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
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
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
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
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
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
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
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
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
Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene single nucleotide polymorphisms and its interaction with T2DM on pulmonary tuberculosis in Chinese Uygur population.
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
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; ,
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
Serum Immunoglobulin G Levels to Porphyromonas gingivalis Peptidylarginine Deiminase Affect Clinical Response to Biological Disease-Modifying Antirheumatic Drug in Rheumatoid Arthritis.
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
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
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
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
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
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
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
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
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
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