Search Results - "Murugan SM, Sakthivel"
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A cancer vaccine approach for personalized treatment of Lynch Syndrome
Published in Scientific reports (14-08-2018)“…Lynch syndrome (LS) is a cancer predisposition disorder wherein patients have a 70–80% lifetime risk of developing colorectal cancers (CRC). Finding germline…”
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Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome
Published in Nephrology (Carlton, Vic.) (01-06-2020)“…Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting…”
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61 Tumor mutational burden assessments by two commercial targeted sequencing assays
Published in Journal for immunotherapy of cancer (01-11-2020)“…BackgroundTumor mutational burden (TMB) is a key biomarker for immune checkpoint inhibitor across several cancer types. While TMB as calculated from whole…”
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Retrospective Next Generation DNA Sequencing Analysis in Patients with Hemophagocytic Lymphohistiocytosis (HLH) Highlights Genetic Variants Associated with Secondary/Late-Onset Disease
Published in Blood (08-12-2017)“…Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of uncontrolled cytotoxic T-lymphocyte and macrophage activation associated with…”
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Mutations in the Telomerase Complex and Expression Levels of the TERT Gene Determine Severity and Outcome of Disease in Aplastic Anemia Patients
Published in Blood (02-12-2016)“…Acquired Aplastic anemia (AA) is a bone marrow failure syndrome characterized by pancytopenia and marrow hypoplasia, and is mediated by immune destruction of…”
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