Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: PSTPIP1[original query] |
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Autoinflammatory gene mutations in Behçet's disease. Annals of the rheumatic diseases 2007 Jun 66 (6): 832-4. Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou |
Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis. Arthritis and rheumatism 2008 Jul 58 (7): 2142-6. Day T G, Ramanan A V, Hinks A, Lamb R, Packham J, Wise C, Punaro M, Donn R |
Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients. Digestive diseases and sciences 2010 Jun 55 (6): 1681-8. André Marc F J, Aumaître Olivier, Grateau Gilles, Chamaillard Mathias, Costedoat-Chalumeau Nathalie, Cardoso Marie-Céleste, Henry-Berger Joëlle, Ramakrishna Balakrishnan S, Delpech Marc, Piette Jean-Charles, Creveaux Isabel |
Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum. Clinical and experimental dermatology 2011 Dec 36 (8): 889-95. Nesterovitch A B, Hoffman M D, Simon M, Petukhov P A, Tharp M D, Glant T |
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. Proceedings of the National Academy of Sciences of the United States of America 2013 May 110 (20): 8134-9. Kirino Yohei, Zhou Qing, Ishigatsubo Yoshiaki, Mizuki Nobuhisa, Tugal-Tutkun Ilknur, Seyahi Emire, Özyazgan Yilmaz, Ugurlu Serdal, Erer Burak, Abaci Neslihan, Ustek Duran, Meguro Akira, Ueda Atsuhisa, Takeno Mitsuhiro, Inoko Hidetoshi, Ombrello Michael J, Satorius Colleen L, Maskeri Baishali, Mullikin James C, Sun Hong-Wei, Gutierrez-Cruz Gustavo, Kim Yoonhee, Wilson Alexander F, Kastner Daniel L, Gül Ahmet, Remmers Elaine |
Independent replication analysis of genetic loci with previous evidence of association with juvenile idiopathic arthritis. Pediatric rheumatology online journal 2013 11 (1): 12. Ellis Justine A, Chavez Raul A, Pezic Angela, Ponsonby Anne-Louise, Akikusa Jonathan D, Allen Roger C, Munro Jane |
Genome-wide association study of recalcitrant atopic dermatitis in Korean children.
The Journal of allergy and clinical immunology 2015 Sep 136 (3): 678-684.e4. Kim Kyung Won, Myers Rachel A, Lee Ji Hyun, Igartua Catherine, Lee Kyung Eun, Kim Yoon Hee, Kim Eun-Jin, Yoon Dankyu, Lee Joo-Shil, Hirota Tomomitsu, Tamari Mayumi, Takahashi Atsushi, Kubo Michiaki, Choi Je-Min, Kim Kyu-Earn, Nicolae Dan L, Ober Carole, Sohn Myung Hy |
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach. Scientific reports 2017 8 7 (1): 8453. Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Ortiz-Fernández Lourdes, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Rosa Juliá María, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez De la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francis |
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. Pediatric blood & cancer 2018 9 66 (1): e27439. Hashmi Saman K, Bergstrom Katie, Bertuch Alison A, Despotovic Jenny M, Muscal Eyal, Xia Fan, Bi Weimin, Marcogliese Andrea, Diaz Ro |
MEGF10, a Glioma Survival-Associated Molecular Signature, Predicts IDH Mutation Status. Disease markers 2018 6 2018 5975216. Li Guanzhang, Wang Zhiliang, Zhang Chuanbao, Liu Xing, Yang Fuqiang, Sun Lihua, Liang Jingshan, Hu Huimin, Liu Yanwei, You Gan, Bao Zhaoshi, Zhang Wei, Wang Zheng, Jiang T |
Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. Scientific reports 2019 2 9 (1): 2777. Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Olivas-Martínez Israel, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Juliá María Rosa, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez de la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francis |
Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 Mar 26 (2): 60-62. Miyamae Takako, Hanaya Aki, Kawamoto Manabu, Tani Yumi, Kawaguchi Yasushi, Yamanaka Hisas |
Severe ulcerative proctitis, pyoderma gangrenosum, hidradenitis suppurativa and fever in a patient with a rare variant of the PSTPIP1 gene. Clinical and experimental dermatology 2021 7 46 (7): 1387-1390. Hieta N, Nuutinen H, Roivas J, Salminen K, Kujari H, Talve L, Toivonen M, Haanpää M |
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. HGG advances 2023 4 4 (2): 100187. Morales-Heil David J, Cao Li, Sweeney Cheryl, Malara Anna, Brown Frank, Milam Philip, Anadkat Milan, Kaffenberger Jessica, Kaffenberger Benjamin, Nagele Peter, Kirby Brian, Roberson Elisha D |
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- Page last updated:Apr 22, 2024
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