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http://purl.uniprot.org/citations/24531327http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24531327http://www.w3.org/2000/01/rdf-schema#comment"Classical Hodgkin lymphoma and primary mediastinal B cell lymphoma (PMBCL) are related lymphomas sharing pathological, molecular and clinical characteristics. Here we discovered by whole-genome and whole-transcriptome sequencing recurrent somatic coding-sequence mutations in the PTPN1 gene. Mutations were found in 6 of 30 (20%) Hodgkin lymphoma cases, in 6 of 9 (67%) Hodgkin lymphoma-derived cell lines, in 17 of 77 (22%) PMBCL cases and in 1 of 3 (33%) PMBCL-derived cell lines, consisting of nonsense, missense and frameshift mutations. We demonstrate that PTPN1 mutations lead to reduced phosphatase activity and increased phosphorylation of JAK-STAT pathway members. Moreover, silencing of PTPN1 by RNA interference in Hodgkin lymphoma cell line KM-H2 resulted in hyperphosphorylation and overexpression of downstream oncogenic targets. Our data establish PTPN1 mutations as new drivers in lymphomagenesis."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.org/dc/terms/identifier"doi:10.1038/ng.2900"xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Marra M.A."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Boyle M."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Shah S.P."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Tan K.L."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Gascoyne R.D."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Rimsza L.M."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Gaulard P."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Steidl C."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Connors J.M."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Ben-Neriah S."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Guiter C."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Haioun C."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Leroy K."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Savage K.J."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Woolcock B."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Lim R.S."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Gunawardana J."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Mottok A."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Chan F.C."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Telenius A."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Rogic S."xsd:string
http://purl.uniprot.org/citations/24531327http://purl.uniprot.org/core/author"Kridel R."xsd:string