APEH c.1604-52G>T

Variant ID: 3-49719729-G-T

NM_001640.3(APEH):c.1604-52G>T

This variant was identified in 10 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: rs9822268
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs9822268
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



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: rs9822268
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk.

Cancer Research
Yuan, Fangcheng F; Hung, Rayjean J RJ; Walsh, Naomi N; Zhang, Han H; Platz, Elizabeth A EA; Wheeler, William W; Song, Lei L; Arslan, Alan A AA; Beane Freeman, Laura E LE; Bracci, Paige P; Canzian, Federico F; Du, Mengmeng M; Gallinger, Steven S; Giles, Graham G GG; Goodman, Phyllis J PJ; Kooperberg, Charles C; Le Marchand, Loic L; Neale, Rachel E RE; Rosendahl, Jonas J; Scelo, Ghislaine G; Shu, Xiao-Ou XO; Visvanathan, Kala K; White, Emily E; Zheng, Wei W; Albanes, Demetrius D; Amiano, Pilar P; Andreotti, Gabriella G; Babic, Ana A; Bamlet, William R WR; Berndt, Sonja I SI; Brennan, Paul P; Bueno-de-Mesquita, Bas B; Buring, Julie E JE; Campbell, Peter T PT; Chanock, Stephen J SJ; Fuchs, Charles S CS; Gaziano, J Michael JM; Goggins, Michael G MG; Hackert, Thilo T; Hartge, Patricia P; Hassan, Manal M MM; Holly, Elizabeth A EA; Hoover, Robert N RN; Katzke, Verena V; Kirsten, Holger H; Kurtz, Robert C RC; Lee, I-Min IM; Malats, Nuria N; Milne, Roger L RL; Murphy, Neil N; Ng, Kimmie K; Oberg, Ann L AL; Porta, Miquel M; Rabe, Kari G KG; Real, Francisco X FX; Rothman, Nathaniel N; Sesso, Howard D HD; Silverman, Debra T DT; Thompson, Ian M IM; Wactawski-Wende, Jean J; Wang, Xiaoliang X; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Yu, Herbert H; Zeleniuch-Jacquotte, Anne A; Shi, Jianxin J; Duell, Eric J EJ; Amundadottir, Laufey T LT; Li, Donghui D; Petersen, Gloria M GM; Wolpin, Brian M BM; Risch, Harvey A HA; Yu, Kai K; Klein, Alison P AP; Stolzenberg-Solomon, Rachael R
Publication Date: 2020-09-15

Variant appearance in text: rs9822268
PubMed Link: 32641412
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations of inflammatory bowel disease in a South Asian population.

World Journal Of Clinical Cases
Niriella, Madunil Anuk MA; Liyanage, Isurujith Kongala IK; Kodisinghe, Senerath Kuleesha SK; Silva, Arjuna Priyadarsin De AP; Rajapakshe, Nimna N; Nanayakkara, Sunali D SD; Luke, Dunya D; Silva, Thilakshi T; Nawarathne, Metthananda M; Peiris, Ranjith K RK; Kalubovila, Udaya P UP; Kumarasena, Sujeewa R SR; Dissanayake, Vajira Harshadeva Weerabaddana VHW; Jayasekara, Rohan W RW; de Silva, Hithanadura Janaka HJ
Publication Date: 2018-12-06

Variant appearance in text: rs9822268
PubMed Link: 30568945
Variant Present in the following documents:
  • Main text
  • WJCC-6-908.pdf
View BVdb publication page



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: rs9822268
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
Di Narzo, Antonio F AF; Peters, Lauren A LA; Argmann, Carmen C; Stojmirovic, Aleksandar A; Perrigoue, Jacqueline J; Li, Katherine K; Telesco, Shannon S; Kidd, Brian B; Walker, Jennifer J; Dudley, Joel J; Cho, Judy J; Schadt, Eric E EE; Kasarskis, Andrew A; Curran, Mark M; Dobrin, Radu R; Hao, Ke K
Publication Date: 2016-06-23

Variant appearance in text: rs9822268
PubMed Link: 27336838
Variant Present in the following documents:
  • Main text
  • ctg201634a.pdf
View BVdb publication page



Transcriptomic landscape of lncRNAs in inflammatory bowel disease.

Genome Medicine
Mirza, Aashiq H AH; Berthelsen, Claus Hb CH; Seemann, Stefan E SE; Pan, Xiaoyong X; Frederiksen, Klaus S KS; Vilien, Mogens M; Gorodkin, Jan J; Pociot, Flemming F
Publication Date: 2015

Variant appearance in text: rs9822268
PubMed Link: 25991924
Variant Present in the following documents:
  • Main text
  • 13073_2015_Article_162.pdf
View BVdb publication page



Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Nature Genetics
Anderson, Carl A CA; Boucher, Gabrielle G; Lees, Charlie W CW; Franke, Andre A; D'Amato, Mauro M; Taylor, Kent D KD; Lee, James C JC; Goyette, Philippe P; Imielinski, Marcin M; Latiano, Anna A; Lagacé, Caroline C; Scott, Regan R; Amininejad, Leila L; Bumpstead, Suzannah S; Baidoo, Leonard L; Baldassano, Robert N RN; Barclay, Murray M; Bayless, Theodore M TM; Brand, Stephan S; Büning, Carsten C; Colombel, Jean-Frédéric JF; Denson, Lee A LA; De Vos, Martine M; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Fehrmann, Rudolf S N RS; Floyd, James A B JA; Florin, Timothy T; Franchimont, Denis D; Franke, Lude L; Georges, Michel M; Glas, Jürgen J; Glazer, Nicole L NL; Guthery, Stephen L SL; Haritunians, Talin T; Hayward, Nicholas K NK; Hugot, Jean-Pierre JP; Jobin, Gilles G; Laukens, Debby D; Lawrance, Ian I; Lémann, Marc M; Levine, Arie A; Libioulle, Cecile C; Louis, Edouard E; McGovern, Dermot P DP; Milla, Monica M; Montgomery, Grant W GW; Morley, Katherine I KI; Mowat, Craig C; Ng, Aylwin A; Newman, William W; Ophoff, Roel A RA; Papi, Laura L; Palmieri, Orazio O; Peyrin-Biroulet, Laurent L; Panés, Julián J; Phillips, Anne A; Prescott, Natalie J NJ; Proctor, Deborah D DD; Roberts, Rebecca R; Russell, Richard R; Rutgeerts, Paul P; Sanderson, Jeremy J; Sans, Miquel M; Schumm, Philip P; Seibold, Frank F; Sharma, Yashoda Y; Simms, Lisa A LA; Seielstad, Mark M; Steinhart, A Hillary AH; Targan, Stephan R SR; van den Berg, Leonard H LH; Vatn, Morten M; Verspaget, Hein H; Walters, Thomas T; Wijmenga, Cisca C; Wilson, David C DC; Westra, Harm-Jan HJ; Xavier, Ramnik J RJ; Zhao, Zhen Z ZZ; Ponsioen, Cyriel Y CY; Andersen, Vibeke V; Torkvist, Leif L; Gazouli, Maria M; Anagnou, Nicholas P NP; Karlsen, Tom H TH; Kupcinskas, Limas L; Sventoraityte, Jurgita J; Mansfield, John C JC; Kugathasan, Subra S; Silverberg, Mark S MS; Halfvarson, Jonas J; Rotter, Jerome I JI; Mathew, Christopher G CG; Griffiths, Anne M AM; Gearry, Richard R; Ahmad, Tariq T; Brant, Steven R SR; Chamaillard, Mathias M; Satsangi, Jack J; Cho, Judy H JH; Schreiber, Stefan S; Daly, Mark J MJ; Barrett, Jeffrey C JC; Parkes, Miles M; Annese, Vito V; Hakonarson, Hakon H; Radford-Smith, Graham G; Duerr, Richard H RH; Vermeire, Séverine S; Weersma, Rinse K RK; Rioux, John D JD
Publication Date: 2011-03

Variant appearance in text: rs9822268
PubMed Link: 21297633
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Raelson, John V JV; Little, Randall D RD; Ruether, Andreas A; Fournier, Hélène H; Paquin, Bruno B; Van Eerdewegh, Paul P; Bradley, W E C WE; Croteau, Pascal P; Nguyen-Huu, Quynh Q; Segal, Jonathan J; Debrus, Sophie S; Allard, René R; Rosenstiel, Philip P; Franke, Andre A; Jacobs, Gunnar G; Nikolaus, Susanna S; Vidal, Jean-Michel JM; Szego, Peter P; Laplante, Nathalie N; Clark, Hilary F HF; Paulussen, René J RJ; Hooper, John W JW; Keith, Tim P TP; Belouchi, Abdelmajid A; Schreiber, Stefan S
Publication Date: 2007-09-11

Variant appearance in text: rs9822268
PubMed Link: 17804789
Variant Present in the following documents:
  • Main text
View BVdb publication page