PTPN22 c.788G>A ;(p.R263Q)

Variant ID: 1-114394689-C-T

NM_015967.5(PTPN22):c.788G>A;(p.R263Q)

This variant was identified in 76 publications

View GRCh38 version.




Publications:


Molecular Mechanisms in Autoimmune Thyroid Disease.

Cells
Vargas-Uricoechea, Hernando H
Publication Date: 2023-03-16

Variant appearance in text: PTPN22: R263Q
PubMed Link: 36980259
Variant Present in the following documents:
  • Main text
  • cells-12-00918.pdf
View BVdb publication page



Analysis of PTPN22 -1123 G>C, +788 G>A and +1858 C>T Polymorphisms in Patients with Primary Sjögren's Syndrome.

Diagnostics (Basel, Switzerland)
Menchaca-Tapia, Paula Annahi PA; Marín-Rosales, Miguel M; Salazar-Camarena, Diana Celeste DC; Cruz, Alvaro A; Oregon-Romero, Edith E; Tapia-Llanos, Raziel R; Muñoz-Valle, José Francisco JF; Palafox-Sánchez, Claudia Azucena CA
Publication Date: 2023-02-27

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 36900045
Variant Present in the following documents:
  • Main text
  • diagnostics-13-00899.pdf
View BVdb publication page



Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review.

Medicina (Kaunas, Lithuania)
Tizaoui, Kalthoum K; Shin, Jae Il JI; Jeong, Gwang Hun GH; Yang, Jae Won JW; Park, Seoyeon S; Kim, Ji Hong JH; Hwang, Soo Young SY; Park, Se Jin SJ; Koyanagi, Ai A; Smith, Lee L
Publication Date: 2022-08-02

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 36013501
Variant Present in the following documents:
  • Main text
  • medicina-58-01034.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: rs33996649
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single-nucleotide polymorphisms as important risk factors of diabetes among Middle East population.

Human Genomics
Akhlaghipour, Iman I; Bina, Amir Reza AR; Mogharrabi, Mohammad Reza MR; Fanoodi, Ali A; Ebrahimian, Amir Reza AR; Khojasteh Kaffash, Soroush S; Babazadeh Baghan, Atefeh A; Khorashadizadeh, Mohammad Erfan ME; Taghehchian, Negin N; Moghbeli, Meysam M
Publication Date: 2022-04-02

Variant appearance in text: rs33996649
PubMed Link: 35366956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Biology
Akhtar, Mehran M; Ali, Yasir Y; Islam, Zia-Ul ZU; Arshad, Maria M; Rauf, Mamoona M; Ali, Muhammad M; Maodaa, Saleh N SN; Al-Farraj, Saleh A SA; El-Serehy, Hamed A HA; Jalil, Fazal F
Publication Date: 2021-06-04

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 34199962
Variant Present in the following documents:
  • Main text
  • biology-10-00501.pdf
View BVdb publication page



A novel CD209 polymorphism is associated with rheumatoid arthritis patients in Taiwan.

Journal Of Clinical Laboratory Analysis
Chan, Hua-Chen HC; Wang, Shu-Chen SC; Lin, Chia-Hui CH; Lin, Yuan-Zhao YZ; Li, Ruei-Nian RN; Yen, Jeng-Hsien JH
Publication Date: 2021-05

Variant appearance in text: PTPN22: R263Q
PubMed Link: 33792986
Variant Present in the following documents:
  • JCLA-35-e23751.pdf
View BVdb publication page



Influence of PTPN22 Allotypes on Innate and Adaptive Immune Function in Health and Disease.

Frontiers In Immunology
Armitage, Lucas H LH; Wallet, Mark A MA; Mathews, Clayton E CE
Publication Date: 2021

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 33717184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of PTPN22-C1858T Polymorphism With Susceptibility to Mycobacterium tuberculosis and Mycobacterium leprae Infection: A Meta-Analysis.

Frontiers In Immunology
Li, Shuping S; Wang, Xiaohua X; Zhao, Yuming Y; Yang, Juan J; Cui, Tianjiao T; Zhao, Zhizhuang Joe ZJ; Chen, Yun Y; Zheng, Zhihua Z
Publication Date: 2021

Variant appearance in text: rs33996649
PubMed Link: 33717071
Variant Present in the following documents:
  • Main text
  • fimmu-12-592841.pdf
View BVdb publication page



Modulation of TCR Signaling by Tyrosine Phosphatases: From Autoimmunity to Immunotherapy.

Frontiers In Cell And Developmental Biology
Castro-Sanchez, Patricia P; Teagle, Alexandra R AR; Prade, Sonja S; Zamoyska, Rose R
Publication Date: 2020

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 33425916
Variant Present in the following documents:
  • Main text
  • fcell-08-608747.pdf
View BVdb publication page



Differential regulation of JAK/STAT-signaling in patients with ulcerative colitis and Crohn's disease.

World Journal Of Gastroenterology
Cordes, Friederike F; Foell, Dirk D; Ding, John Nik JN; Varga, Georg G; Bettenworth, Dominik D
Publication Date: 2020-07-28

Variant appearance in text: rs33996649
PubMed Link: 32821070
Variant Present in the following documents:
  • Main text
  • WJG-26-4055.pdf
View BVdb publication page



Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo.

Biomarker Insights
Huraib, Ghaleb Bin GB; Al Harthi, Fahad F; Arfin, Misbahul M; Aljamal, Abdulrahman A; Alrawi, Abdulqader Saeed AS; Al-Asmari, Abdulrahman A
Publication Date: 2020

Variant appearance in text: PTPN22: R263Q
PubMed Link: 32076368
Variant Present in the following documents:
  • 10.1177_1177271920903038.pdf
View BVdb publication page



ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico.

Plos One
Ramírez-Bello, Julian J; Sun, Celi C; Valencia-Pacheco, Guillermo G; Singh, Bhupinder B; Barbosa-Cobos, Rosa Elda RE; Saavedra, Miguel A MA; López-Villanueva, Ricardo F RF; Nath, Swapan K SK
Publication Date: 2019

Variant appearance in text: PTPN22: R263Q
PubMed Link: 31774828
Variant Present in the following documents:
  • pone.0224543.pdf
View BVdb publication page



Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Scientific Reports
Vidmar, Lovro L; Maver, Ales A; Drulović, Jelena J; Sepčić, Juraj J; Novaković, Ivana I; Ristič, Smiljana S; Šega, Saša S; Peterlin, Borut B
Publication Date: 2019-06-24

Variant appearance in text: PTPN22: 788G>A; Arg263Gln; rs33996649
PubMed Link: 31235738
Variant Present in the following documents:
  • 41598_2019_45598_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Predispositions of Glucocorticoid Resistance and Therapeutic Outcomes in Polymyalgia Rheumatica and Giant Cell Arteritis.

Journal Of Clinical Medicine
Smutny, Tomas T; Barvik, Ivan I; Veleta, Tomas T; Pavek, Petr P; Soukup, Tomas T
Publication Date: 2019-04-27

Variant appearance in text: rs33996649
PubMed Link: 31035618
Variant Present in the following documents:
  • Main text
  • jcm-08-00582.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: PTPN22: R263Q; rs33996649
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach.

Journal Of Clinical Medicine
Tizaoui, Kalthoum K; Kim, Seon Hui SH; Jeong, Gwang Hun GH; Kronbichler, Andreas A; Lee, Kwang Seob KS; Lee, Keum Hwa KH; Shin, Jae Il JI
Publication Date: 2019-03-12

Variant appearance in text: PTPN22: Arg263Gln
PubMed Link: 30871019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System.

Molecules (Basel, Switzerland)
Tóth, Kinga Fanni KF; Ádám, Dorottya D; Bíró, Tamás T; Oláh, Attila A
Publication Date: 2019-03-06

Variant appearance in text: PTPN22: R263Q
PubMed Link: 30845666
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Autoimmune-Associated Single Nucleotide Polymorphism Within PTPN22 Correlates With Clinical Outcome After Lung Transplantation.

Frontiers In Immunology
Budding, Kevin K; van Setten, Jessica J; van de Graaf, Eduard A EA; van Rossum, Oliver A OA; Kardol-Hoefnagel, Tineke T; Kwakkel-van Erp, Johanna M JM; Oudijk, Erik-Jan D ED; Hack, C Erik CE; Otten, Henderikus G HG
Publication Date: 2018

Variant appearance in text: rs33996649
PubMed Link: 30705675
Variant Present in the following documents:
  • Main text
  • fimmu-09-03105.pdf
View BVdb publication page



Accelerating annotation of articles via automated approaches: evaluation of the neXtA5 curation-support tool by neXtProt.

Database : The Journal Of Biological Databases And Curation
Britan, Aurore A; Cusin, Isabelle I; Hinard, Valérie V; Mottin, Luc L; Pasche, Emilie E; Gobeill, Julien J; Rech de Laval, Valentine V; Gleizes, Anne A; Teixeira, Daniel D; Michel, Pierre-André PA; Ruch, Patrick P; Gaudet, Pascale P
Publication Date: 2018-01-01

Variant appearance in text: rs33996649
PubMed Link: 30576492
Variant Present in the following documents:
  • Main text
  • bay129.pdf
View BVdb publication page



The Contribution of PTPN22 to Rheumatic Disease.

Arthritis & Rheumatology (Hoboken, N.J.)
Mustelin, Tomas T; Bottini, Nunzio N; Stanford, Stephanie M SM
Publication Date: 2019-04

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 30507064
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein Tyrosine Phosphatases: Regulators of CD4 T Cells in Inflammatory Bowel Disease.

Frontiers In Immunology
Pike, Kelly A KA; Tremblay, Michel L ML
Publication Date: 2018

Variant appearance in text: rs33996649
PubMed Link: 30429852
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils.

Postepy Dermatologii I Alergologii
Rajendiran, Kalai Selvi KS; Rajappa, Medha M; Chandrashekar, Laxmisha L; Thappa, D M DM
Publication Date: 2018-06

Variant appearance in text: PTPN22: R263Q
PubMed Link: 30008646
Variant Present in the following documents:
  • PDIA-35-32960.pdf
View BVdb publication page



The Innate Immune System: A Trigger for Many Chronic Inflammatory Intestinal Diseases.

Inflammatory Intestinal Diseases
Kamada, Nobuhiko N; Rogler, Gerhard G
Publication Date: 2016-07

Variant appearance in text: rs33996649
PubMed Link: 29922660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics
Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I
Publication Date: 2018-05-30

Variant appearance in text: PTPN22: Arg263Gln; rs33996649
PubMed Link: 29843651
Variant Present in the following documents:
  • 12881_2018_608_MOESM1_ESM.pdf
View BVdb publication page



Regulation of autoimmune and anti-tumour T-cell responses by PTPN22.

Immunology
Brownlie, Rebecca J RJ; Zamoyska, Rose R; Salmond, Robert J RJ
Publication Date: 2018-07

Variant appearance in text: rs33996649
PubMed Link: 29512901
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of PTPN2/22 polymorphisms in pathophysiology of Crohn's disease.

World Journal Of Gastroenterology
Sharp, Robert C RC; Beg, Shazia A SA; Naser, Saleh A SA
Publication Date: 2018-02-14

Variant appearance in text: rs33996649
PubMed Link: 29456405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in Protein Tyrosine Phosphatase Non-receptor Type 2 and 22 (PTPN2/22) Are Linked to Hyper-Proliferative T-Cells and Susceptibility to Mycobacteria in Rheumatoid Arthritis.

Frontiers In Cellular And Infection Microbiology
Sharp, Robert C RC; Beg, Shazia A SA; Naser, Saleh A SA
Publication Date: 2018

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 29423382
Variant Present in the following documents:
  • Main text
  • fcimb-08-00011.pdf
View BVdb publication page



Functional polymorphisms in pre-miR146a and pre-miR499 are associated with systemic lupus erythematosus but not with rheumatoid arthritis or Graves' disease in Mexican patients.

Oncotarget
Alemán-Ávila, Isidro I; Jiménez-Morales, Mayra M; Beltrán-Ramírez, Olga O; Barbosa-Cobos, Rosa Elda RE; Jiménez-Morales, Silvia S; Sánchez-Muñoz, Fausto F; Valencia-Pacheco, Guillermo G; Amezcua-Guerra, Luis M LM; Juárez-Vicuña, Yaneli Y; Razo-Blanco Hernández, Dulce Milagro DM; Aguilera-Cartas, María Concepción MC; López-Villanueva, Ricardo F RF; Peralta-Zaragoza, Oscar O; Tovilla-Zárate, Carlos C; Ramírez-Bello, Julian J
Publication Date: 2017-11-03

Variant appearance in text: PTPN22: R263Q
PubMed Link: 29190882
Variant Present in the following documents:
  • oncotarget-08-91876.pdf
View BVdb publication page



Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene single nucleotide polymorphisms and its interaction with T2DM on pulmonary tuberculosis in Chinese Uygur population.

Oncotarget
Wang, Xian-Hua XH; Ma, Ai-Guo AG; Han, Xiu-Xia XX; Chen, Lei L; Liang, Hui H; Aishan-Litifu, ; Abudumijit-Ablez, ; Xue, Feng F
Publication Date: 2017-09-12

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 29029456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein tyrosine phosphatase non-receptor 22 and C-Src tyrosine kinase genes are down-regulated in patients with rheumatoid arthritis.

Scientific Reports
Remuzgo-Martínez, Sara S; Genre, Fernanda F; Castañeda, Santos S; Corrales, Alfonso A; Moreno-Fresneda, Pablo P; Ubilla, Begoña B; Mijares, Verónica V; Portilla, Virginia V; González-Vela, Jesús J; Pina, Trinitario T; Ocejo-Vinyals, Gonzalo G; Irure-Ventura, Juan J; Blanco, Ricardo R; Martín, Javier J; Llorca, Javier J; López-Mejías, Raquel R; González-Gay, Miguel A MA
Publication Date: 2017-09-05

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 28874816
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10915.pdf
View BVdb publication page



Inflammation-Related Gene Polymorphisms Associated With Primary Immune Thrombocytopenia.

Frontiers In Immunology
Li, Ju J; Ma, Sai S; Shao, Linlin L; Ma, Chunhong C; Gao, Chengjiang C; Zhang, Xiao-Hui XH; Hou, Ming M; Peng, Jun J
Publication Date: 2017

Variant appearance in text: rs33996649
PubMed Link: 28702029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Between Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Polymorphisms and Risk of Ankylosing Spondylitis: A Meta-analysis.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Weiming W; Meng, Xiantao X; Liu, Yupeng Y; Ma, Xiaojun X; Zhang, Qian Q; Li, Chunhui C; Li, Chenye C; Ren, Liubao L
Publication Date: 2017-05-30

Variant appearance in text: PTPN22: R263Q
PubMed Link: 28555069
Variant Present in the following documents:
  • medscimonit-23-2619.pdf
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Genotype-Phenotype Associations of the CD-Associated Single Nucleotide Polymorphism within the Gene Locus Encoding Protein Tyrosine Phosphatase Non-Receptor Type 22 in Patients of the Swiss IBD Cohort.

Plos One
Spalinger, Marianne R MR; Zeitz, Jonas J; Biedermann, Luc L; Rossel, Jean-Benoit JB; Sulz, Michael C MC; Frei, Pascal P; Scharl, Sylvie S; Vavricka, Stephan R SR; Fried, Michael M; Rogler, Gerhard G; Scharl, Michael M; ,
Publication Date: 2016

Variant appearance in text: rs33996649
PubMed Link: 27467733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.

Scientific Reports
Umemura, Takeji T; Joshita, Satoru S; Yamazaki, Tomoo T; Komatsu, Michiharu M; Katsuyama, Yoshihiko Y; Yoshizawa, Kaname K; Tanaka, Eiji E; Ota, Masao M
Publication Date: 2016-07-11

Variant appearance in text: rs33996649
PubMed Link: 27406031
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role for protein tyrosine phosphatase non-receptor type 22 in regulating intestinal homeostasis.

United European Gastroenterology Journal
Spalinger, Marianne R MR; Scharl, Michael M
Publication Date: 2016-06

Variant appearance in text: rs33996649
PubMed Link: 27403297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Serum Immunoglobulin G Levels to Porphyromonas gingivalis Peptidylarginine Deiminase Affect Clinical Response to Biological Disease-Modifying Antirheumatic Drug in Rheumatoid Arthritis.

Plos One
Kobayashi, Tetsuo T; Ito, Satoshi S; Kobayashi, Daisuke D; Shimada, Atsushi A; Narita, Ichiei I; Murasawa, Akira A; Nakazono, Kiyoshi K; Yoshie, Hiromasa H
Publication Date: 2016

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 27111223
Variant Present in the following documents:
  • Main text
  • pone.0154182.pdf
View BVdb publication page



Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis).

Arthritis Research & Therapy
López-Mejías, Raquel R; Genre, Fernanda F; Remuzgo-Martínez, Sara S; Pérez, Belén Sevilla BS; Castañeda, Santos S; Llorca, Javier J; Ortego-Centeno, Norberto N; Ubilla, Begoña B; Mijares, Verónica V; Pina, Trinitario T; Calvo-Río, Vanesa V; Palmou, Natalia N; Miranda-Filloy, José A JA; Parejo, Antonio Navas AN; Argila, Diego D; Sánchez-Pérez, Javier J; Rubio, Esteban E; Luque, Manuel León ML; Blanco-Madrigal, Juan María JM; Galíndez-Aguirregoikoa, Eva E; Ocejo-Vinyals, J Gonzalo JG; Martín, Javier J; Blanco, Ricardo R; González-Gay, Miguel A MA
Publication Date: 2015-10-13

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 26458874
Variant Present in the following documents:
  • Main text
  • 13075_2015_Article_796.pdf
View BVdb publication page



Immunogenetics of systemic lupus erythematosus: A comprehensive review.

Journal Of Autoimmunity
Ghodke-Puranik, Yogita Y; Niewold, Timothy B TB
Publication Date: 2015-11

Variant appearance in text: PTPN22: Arg263Gln
PubMed Link: 26324017
Variant Present in the following documents:
  • Main text
View BVdb publication page



Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)
van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY
Publication Date: 2015-10

Variant appearance in text: PTPN22: 750+2404G>A; R263Q
PubMed Link: 26122175
Variant Present in the following documents:
  • NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 9
View BVdb publication page



Role of protein tyrosine phosphatases in regulating the immune system: implications for chronic intestinal inflammation.

Inflammatory Bowel Diseases
Spalinger, Marianne R MR; McCole, Declan F DF; Rogler, Gerhard G; Scharl, Michael M
Publication Date: 2015-03

Variant appearance in text: rs33996649
PubMed Link: 25581833
Variant Present in the following documents:
  • Main text
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: PTPN22: R263Q; rs33996649
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: PTPN22: R263Q; rs33996649
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
View BVdb publication page



Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo.

Experimental And Therapeutic Medicine
Garcia-Melendez, Martha Elena ME; Salinas-Santander, Mauricio M; Sanchez-Dominguez, Celia C; Gonzalez-Cardenas, Hugo H; Cerda-Flores, Ricardo M RM; Ocampo-Candiani, Jorge J; Ortiz-López, Rocío R
Publication Date: 2014-11

Variant appearance in text: PTPN22: R263Q
PubMed Link: 25289035
Variant Present in the following documents:
  • etm-08-05-1433.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



PTPN22: the archetypal non-HLA autoimmunity gene.

Nature Reviews. Rheumatology
Stanford, Stephanie M SM; Bottini, Nunzio N
Publication Date: 2014-10

Variant appearance in text: PTPN22: Arg263Gln; rs33996649
PubMed Link: 25003765
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Lyp: R263Q
PubMed Link: 24653663
Variant Present in the following documents:
  • Main text
  • CG-15-52.pdf
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Genetics of the type I interferon pathway in systemic lupus erythematosus.

International Journal Of Clinical Rheumatology
Ghodke-Puranik, Yogita Y; Niewold, Timothy B TB
Publication Date: 2013-12-01

Variant appearance in text: PTPN22: Arg263Gln
PubMed Link: 24416080
Variant Present in the following documents:
  • Main text
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Tyrosine phosphatase PTPN22: multifunctional regulator of immune signaling, development, and disease.

Annual Review Of Immunology
Bottini, Nunzio N; Peterson, Erik J EJ
Publication Date: 2014

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 24364806
Variant Present in the following documents:
  • Main text
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PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes.

Plos One
Namjou, Bahram B; Kim-Howard, Xana X; Sun, Celi C; Adler, Adam A; Chung, Sharon A SA; Kaufman, Kenneth M KM; Kelly, Jennifer A JA; Glenn, Stuart B SB; Guthridge, Joel M JM; Scofield, Robert H RH; Kimberly, Robert P RP; Brown, Elizabeth E EE; Alarcón, Graciela S GS; Edberg, Jeffrey C JC; Kim, Jae-Hoon JH; Choi, Jiyoung J; Ramsey-Goldman, Rosalind R; Petri, Michelle A MA; Reveille, John D JD; Vilá, Luis M LM; Boackle, Susan A SA; Freedman, Barry I BI; Tsao, Betty P BP; Langefeld, Carl D CD; Vyse, Timothy J TJ; Jacob, Chaim O CO; Pons-Estel, Bernardo B; , ; Niewold, Timothy B TB; Moser Sivils, Kathy L KL; Merrill, Joan T JT; Anaya, Juan-Manuel JM; Gilkeson, Gary S GS; Gaffney, Patrick M PM; Bae, Sang-Cheol SC; Alarcón-Riquelme, Marta E ME; , ; Harley, John B JB; Criswell, Lindsey A LA; James, Judith A JA; Nath, Swapan K SK
Publication Date: 2013

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 23950893
Variant Present in the following documents:
  • Main text
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Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.

Annals Of The Rheumatic Diseases
Serrano, A A; Márquez, A A; Mackie, S L SL; Carmona, F D FD; Solans, R R; Miranda-Filloy, J A JA; Hernández-Rodríguez, J J; Cid, M C MC; Castañeda, S S; Morado, I C IC; Narváez, J J; Blanco, R R; Sopeña, B B; García-Villanueva, M J MJ; Monfort, J J; Ortego-Centeno, N N; Unzurrunzaga, A A; Marí-Alfonso, B B; Sánchez Martín, J J; de Miguel, E E; Magro, C C; Raya, E E; , ; , ; Braun, N N; Latus, J J; Molberg, O O; Lie, B A BA; Moosig, F F; Witte, T T; Morgan, A W AW; González-Gay, M A MA; Martín, J J
Publication Date: 2013-11

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 23946333
Variant Present in the following documents:
  • Main text
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Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.

Molecular Vision
Cénit, María Carmen MC; Márquez, Ana A; Cordero-Coma, Miguel M; Fonollosa, Alejandro A; Llorenç, Victor V; Artaraz, Joseba J; Díaz Valle, David D; Blanco, Ricardo R; Cañal, Joaquín J; Salom, David D; García Serrano, José Luis JL; de Ramón, Enrique E; José del Rio, María M; Gorroño-Echebarría, Marina Begoña MB; Martín-Villa, José Manuel JM; Molins, Blanca B; Ortego-Centeno, Norberto N; Martín, Javier J
Publication Date: 2013

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 23559857
Variant Present in the following documents:
  • Main text
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The autoimmune-predisposing variant of lymphoid tyrosine phosphatase favors T helper 1 responses.

Human Immunology
Vang, Torkel T; Landskron, Johannes J; Viken, Marte K MK; Oberprieler, Nikolaus N; Torgersen, Knut M KM; Mustelin, Tomas T; Tasken, Kjetil K; Tautz, Lutz L; Rickert, Robert C RC; Lie, Benedicte A BA
Publication Date: 2013-05

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 23333624
Variant Present in the following documents:
  • Main text
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Meta-analysis of 125 rheumatoid arthritis-related single nucleotide polymorphisms studied in the past two decades.

Plos One
Jiang, Yongshuai Y; Zhang, Ruijie R; Zheng, Jiajia J; Liu, Panpan P; Tang, Guoping G; Lv, Hongchao H; Zhang, Lanying L; Shang, Zhenwei Z; Zhan, Yuanbo Y; Lv, Wenhua W; Shi, Miao M; Zhang, Ruimin R
Publication Date: 2012

Variant appearance in text: rs33996649
PubMed Link: 23251581
Variant Present in the following documents:
  • Main text
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Potential of ayurgenomics approach in complex trait research: leads from a pilot study on rheumatoid arthritis.

Plos One
Juyal, Ramesh C RC; Negi, Sapna S; Wakhode, Preeti P; Bhat, Sulekha S; Bhat, Bheema B; Thelma, B K BK
Publication Date: 2012

Variant appearance in text: PTPN22: R263Q
PubMed Link: 23049851
Variant Present in the following documents:
  • pone.0045752.pdf
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Biochemical and functional studies of lymphoid-specific tyrosine phosphatase (Lyp) variants S201F and R266W.

Plos One
Liu, Jing J; Chen, Ming M; Li, Rong R; Yang, Fan F; Shi, Xuanren X; Zhu, Lichao L; Wang, Hong-Mei HM; Yao, Wei W; Liu, Qiji Q; Meng, Fan-Guo FG; Sun, Jin-Peng JP; Pang, Qi Q; Yu, Xiao X
Publication Date: 2012

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 22952725
Variant Present in the following documents:
  • Main text
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High basal activity of the PTPN22 gain-of-function variant blunts leukocyte responsiveness negatively affecting IL-10 production in ANCA vasculitis.

Plos One
Cao, Yali Y; Yang, Jiajin J; Colby, Kerry K; Hogan, Susan L SL; Hu, Yichun Y; Jennette, Caroline E CE; Berg, Elisabeth A EA; Zhang, Youkang Y; Jennette, J Charles JC; Falk, Ronald J RJ; Preston, Gloria A GA
Publication Date: 2012

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 22880107
Variant Present in the following documents:
  • Main text
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The genetic basis of graves' disease.

Current Genomics
Płoski, Rafał R; Szymański, Konrad K; Bednarczuk, Tomasz T
Publication Date: 2011-12

Variant appearance in text: PTPN22: R263Q
PubMed Link: 22654555
Variant Present in the following documents:
  • Main text
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Overexpression of the autoimmunity-associated phosphatase PTPN22 promotes survival of antigen-stimulated CLL cells by selectively activating AKT.

Blood
Negro, Roberto R; Gobessi, Stefania S; Longo, Pablo G PG; He, Yantao Y; Zhang, Zhong-Yin ZY; Laurenti, Luca L; Efremov, Dimitar G DG
Publication Date: 2012-06-28

Variant appearance in text: PTPN22: R263Q
PubMed Link: 22569400
Variant Present in the following documents:
  • Main text
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PTPN22 splice forms: a new role in rheumatoid arthritis.

Genome Medicine
Diaz-Gallo, Lina-Marcela LM; Martin, Javier J
Publication Date: 2012-02-24

Variant appearance in text: PTPN22: R263Q; rs33996649
PubMed Link: 22364193
Variant Present in the following documents:
  • Main text
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