ACP1 c.231+53C>T

Variant ID: 2-272203-C-T

NM_004300.3(ACP1):c.231+53C>T

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs11553746
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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: rs11553746
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: ACP1: 231+53C>T; rs11553746
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Elucidation of Cellular Contributions to Heparin-Induced Thrombocytopenia Using Omic Approaches.

Frontiers In Pharmacology
Giles, Jason B JB; Miller, Elise C EC; Steiner, Heidi E HE; Karnes, Jason H JH
Publication Date: 2021

Variant appearance in text: rs11553746
PubMed Link: 35126147
Variant Present in the following documents:
  • Main text
  • fphar-12-812830.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: rs11553746
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: rs11553746
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs11553746
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: rs11553746
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: rs11553746
PubMed Link: 33623049
Variant Present in the following documents:
  • 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs11553746
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs11553746
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs11553746
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page



Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs11553746
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
View BVdb publication page



Genes identified through genome-wide association studies of osteonecrosis in childhood acute lymphoblastic leukemia patients.

Pharmacogenomics
Gagné, Vincent V; Aubry-Morin, Anne A; Plesa, Maria M; Abaji, Rachid R; Petrykey, Kateryna K; St-Onge, Pascal P; Beaulieu, Patrick P; Laverdière, Caroline C; Alos, Nathalie N; Leclerc, Jean-Marie JM; Sallan, Stephen E SE; Neuberg, Donna D; Kutok, Jeffery L JL; Silverman, Lewis B LB; Sinnett, Daniel D; Krajinovic, Maja M
Publication Date: 2019-11

Variant appearance in text: rs11553746
PubMed Link: 31686588
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs11553746
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs11553746
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs11553746
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs11553746
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs11553746
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs11553746
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.

Genes
Barbitoff, Yury A YA; Serebryakova, Elena A EA; Nasykhova, Yulia A YA; Predeus, Alexander V AV; Polev, Dmitrii E DE; Shuvalova, Anna R AR; Vasiliev, Evgenii V EV; Urazov, Stanislav P SP; Sarana, Andrey M AM; Scherbak, Sergey G SG; Gladyshev, Dmitrii V DV; Pokrovskaya, Maria S MS; Sivakova, Oksana V OV; Meshkov, Aleksey N AN; Drapkina, Oxana M OM; Glotov, Oleg S OS; Glotov, Andrey S AS
Publication Date: 2018-08-17

Variant appearance in text: rs11553746
PubMed Link: 30126146
Variant Present in the following documents:
  • Main text
  • genes-09-00415.pdf
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: rs11553746
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs11553746
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Exome-wide association study of plasma lipids in >300,000 individuals.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Yu, Haojie H; Butterworth, Adam S AS; Wang, Xiao X; Mahajan, Anubha A; Saleheen, Danish D; Emdin, Connor C; Alam, Dewan D; Alves, Alexessander Couto AC; Amouyel, Philippe P; Di Angelantonio, Emanuele E; Arveiler, Dominique D; Assimes, Themistocles L TL; Auer, Paul L PL; Baber, Usman U; Ballantyne, Christie M CM; Bang, Lia E LE; Benn, Marianne M; Bis, Joshua C JC; Boehnke, Michael M; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brandslund, Ivan I; Brown, Morris M; Busonero, Fabio F; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Y Eugene YE; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Connell, John M JM; Cucca, Francesco F; Cupples, L Adrienne LA; Damrauer, Scott M SM; Davies, Gail G; Deary, Ian J IJ; Dedoussis, George G; Denny, Joshua C JC; Dominiczak, Anna A; Dubé, Marie-Pierre MP; Ebeling, Tapani T; Eiriksdottir, Gudny G; Esko, Tõnu T; Farmaki, Aliki-Eleni AE; Feitosa, Mary F MF; Ferrario, Marco M; Ferrieres, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frayling, Timothy M TM; Frikke-Schmidt, Ruth R; Fritsche, Lars G LG; Frossard, Philippe P; Fuster, Valentin V; Ganesh, Santhi K SK; Gao, Wei W; Garcia, Melissa E ME; Gieger, Christian C; Giulianini, Franco F; Goodarzi, Mark O MO; Grallert, Harald H; Grarup, Niels N; Groop, Leif L; Grove, Megan L ML; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hirschhorn, Joel N JN; Holmen, Oddgeir L OL; Huffman, Jennifer J; Huo, Yong Y; Hveem, Kristian K; Jabeen, Sehrish S; Jackson, Anne U AU; Jakobsdottir, Johanna J; Jarvelin, Marjo-Riitta MR; Jensen, Gorm B GB; Jørgensen, Marit E ME; Jukema, J Wouter JW; Justesen, Johanne M JM; Kamstrup, Pia R PR; Kanoni, Stavroula S; Karpe, Fredrik F; Kee, Frank F; Khera, Amit V AV; Klarin, Derek D; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Kooperberg, Charles C; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo T; Langenberg, Claudia C; Langsted, Anne A; Launer, Lenore J LJ; Lauritzen, Torsten T; Liewald, David C M DCM; Lin, Li An LA; Linneberg, Allan A; Loos, Ruth J F RJF; Lu, Yingchang Y; Lu, Xiangfeng X; Mägi, Reedik R; Malarstig, Anders A; Manichaikul, Ani A; Manning, Alisa K AK; Mäntyselkä, Pekka P; Marouli, Eirini E; Masca, Nicholas G D NGD; Maschio, Andrea A; Meigs, James B JB; Melander, Olle O; Metspalu, Andres A; Morris, Andrew P AP; Morrison, Alanna C AC; Mulas, Antonella A; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Neville, Matt J MJ; Nielsen, Jonas B JB; Nielsen, Sune F SF; Nordestgaard, Børge G BG; Ordovas, Jose M JM; Mehran, Roxana R; O'Donnell, Christoper J CJ; Orho-Melander, Marju M; Molony, Cliona M CM; Muntendam, Pieter P; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Pasko, Dorota D; Patel, Aniruddh P AP; Pedersen, Oluf O; Perola, Markus M; Peters, Annette A; Pisinger, Charlotta C; Pistis, Giorgio G; Polasek, Ozren O; Poulter, Neil N; Psaty, Bruce M BM; Rader, Daniel J DJ; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Rich, Stephen S SS; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil R NR; Roden, Dan M DM; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sanna, Serena S; Sattar, Naveed N; Schmidt, Ellen M EM; Scott, Robert A RA; Sever, Peter P; Sevilla, Raquel S RS; Shaffer, Christian M CM; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert V AV; Smith, Blair H BH; Somayajula, Sangeetha S; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stirrups, Kathleen E KE; Stitziel, Nathan N; Strauch, Konstantin K; Stringham, Heather M HM; Surendran, Praveen P; Tada, Hayato H; Tall, Alan R AR; Tang, Hua H; Tardif, Jean-Claude JC; Taylor, Kent D KD; Trompet, Stella S; Tsao, Philip S PS; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; van Zuydam, Natalie R NR; Varbo, Anette A; Varga, Tibor V TV; Virtamo, Jarmo J; Waldenberger, Melanie M; Wang, Nan N; Wareham, Nick J NJ; Warren, Helen R HR; Weeke, Peter E PE; Weinstock, Joshua J; Wessel, Jennifer J; Wilson, James G JG; Wilson, Peter W F PWF; Xu, Ming M; Yaghootkar, Hanieh H; Young, Robin R; Zeggini, Eleftheria E; Zhang, He H; Zheng, Neil S NS; Zhang, Weihua W; Zhang, Yan Y; Zhou, Wei W; Zhou, Yanhua Y; Zoledziewska, Magdalena M; , ; , ; , ; , ; , ; Howson, Joanna M M JMM; Danesh, John J; McCarthy, Mark I MI; Cowan, Chad A CA; Abecasis, Goncalo G; Deloukas, Panos P; Musunuru, Kiran K; Willer, Cristen J CJ; Kathiresan, Sekar S
Publication Date: 2017-12

Variant appearance in text: rs11553746
PubMed Link: 29083408
Variant Present in the following documents:
  • Main text
  • nihms909134.pdf
View BVdb publication page



Common coding variant in SERPINA1 increases the risk for large artery stroke.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Malik, Rainer R; Dau, Therese T; Gonik, Maria M; Sivakumar, Anirudh A; Deredge, Daniel J DJ; Edeleva, Evgeniia V EV; Götzfried, Jessica J; van der Laan, Sander W SW; Pasterkamp, Gerard G; Beaufort, Nathalie N; Seixas, Susana S; Bevan, Steve S; Lincz, Lisa F LF; Holliday, Elizabeth G EG; Burgess, Annette I AI; Rannikmäe, Kristiina K; Minnerup, Jens J; Kriebel, Jennifer J; Waldenberger, Melanie M; Müller-Nurasyid, Martina M; Lichtner, Peter P; Saleheen, Danish D; , ; Rothwell, Peter M PM; Levi, Christopher C; Attia, John J; Sudlow, Cathie L M CL; Braun, Dieter D; Markus, Hugh S HS; Wintrode, Patrick L PL; Berger, Klaus K; Jenne, Dieter E DE; Dichgans, Martin M
Publication Date: 2017-04-04

Variant appearance in text: rs11553746
PubMed Link: 28265093
Variant Present in the following documents:
  • Main text
View BVdb publication page



SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Journal Of The American Society Of Nephrology : Jasn
Li, Man M; Li, Yong Y; Weeks, Olivia O; Mijatovic, Vladan V; Teumer, Alexander A; Huffman, Jennifer E JE; Tromp, Gerard G; Fuchsberger, Christian C; Gorski, Mathias M; Lyytikäinen, Leo-Pekka LP; Nutile, Teresa T; Sedaghat, Sanaz S; Sorice, Rossella R; Tin, Adrienne A; Yang, Qiong Q; Ahluwalia, Tarunveer S TS; Arking, Dan E DE; Bihlmeyer, Nathan A NA; Böger, Carsten A CA; Carroll, Robert J RJ; Chasman, Daniel I DI; Cornelis, Marilyn C MC; Dehghan, Abbas A; Faul, Jessica D JD; Feitosa, Mary F MF; Gambaro, Giovanni G; Gasparini, Paolo P; Giulianini, Franco F; Heid, Iris I; Huang, Jinyan J; Imboden, Medea M; Jackson, Anne U AU; Jeff, Janina J; Jhun, Min A MA; Katz, Ronit R; Kifley, Annette A; Kilpeläinen, Tuomas O TO; Kumar, Ashish A; Laakso, Markku M; Li-Gao, Ruifang R; Lohman, Kurt K; Lu, Yingchang Y; Mägi, Reedik R; Malerba, Giovanni G; Mihailov, Evelin E; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Robino, Antonietta A; Ruderfer, Douglas D; Salvi, Erika E; Schick, Ursula M UM; Schulz, Christina-Alexandra CA; Smith, Albert V AV; Smith, Jennifer A JA; Traglia, Michela M; Yerges-Armstrong, Laura M LM; Zhao, Wei W; Goodarzi, Mark O MO; Kraja, Aldi T AT; Liu, Chunyu C; Wessel, Jennifer J; , ; , ; Boerwinkle, Eric E; Borecki, Ingrid B IB; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Braga, Daniele D; Brandslund, Ivan I; Brody, Jennifer A JA; Campbell, Archie A; Carey, David J DJ; Christensen, Cramer C; Coresh, Josef J; Crook, Errol E; Curhan, Gary C GC; Cusi, Daniele D; de Boer, Ian H IH; de Vries, Aiko P J AP; Denny, Joshua C JC; Devuyst, Olivier O; Dreisbach, Albert W AW; Endlich, Karlhans K; Esko, Tõnu T; Franco, Oscar H OH; Fulop, Tibor T; Gerhard, Glenn S GS; Glümer, Charlotte C; Gottesman, Omri O; Grarup, Niels N; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hocking, Lynne L; Hofman, Albert A; Hu, Frank B FB; Husemoen, Lise Lotte N LL; Jackson, Rebecca D RD; Jørgensen, Torben T; Jørgensen, Marit E ME; Kähönen, Mika M; Kardia, Sharon L R SL; König, Wolfgang W; Kooperberg, Charles C; Kriebel, Jennifer J; Launer, Lenore J LJ; Lauritzen, Torsten T; Lehtimäki, Terho T; Levy, Daniel D; Linksted, Pamela P; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; Lupo, Antonio A; Meisinger, Christine C; Melander, Olle O; Metspalu, Andres A; Mitchell, Paul P; Nauck, Matthias M; Nürnberg, Peter P; Orho-Melander, Marju M; Parsa, Afshin A; Pedersen, Oluf O; Peters, Annette A; Peters, Ulrike U; Polasek, Ozren O; Porteous, David D; Probst-Hensch, Nicole M NM; Psaty, Bruce M BM; Qi, Lu L; Raitakari, Olli T OT; Reiner, Alex P AP; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Rossouw, Jacques E JE; Schmidt, Frank F; Siscovick, David D; Soranzo, Nicole N; Strauch, Konstantin K; Toniolo, Daniela D; Turner, Stephen T ST; Uitterlinden, André G AG; Ulivi, Sheila S; Velayutham, Dinesh D; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Wang, Jie Jin JJ; Weir, David R DR; Witte, Daniel D; Kuivaniemi, Helena H; Fox, Caroline S CS; Franceschini, Nora N; Goessling, Wolfram W; Köttgen, Anna A; Chu, Audrey Y AY
Publication Date: 2017-03

Variant appearance in text: rs11553746
PubMed Link: 27920155
Variant Present in the following documents:
  • Main text
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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: rs11553746
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
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Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Nature Communications
Fan, Qiao Q; Verhoeven, Virginie J M VJ; Wojciechowski, Robert R; Barathi, Veluchamy A VA; Hysi, Pirro G PG; Guggenheim, Jeremy A JA; Höhn, René R; Vitart, Veronique V; Khawaja, Anthony P AP; Yamashiro, Kenji K; Hosseini, S Mohsen SM; Lehtimäki, Terho T; Lu, Yi Y; Haller, Toomas T; Xie, Jing J; Delcourt, Cécile C; Pirastu, Mario M; Wedenoja, Juho J; Gharahkhani, Puya P; Venturini, Cristina C; Miyake, Masahiro M; Hewitt, Alex W AW; Guo, Xiaobo X; Mazur, Johanna J; Huffman, Jenifer E JE; Williams, Katie M KM; Polasek, Ozren O; Campbell, Harry H; Rudan, Igor I; Vatavuk, Zoran Z; Wilson, James F JF; Joshi, Peter K PK; McMahon, George G; St Pourcain, Beate B; Evans, David M DM; Simpson, Claire L CL; Schwantes-An, Tae-Hwi TH; Igo, Robert P RP; Mirshahi, Alireza A; Cougnard-Gregoire, Audrey A; Bellenguez, Céline C; Blettner, Maria M; Raitakari, Olli O; Kähönen, Mika M; Seppala, Ilkka I; Zeller, Tanja T; Meitinger, Thomas T; , ; Ried, Janina S JS; Gieger, Christian C; Portas, Laura L; van Leeuwen, Elisabeth M EM; Amin, Najaf N; Uitterlinden, André G AG; Rivadeneira, Fernando F; Hofman, Albert A; Vingerling, Johannes R JR; Wang, Ya Xing YX; Wang, Xu X; Tai-Hui Boh, Eileen E; Ikram, M Kamran MK; Sabanayagam, Charumathi C; Gupta, Preeti P; Tan, Vincent V; Zhou, Lei L; Ho, Candice E H CE; Lim, Wan'e W; Beuerman, Roger W RW; Siantar, Rosalynn R; Tai, E-Shyong ES; Vithana, Eranga E; Mihailov, Evelin E; Khor, Chiea-Chuen CC; Hayward, Caroline C; Luben, Robert N RN; Foster, Paul J PJ; Klein, Barbara E K BE; Klein, Ronald R; Wong, Hoi-Suen HS; Mitchell, Paul P; Metspalu, Andres A; Aung, Tin T; Young, Terri L TL; He, Mingguang M; Pärssinen, Olavi O; van Duijn, Cornelia M CM; Jin Wang, Jie J; Williams, Cathy C; Jonas, Jost B JB; Teo, Yik-Ying YY; Mackey, David A DA; Oexle, Konrad K; Yoshimura, Nagahisa N; Paterson, Andrew D AD; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Baird, Paul N PN; Stambolian, Dwight D; Wilson, Joan E Bailey JE; Cheng, Ching-Yu CY; Hammond, Christopher J CJ; Klaver, Caroline C W CC; Saw, Seang-Mei SM; Rahi, Jugnoo S JS; Korobelnik, Jean-François JF; Kemp, John P JP; Timpson, Nicholas J NJ; Smith, George Davey GD; Craig, Jamie E JE; Burdon, Kathryn P KP; Fogarty, Rhys D RD; Iyengar, Sudha K SK; Chew, Emily E; Janmahasatian, Sarayut S; Martin, Nicholas G NG; MacGregor, Stuart S; Xu, Liang L; Schache, Maria M; Nangia, Vinay V; Panda-Jonas, Songhomitra S; Wright, Alan F AF; Fondran, Jeremy R JR; Lass, Jonathan H JH; Feng, Sheng S; Zhao, Jing Hua JH; Khaw, Kay-Tee KT; Wareham, Nick J NJ; Rantanen, Taina T; Kaprio, Jaakko J; Pang, Chi Pui CP; Chen, Li Jia LJ; Tam, Pancy O PO; Jhanji, Vishal V; Young, Alvin L AL; Döring, Angela A; Raffel, Leslie J LJ; Cotch, Mary-Frances MF; Li, Xiaohui X; Yip, Shea Ping SP; Yap, Maurice K H MK; Biino, Ginevra G; Vaccargiu, Simona S; Fossarello, Maurizio M; Fleck, Brian B; Yazar, Seyhan S; Tideman, Jan Willem L JW; Tedja, Milly M; Deangelis, Margaret M MM; Morrison, Margaux M; Farrer, Lindsay L; Zhou, Xiangtian X; Chen, Wei W; Mizuki, Nobuhisa N; Meguro, Akira A; Mäkelä, Kari Matti KM
Publication Date: 2016-03-29

Variant appearance in text: rs11553746
PubMed Link: 27020472
Variant Present in the following documents:
  • ncomms11008-s1.pdf
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs11553746
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs11553746
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs11553746
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 3
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 4
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Diabetologia
Albrechtsen, A A; Grarup, N N; Li, Y Y; Sparsø, T T; Tian, G G; Cao, H H; Jiang, T T; Kim, S Y SY; Korneliussen, T T; Li, Q Q; Nie, C C; Wu, R R; Skotte, L L; Morris, A P AP; Ladenvall, C C; Cauchi, S S; Stančáková, A A; Andersen, G G; Astrup, A A; Banasik, K K; Bennett, A J AJ; Bolund, L L; Charpentier, G G; Chen, Y Y; Dekker, J M JM; Doney, A S F AS; Dorkhan, M M; Forsen, T T; Frayling, T M TM; Groves, C J CJ; Gui, Y Y; Hallmans, G G; Hattersley, A T AT; He, K K; Hitman, G A GA; Holmkvist, J J; Huang, S S; Jiang, H H; Jin, X X; Justesen, J M JM; Kristiansen, K K; Kuusisto, J J; Lajer, M M; Lantieri, O O; Li, W W; Liang, H H; Liao, Q Q; Liu, X X; Ma, T T; Ma, X X; Manijak, M P MP; Marre, M M; Mokrosiński, J J; Morris, A D AD; Mu, B B; Nielsen, A A AA; Nijpels, G G; Nilsson, P P; Palmer, C N A CN; Rayner, N W NW; Renström, F F; Ribel-Madsen, R R; Robertson, N N; Rolandsson, O O; Rossing, P P; Schwartz, T W TW; , ; Slagboom, P E PE; Sterner, M M; , ; Tang, M M; Tarnow, L L; Tuomi, T T; van't Riet, E E; van Leeuwen, N N; Varga, T V TV; Vestmar, M A MA; Walker, M M; Wang, B B; Wang, Y Y; Wu, H H; Xi, F F; Yengo, L L; Yu, C C; Zhang, X X; Zhang, J J; Zhang, Q Q; Zhang, W W; Zheng, H H; Zhou, Y Y; Altshuler, D D; 't Hart, L M LM; Franks, P W PW; Balkau, B B; Froguel, P P; McCarthy, M I MI; Laakso, M M; Groop, L L; Christensen, C C; Brandslund, I I; Lauritzen, T T; Witte, D R DR; Linneberg, A A; Jørgensen, T T; Hansen, T T; Wang, J J; Nielsen, R R; Pedersen, O O
Publication Date: 2013-02

Variant appearance in text: rs11553746
PubMed Link: 23160641
Variant Present in the following documents:
  • 125_2012_2756_MOESM28_ESM.pdf
  • 125_2012_2756_MOESM26_ESM.pdf
View BVdb publication page



Fine-scale variation and genetic determinants of alternative splicing across individuals.

Plos Genetics
Coulombe-Huntington, Jasmin J; Lam, Kevin C L KC; Dias, Christel C; Majewski, Jacek J
Publication Date: 2009-12

Variant appearance in text: rs11553746
PubMed Link: 20011102
Variant Present in the following documents:
  • Main text
  • pgen.1000766.pdf
View BVdb publication page