsx, sheet 3
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