Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PSTPIP1: 748G>C; Glu250Gln
PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?
Pediatric Rheumatology Online Journal
Whiteside, Bethany Gillies BG; Titheradge, Hannah H; Al-Abadi, Eslam E
PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.
Cellular And Molecular Life Sciences : Cmls
Manso, José A JA; Marcos, Tamara T; Ruiz-Martín, Virginia V; Casas, Javier J; Alcón, Pablo P; Sánchez Crespo, Mariano M; Bayón, Yolanda Y; de Pereda, José M JM; Alonso, Andrés A
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Nature Communications
, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
The Journal Of Allergy And Clinical Immunology
Holzinger, Dirk D; Fassl, Selina Kathleen SK; de Jager, Wilco W; Lohse, Peter P; Röhrig, Ute F UF; Gattorno, Marco M; Omenetti, Alessia A; Chiesa, Sabrina S; Schena, Francesca F; Austermann, Judith J; Vogl, Thomas T; Kuhns, Douglas B DB; Holland, Steven M SM; Rodríguez-Gallego, Carlos C; López-Almaraz, Ricardo R; Arostegui, Juan I JI; Colino, Elena E; Roldan, Rosa R; Fessatou, Smaragdi S; Isidor, Bertrand B; Poignant, Sylvaine S; Ito, Koichi K; Epple, Hans-Joerg HJ; Bernstein, Jonathan A JA; Jeng, Michael M; Frankovich, Jennifer J; Lionetti, Geraldina G; Church, Joseph A JA; Ong, Peck Y PY; LaPlant, Mona M; Abinun, Mario M; Skinner, Rod R; Bigley, Venetia V; Sachs, Ulrich J UJ; Hinze, Claas C; Hoppenreijs, Esther E; Ehrchen, Jan J; Foell, Dirk D; Chae, Jae Jin JJ; Ombrello, Amanda A; Aksentijevich, Ivona I; Sunderkoetter, Cord C; Roth, Johannes J
Publication Date: 2015-11
Variant appearance in text: PSTPIP1: 748G>C; E250Q
Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
Medicine
Marzano, Angelo V AV; Ceccherini, Isabella I; Gattorno, Marco M; Fanoni, Daniele D; Caroli, Francesco F; Rusmini, Marta M; Grossi, Alice A; De Simone, Clara C; Borghi, Orietta M OM; Meroni, Pier Luigi PL; Crosti, Carlo C; Cugno, Massimo M
Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins.
The Journal Of Biological Chemistry
Wang, Donghai D; Höing, Susanne S; Patterson, Heide Christine HC; Ahmad, Umtul M UM; Rathinam, Vijay A K VA; Rajewsky, Klaus K; Fitzgerald, Katherine A KA; Golenbock, Douglas T DT
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).
Arthritis And Rheumatism
Demidowich, Andrew P AP; Freeman, Alexandra F AF; Kuhns, Douglas B DB; Aksentijevich, Ivona I; Gallin, John I JI; Turner, Maria L ML; Kastner, Daniel L DL; Holland, Steven M SM
Publication Date: 2012-06
Variant appearance in text: PSTPIP1: 748G>C; E250Q
Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.
Current Genomics
Smith, Elisabeth J EJ; Allantaz, Florence F; Bennett, Lynda L; Zhang, Dongping D; Gao, Xiaochong X; Wood, Geryl G; Kastner, Daniel L DL; Punaro, Marilynn M; Aksentijevich, Ivona I; Pascual, Virginia V; Wise, Carol A CA
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.
Annals Of The Rheumatic Diseases
Ryan, J G JG; Masters, S L SL; Booty, M G MG; Habal, N N; Alexander, J D JD; Barham, B K BK; Remmers, E F EF; Barron, K S KS; Kastner, D L DL; Aksentijevich, I I
Pyrin Modulates the Intracellular Distribution of PSTPIP1.
Plos One
Waite, Andrea L AL; Schaner, Philip P; Richards, Neil N; Balci-Peynircioglu, Banu B; Masters, Seth L SL; Brydges, Susannah D SD; Fox, Michelle M; Hong, Arthur A; Yilmaz, Engin E; Kastner, Daniel L DL; Reinherz, Ellis L EL; Gumucio, Deborah L DL
The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.
Molecular Biology Of The Cell
Cooper, Kate M KM; Bennin, David A DA; Huttenlocher, Anna A
Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease.
Blood
Grosse, Johannes J; Chitu, Violeta V; Marquardt, Andreas A; Hanke, Petra P; Schmittwolf, Carolin C; Zeitlmann, Lutz L; Schropp, Patricia P; Barth, Bettina B; Yu, Philipp P; Paffenholz, Rainer R; Stumm, Gabriele G; Nehls, Michael M; Stanley, E Richard ER
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.
Bone
Ferguson, Polly J PJ; Bing, Xinyu X; Vasef, Mohammed A MA; Ochoa, Luis A LA; Mahgoub, Amar A; Waldschmidt, Thomas J TJ; Tygrett, Lorraine T LT; Schlueter, Annette J AJ; El-Shanti, Hatem H