| 1. |
- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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| 2. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 3. |
- Catalano, Allison A, et al.
(författare)
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Neurosyphilis is characterized by a compartmentalized and robust neuroimmune response but not by neuronal injury.
- 2024
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Ingår i: Med (New York, N.Y.). - 2666-6340. ; 5:4
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Tidskriftsartikel (refereegranskat)abstract
- Neurosyphilis is increasing in prevalence but its pathophysiology remains incompletely understood. This study assessed for CNS-specific immune responses during neurosyphilis compared to syphilis without neurosyphilis and compared these immune profiles to those observed in other neuroinflammatory diseases.Participants with syphilis were categorized as having neurosyphilis if their cerebrospinal fluid (CSF)-venereal disease research laboratory (VDRL) test was reactive and as having syphilis without neurosyphilis if they had a non-reactive CSF-VDRL test and a white blood cell count <5/μL. Neurosyphilis and syphilis without neurosyphilis participants were matched by rapid plasma reagin titer and HIV status. CSF and plasma were assayed for markers of neuronal injury and glial and immune cell activation. Bulk RNA sequencing was performed on CSF cells, with results stratified by the presence of neurological symptoms.CSF neopterin and five CSF chemokines had levels significantly higher in individuals with neurosyphilis compared to those with syphilis without neurosyphilis, but no markers of neuronal injury or astrocyte activation were significantly elevated. The CSF transcriptome in neurosyphilis was characterized by genes involved in microglial activation and lipid metabolism and did not differ in asymptomatic versus symptomatic neurosyphilis cases.The CNS immune response observed in neurosyphilis was comparable to other neuroinflammatory diseases and was present in individuals with neurosyphilis regardless of neurological symptoms, yet there was minimal evidence for neuronal or astrocyte injury. These findings support the need for larger studies of the CSF inflammatory response in asymptomatic neurosyphilis.This work was funded by the National Institutes of Health, grants K23MH118999 (S.F.F.) and R01NS082120 (C.M.M.).
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| 4. |
- Marra, Christina M, et al.
(författare)
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Serum Neurofilament Light in Neurosyphilis: A Pilot Study.
- 2023
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Ingår i: Sexually transmitted diseases. - 1537-4521. ; 50:1, s. 42-44
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Tidskriftsartikel (refereegranskat)abstract
- Lumbar puncture is recommended for individuals with syphilis who have neurological symptoms, however symptoms have poor sensitivity for predicting symptomatic neurosyphilis. Neurofilament light chain (NfL) is a marker for neuroaxonal injury; cerebrospinal fluid concentrations are higher in symptomatic neurosyphilis than in uncomplicated syphilis or asymptomatic neurosyphilis.Serum NfL was quantified in 20 individuals with uncomplicated syphilis, 10 with asymptomatic neurosyphilis and 10 with symptomatic neurosyphilis using an ultrasensitive single molecule array assay; it was repeated a median of 12.5 months after neurosyphilis therapy. Serum NfL concentration was age-adjusted using a published formula.Age-adjusted serum NfL concentration was significantly higher in symptomatic neurosyphilis compared to each of the other two groups. It was above the highest value in uncomplicated syphilis in one of 10 participants with asymptomatic neurosyphilis and 3 of 10 with symptomatic neurosyphilis. Serum NfL concentration increased in one participant with asymptomatic neurosyphilis with possible treatment failure.If confirmed in a larger study, serum NfL may be a useful adjunct for identifying central nervous system infection by T. pallidum.
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