TYK2 c.1669+7T>C

Variant ID: 19-10472933-A-G

NM_003331.4(TYK2):c.1669+7T>C

This variant was identified in 64 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: rs280519
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



TYK2 single-nucleotide variants associated with the severity of COVID-19 disease.

Archives Of Virology
Zabihi Rizi, Fateme F; Ghorbani, Atousa A; Zahtab, Parnia P; Darbaghshahi, Niloufar Naderi NN; Ataee, Nioosha N; Pourhamzeh, Pardis P; Hamzei, Behnaz B; Dolatabadi, Nasrin Fatahi NF; Zamani, Atefeh A; Hooshmand, Masoud M
Publication Date: 2023-03-23

Variant appearance in text: rs280519
PubMed Link: 36959416
Variant Present in the following documents:
  • Main text
  • 705_2023_Article_5729.pdf
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: TYK2: 1669+7T>C
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Genetic association between the PTPN22, IRF5 and TYK2 gene variants and susceptibility to juvenile idiopathic arthritis.

Experimental And Therapeutic Medicine
Qian, Yufeng Y; Chen, Bingqian B; Wang, Zhengfei Z; Peng, Yuqin Y
Publication Date: 2022-12

Variant appearance in text: rs280519
PubMed Link: 36605568
Variant Present in the following documents:
  • Main text
  • etm-24-06-11692.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs280519
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs280519
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.

International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Publication Date: 2022-01

Variant appearance in text: rs280519
PubMed Link: 34791504
Variant Present in the following documents:
  • Main text
  • ijmm-49-01-05063.pdf
View BVdb publication page



From Science to Success? Targeting Tyrosine Kinase 2 in Spondyloarthritis and Related Chronic Inflammatory Diseases.

Frontiers In Genetics
Hromadová, Dominika D; Elewaut, Dirk D; Inman, Robert D RD; Strobl, Birgit B; Gracey, Eric E
Publication Date: 2021

Variant appearance in text: rs280519
PubMed Link: 34290741
Variant Present in the following documents:
  • Main text
  • fgene-12-685280.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: TYK2: 1669+7T>C; rs280519
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Association of TYK2 polymorphisms with autoimmune diseases: A comprehensive and updated systematic review with meta-analysis.

Genetics And Molecular Biology
Pellenz, Felipe Mateus FM; Dieter, Cristine C; Lemos, Natália Emerim NE; Bauer, Andrea Carla AC; Souza, Bianca Marmontel de BM; Crispim, Daisy D
Publication Date: 2021

Variant appearance in text: rs280519
PubMed Link: 33949620
Variant Present in the following documents:
  • Main text
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: rs280519
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Polymorphisms in IRF5 and TYK2 Genes Are Associated with Rheumatoid Arthritis in a Chinese Han Population.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Peng, Yuqin Y; Chen, Bingqian B; Sheng, Xiaowen X; Qian, Yufeng Y
Publication Date: 2021-02-15

Variant appearance in text: rs280519
PubMed Link: 33583939
Variant Present in the following documents:
  • Main text
  • medscimonit-27-e928455.pdf
View BVdb publication page



Apremilast Pharmacogenomics in Russian Patients with Moderate-to-Severe and Severe Psoriasis.

Journal Of Personalized Medicine
Verbenko, Dmitry A DA; Karamova, Arfenya E AE; Artamonova, Olga G OG; Deryabin, Dmitry G DG; Rakitko, Alexander A; Chernitsov, Alexandr A; Krasnenko, Anna A; Elmuratov, Artem A; Solomka, Victoria S VS; Kubanov, Alexey A AA
Publication Date: 2020-12-29

Variant appearance in text: rs280519
PubMed Link: 33383665
Variant Present in the following documents:
  • Main text
  • jpm-11-00020.pdf
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: rs280519
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: rs280519
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: TYK2: 1669+7T>C; rs280519
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs280519
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Paradoxical psoriasis induced by TNF-α blockade shows immunological features typical of the early phase of psoriasis development.

The Journal Of Pathology. Clinical Research
Fania, Luca L; Morelli, Martina M; Scarponi, Claudia C; Mercurio, Laura L; Scopelliti, Fernanda F; Cattani, Caterina C; Scaglione, Giovanni Luca GL; Tonanzi, Tiziano T; Pilla, Maria Antonietta MA; Pagnanelli, Gianluca G; Mazzanti, Cinzia C; Girolomoni, Giampiero G; Cavani, Andrea A; Madonna, Stefania S; Albanesi, Cristina C
Publication Date: 2020-01

Variant appearance in text: rs280519
PubMed Link: 31577850
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Insights into Immunotherapy Strategies for Treating Autoimmune Diabetes.

International Journal Of Molecular Sciences
Cabello-Olmo, Miriam M; Araña, Miriam M; Radichev, Ilian I; Smith, Paul P; Huarte, Eduardo E; Barajas, Miguel M
Publication Date: 2019-09-26

Variant appearance in text: rs280519
PubMed Link: 31561568
Variant Present in the following documents:
  • Main text
  • ijms-20-04789.pdf
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: TYK2: 1669+7T>C; rs280519
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs280519
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_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: TYK2: 1669+7T>C; rs280519
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: TYK2: 1669+7T>C; rs280519
PubMed Link: 29449315
Variant Present in the following documents:
  • supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1
View BVdb publication page



Liver fibrosis: a compilation on the biomarkers status and their significance during disease progression.

Future Science Oa
Nallagangula, Krishna Sumanth KS; Nagaraj, Shashidhar Kurpad SK; Venkataswamy, Lakshmaiah L; Chandrappa, Muninarayana M
Publication Date: 2018-01

Variant appearance in text: rs280519
PubMed Link: 29255622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma.

Lupus Science & Medicine
Bernatsky, Sasha S; Velásquez García, Héctor A HA; Spinelli, John J JJ; Gaffney, Patrick P; Smedby, Karin E KE; Ramsey-Goldman, Rosalind R; Wang, Sophia S SS; Adami, Hans-Olov HO; Albanes, Demetrius D; Angelucci, Emanuele E; Ansell, Stephen M SM; Asmann, Yan W YW; Becker, Nikolaus N; Benavente, Yolanda Y; Berndt, Sonja I SI; Bertrand, Kimberly A KA; Birmann, Brenda M BM; Boeing, Heiner H; Boffetta, Paolo P; Bracci, Paige M PM; Brennan, Paul P; Brooks-Wilson, Angela R AR; Cerhan, James R JR; Chanock, Stephen J SJ; Clavel, Jacqueline J; Conde, Lucia L; Cotenbader, Karen H KH; Cox, David G DG; Cozen, Wendy W; Crouch, Simon S; De Roos, Anneclaire J AJ; de Sanjose, Silvia S; Di Lollo, Simonetta S; Diver, W Ryan WR; Dogan, Ahmet A; Foretova, Lenka L; Ghesquières, Hervé H; Giles, Graham G GG; Glimelius, Bengt B; Habermann, Thomas M TM; Haioun, Corinne C; Hartge, Patricia P; Hjalgrim, Henrik H; Holford, Theodore R TR; Holly, Elizabeth A EA; Jackson, Rebecca D RD; Kaaks, Rudolph R; Kane, Eleanor E; Kelly, Rachel S RS; Klein, Robert J RJ; Kraft, Peter P; Kricker, Anne A; Lan, Qing Q; Lawrence, Charles C; Liebow, Mark M; Lightfoot, Tracy T; Link, Brian K BK; Maynadie, Marc M; McKay, James J; Melbye, Mads M; Molina, Thierry J TJ; Monnereau, Alain A; Morton, Lindsay M LM; Nieters, Alexandra A; North, Kari E KE; Novak, Anne J AJ; Offit, Kenneth K; Purdue, Mark P MP; Rais, Marco M; Riby, Jacques J; Roman, Eve E; Rothman, Nathaniel N; Salles, Gilles G; Severi, Gianluca G; Severson, Richard K RK; Skibola, Christine F CF; Slager, Susan L SL; Smith, Alex A; Smith, Martyn T MT; Southey, Melissa C MC; Staines, Anthony A; Teras, Lauren R LR; Thompson, Carrie A CA; Tilly, Hervé H; Tinker, Lesley F LF; Tjonneland, Anne A; Turner, Jenny J; Vajdic, Claire M CM; Vermeulen, Roel C H RCH; Vijai, Joseph J; Vineis, Paolo P; Virtamo, Jarmo J; Wang, Zhaoming Z; Weinstein, Stephanie S; Witzig, Thomas E TE; Zelenetz, Andrew A; Zeleniuch-Jacquotte, Anne A; Zhang, Yawei Y; Zheng, Tongzhang T; Zucca, Mariagrazia M; Clarke, Ann E AE
Publication Date: 2017

Variant appearance in text: rs280519
PubMed Link: 29214033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis.

Rmd Open
Juge, Pierre-Antoine PA; Gazal, Steven S; Constantin, Arnaud A; Mariette, Xavier X; Combe, Bernard B; Tebib, Jacques J; Dougados, Maxime M; Sibilia, Jean J; Le Loet, Xavier X; Dieudé, Philippe P
Publication Date: 2017

Variant appearance in text: rs280519
PubMed Link: 29071117
Variant Present in the following documents:
  • Main text
  • rmdopen-2017-000448.pdf
View BVdb publication page



Genotype combination contributes to psoriasis: An exhaustive algorithm perspective.

Plos One
Dou, Jinfa J; Guo, Huimin H; Cheng, Fang F; Huang, Hequn H; Fu, Liying L; Li, Longnian L; Yang, Chao C; Ye, Lei L; Wen, Leilei L; Cheng, Yuyan Y; Tang, Lili L; Zhu, Caihong C; Zhu, Zhengwei Z; Wang, Wenjun W; Sheng, Yujun Y; Wang, Zaixing Z; Liu, Shengxiu S; Fan, Xing X; Zuo, Xianbo X; Zhou, Fusheng F; Sun, Liangdan L; Zheng, Xiaodong X; Zhang, Xuejun X
Publication Date: 2017

Variant appearance in text: rs280519
PubMed Link: 29020033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Human Molecular Genetics
Dand, Nick N; Mucha, Sören S; Tsoi, Lam C LC; Mahil, Satveer K SK; Stuart, Philip E PE; Arnold, Andreas A; Baurecht, Hansjörg H; Burden, A David AD; Callis Duffin, Kristina K; Chandran, Vinod V; Curtis, Charles J CJ; Das, Sayantan S; Ellinghaus, David D; Ellinghaus, Eva E; Enerback, Charlotta C; Esko, Tõnu T; Gladman, Dafna D DD; Griffiths, Christopher E M CEM; Gudjonsson, Johann E JE; Hoffman, Per P; Homuth, Georg G; Hüffmeier, Ulrike U; Krueger, Gerald G GG; Laudes, Matthias M; Lee, Sang Hyuck SH; Lieb, Wolfgang W; Lim, Henry W HW; Löhr, Sabine S; Mrowietz, Ulrich U; Müller-Nurayid, Martina M; Nöthen, Markus M; Peters, Annette A; Rahman, Proton P; Reis, André A; Reynolds, Nick J NJ; Rodriguez, Elke E; Schmidt, Carsten O CO; Spain, Sarah L SL; Strauch, Konstantin K; Tejasvi, Trilokraj T; Voorhees, John J JJ; Warren, Richard B RB; Weichenthal, Michael M; Weidinger, Stephan S; Zawistowski, Matthew M; Nair, Rajan P RP; Capon, Francesca F; Smith, Catherine H CH; Trembath, Richard C RC; Abecasis, Goncalo R GR; Elder, James T JT; Franke, Andre A; Simpson, Michael A MA; Barker, Jonathan N JN
Publication Date: 2017-11-01

Variant appearance in text: rs280519
PubMed Link: 28973304
Variant Present in the following documents:
  • Main text
  • ddx328.pdf
  • dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx, sheet 2
View BVdb publication page



Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C.

Plos One
López-Rodríguez, Rosario R; Hernández-Bartolomé, Ángel Á; Borque, María Jesús MJ; Rodríguez-Muñoz, Yolanda Y; Martín-Vílchez, Samuel S; García-Buey, Luisa L; González-Moreno, Leticia L; Real-Martínez, Yolanda Y; Muñoz de Rueda, Paloma P; Salmerón, Javier J; Vidal-Castiñeira, José Ramón JR; López-Larrea, Carlos C; Rodrigo, Luis L; Moreno-Otero, Ricardo R; Sanz-Cameno, Paloma P
Publication Date: 2017

Variant appearance in text: rs280519
PubMed Link: 28704535
Variant Present in the following documents:
  • Main text
  • pone.0180927.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs280519
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.

Arthritis & Rheumatology (Hoboken, N.J.)
Demirkaya, Erkan E; Zhou, Qing Q; Smith, Carolyne K CK; Ombrello, Michael J MJ; Deuitch, Natalie N; Tsai, Wanxia L WL; Hoffmann, Patrycja P; Remmers, Elaine F EF; Takeuchi, Masaki M; Park, Yong Hwan YH; Chae, JaeJin J; Barut, Kenan K; Simsek, Dogan D; Adrovic, Amra A; Sahin, Sezgin S; Caliskan, Salim S; Chandrasekharappa, Settara C SC; Hasni, Sarfaraz A SA; Ombrello, Amanda K AK; Gadina, Massimo M; Kastner, Daniel L DL; Kaplan, Mariana J MJ; Kasapcopur, Ozgur O; Aksentijevich, Ivona I
Publication Date: 2017-09

Variant appearance in text: rs280519
PubMed Link: 28544690
Variant Present in the following documents:
  • Main text
View BVdb publication page



The transcriptional STAT3 is a potential target, whereas transcriptional STAT5A/5B/6 are new biomarkers for prognosis in human breast carcinoma.

Oncotarget
Wu, Hua-Tao HT; Liu, Jing J; Li, Guan-Wu GW; Shen, Jia-Xin JX; Huang, Yi-Teng YT
Publication Date: 2017-05-30

Variant appearance in text: rs280519
PubMed Link: 28422733
Variant Present in the following documents:
  • Main text
  • oncotarget-08-36279.pdf
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: TYK2: 1669+7T>C; rs280519
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



A preliminary study of new single polymorphisms in the T helper type 17 pathway for psoriasis in the Korean population.

Clinical And Experimental Immunology
Kim, S Y SY; Hur, M S MS; Choi, B G BG; Kim, M J MJ; Lee, Y W YW; Choe, Y B YB; Ahn, K J KJ
Publication Date: 2017-02

Variant appearance in text: rs280519
PubMed Link: 27774581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Plos One
Barøy, Tale T; Chilamakuri, Chandra S R CS; Lorenz, Susanne S; Sun, Jinchang J; Bruland, Øyvind S ØS; Myklebost, Ola O; Meza-Zepeda, Leonardo A LA
Publication Date: 2016

Variant appearance in text: rs280519
PubMed Link: 27685995
Variant Present in the following documents:
  • pone.0163859.s005.xlsx, sheet 1
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: TYK2: 1669+7T>C; rs280519
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s3.xlsx, sheet 1
  • ncomms12475-s2.xlsx, sheet 1
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Several Critical Cell Types, Tissues, and Pathways Are Implicated in Genome-Wide Association Studies for Systemic Lupus Erythematosus.

G3 (Bethesda, Md.)
Liu, Lu L; Yin, Xianyong X; Wen, Leilei L; Yang, Chao C; Sheng, Yujun Y; Lin, Yan Y; Zhu, Zhengwei Z; Shen, Changbing C; Shi, Yinjuan Y; Zheng, Yajie Y; Yang, Sen S; Zhang, Xuejun X; Cui, Yong Y
Publication Date: 2016-06-01

Variant appearance in text: rs280519
PubMed Link: 27172182
Variant Present in the following documents:
  • supp_g3.116.027326_TableS1.pdf
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No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

European Journal Of Human Genetics : Ejhg
Meyer, Christian G CG; Intemann, Christopher D CD; Förster, Birgit B; Owusu-Dabo, Ellis E; Franke, Andre A; Horstmann, Rolf D RD; Thye, Thorsten T
Publication Date: 2016-05

Variant appearance in text: rs280519
PubMed Link: 26242990
Variant Present in the following documents:
  • Main text
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STAT3-Activating Cytokines: A Therapeutic Opportunity for Inflammatory Bowel Disease?

Journal Of Interferon & Cytokine Research : The Official Journal Of The International Society For Interferon And Cytokine Research
Nguyen, Paul M PM; Putoczki, Tracy L TL; Ernst, Matthias M
Publication Date: 2015-05

Variant appearance in text: rs280519
PubMed Link: 25760898
Variant Present in the following documents:
  • Main text
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Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

American Journal Of Human Genetics
Baurecht, Hansjörg H; Hotze, Melanie M; Brand, Stephan S; Büning, Carsten C; Cormican, Paul P; Corvin, Aiden A; Ellinghaus, David D; Ellinghaus, Eva E; Esparza-Gordillo, Jorge J; Fölster-Holst, Regina R; Franke, Andre A; Gieger, Christian C; Hubner, Norbert N; Illig, Thomas T; Irvine, Alan D AD; Kabesch, Michael M; Lee, Young A E YA; Lieb, Wolfgang W; Marenholz, Ingo I; McLean, W H Irwin WH; Morris, Derek W DW; Mrowietz, Ulrich U; Nair, Rajan R; Nöthen, Markus M MM; Novak, Natalija N; O'Regan, Grainne M GM; , ; Schreiber, Stefan S; Smith, Catherine C; Strauch, Konstantin K; Stuart, Philip E PE; Trembath, Richard R; Tsoi, Lam C LC; Weichenthal, Michael M; Barker, Jonathan J; Elder, James T JT; Weidinger, Stephan S; Cordell, Heather J HJ; Brown, Sara J SJ
Publication Date: 2015-01-08

Variant appearance in text: rs280519
PubMed Link: 25574825
Variant Present in the following documents:
  • mmc1.pdf
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Cellular adhesion gene SELP is associated with rheumatoid arthritis and displays differential allelic expression.

Plos One
Burkhardt, Jana J; Blume, Mechthild M; Petit-Teixeira, Elisabeth E; Hugo Teixeira, Vitor V; Steiner, Anke A; Quente, Elfi E; Wolfram, Grit G; Scholz, Markus M; Pierlot, Céline C; Migliorini, Paola P; Bombardieri, Stefano S; Balsa, Alejandro A; Westhovens, René R; Barrera, Pilar P; Radstake, Timothy R D J TR; Alves, Helena H; Bardin, Thomas T; Prum, Bernard B; Emmrich, Frank F; Cornelis, François F; Ahnert, Peter P; Kirsten, Holger H
Publication Date: 2014

Variant appearance in text: rs280519
PubMed Link: 25147926
Variant Present in the following documents:
  • Main text
  • pone.0103872.pdf
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Genetic variation in the JAK/STAT/SOCS signaling pathway influences breast cancer-specific mortality through interaction with cigarette smoking and use of aspirin/NSAIDs: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment
Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa M LM; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Stern, Mariana C MC; John, Esther M EM
Publication Date: 2014-08

Variant appearance in text: rs280519
PubMed Link: 25104439
Variant Present in the following documents:
  • Main text
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Clinical perspectives on lupus genetics: advances and opportunities.

Rheumatic Diseases Clinics Of North America
James, Judith A JA
Publication Date: 2014-08

Variant appearance in text: rs280519
PubMed Link: 25034154
Variant Present in the following documents:
  • Main text
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Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.

Current Genomics
J, De Azevêdo Silva de AS; C, Addobbati A; P, Sandrin-Garcia SG; S, Crovella C
Publication Date: 2014-02

Variant appearance in text: rs280519
PubMed Link: 24653663
Variant Present in the following documents:
  • Main text
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Univariation and multiple linear regression analyses for 23 single nucleotide polymorphisms in 14 chronic glomerular disease's predisposing genes and systemic lupus erythematosus in Han Chinese.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
Wang, Hui H; Sui, Weiguo W; Xue, Wen W; Wu, Junyong J; Cong, Shan S; Chen, Jiejing J; Dai, Yong Y
Publication Date: 2013-10

Variant appearance in text: rs280519
PubMed Link: 24497872
Variant Present in the following documents:
  • Main text
  • JRMS-18-927.pdf
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The role of 39 psoriasis risk variants on age of psoriasis onset.

Isrn Dermatology
Lu, Yingchang Y; Kane, Sinae S; Chen, Haoyan H; Leon, Argentina A; Levin, Ethan E; Nguyen, Tien T; Debbaneh, Maya M; Millsop, Jillian W JW; Gupta, Rishu R; Huynh, Monica M; Butler, Daniel D; Cordoro, Kelly K; Liao, Wilson W
Publication Date: 2013

Variant appearance in text: rs280519
PubMed Link: 24175098
Variant Present in the following documents:
  • Main text
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A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH
Publication Date: 2013

Variant appearance in text: rs280519
PubMed Link: 23326239
Variant Present in the following documents:
  • Main text
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Genetics of SLE: functional relevance for monocytes/macrophages in disease.

Clinical & Developmental Immunology
Byrne, Jennifer C JC; Ní Gabhann, Joan J; Lazzari, Elisa E; Mahony, Rebecca R; Smith, Siobhán S; Stacey, Kevin K; Wynne, Claire C; Jefferies, Caroline A CA
Publication Date: 2012

Variant appearance in text: rs280519
PubMed Link: 23227085
Variant Present in the following documents:
  • Main text
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Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

European Journal Of Human Genetics : Ejhg
Oosterveer, Daniëlla M DM; Versmissen, Jorie J; Defesche, Joep C JC; Sivapalaratnam, Suthesh S; Yazdanpanah, Mojgan M; Mulder, Monique M; van der Zee, Leonie L; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Hofman, Albert A; Kastelein, John J P JJ; Aulchenko, Yurii S YS; Sijbrands, Eric J G EJ
Publication Date: 2013-05

Variant appearance in text: rs280519
PubMed Link: 22968135
Variant Present in the following documents:
  • Main text
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Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Liu, Jimmy Z JZ; Almarri, Mohamed A MA; Gaffney, Daniel J DJ; Mells, George F GF; Jostins, Luke L; Cordell, Heather J HJ; Ducker, Samantha J SJ; Day, Darren B DB; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Bathgate, Andrew J AJ; Burroughs, Andrew A; Davies, Mervyn H MH; Jones, David E DE; Alexander, Graeme J GJ; Barrett, Jeffrey C JC; Sandford, Richard N RN; Anderson, Carl A CA; , ; ,
Publication Date: 2012-10

Variant appearance in text: rs280519
PubMed Link: 22961000
Variant Present in the following documents:
  • Main text
  • ukmss-49675.pdf
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Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.

Journal Of Leukocyte Biology
Vaughn, Samuel E SE; Kottyan, Leah C LC; Munroe, Melissa E ME; Harley, John B JB
Publication Date: 2012-09

Variant appearance in text: rs280519
PubMed Link: 22753952
Variant Present in the following documents:
  • Main text
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The genetics of lupus: a functional perspective.

Arthritis Research & Therapy
Guerra, Sandra G SG; Vyse, Timothy J TJ; Cunninghame Graham, Deborah S DS
Publication Date: 2012-05-29

Variant appearance in text: rs280519
PubMed Link: 22640752
Variant Present in the following documents:
  • Main text
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Lupus nephritis: an overview of recent findings.

Autoimmune Diseases
de Zubiria Salgado, Alberto A; Herrera-Diaz, Catalina C
Publication Date: 2012

Variant appearance in text: rs280519
PubMed Link: 22536486
Variant Present in the following documents:
  • Main text
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JAK/STAT/SOCS-signaling pathway and colon and rectal cancer.

Molecular Carcinogenesis
Slattery, Martha L ML; Lundgreen, Abbie A; Kadlubar, Susan A SA; Bondurant, Kristina L KL; Wolff, Roger K RK
Publication Date: 2013-02

Variant appearance in text: rs280519
PubMed Link: 22121102
Variant Present in the following documents:
  • Main text
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Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.

Plos Genetics
Cunninghame Graham, Deborah S DS; Morris, David L DL; Bhangale, Tushar R TR; Criswell, Lindsey A LA; Syvänen, Ann-Christine AC; Rönnblom, Lars L; Behrens, Timothy W TW; Graham, Robert R RR; Vyse, Timothy J TJ
Publication Date: 2011-10

Variant appearance in text: rs280519
PubMed Link: 22046141
Variant Present in the following documents:
  • Main text
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