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  1. AU="Gábor Bedics"
  2. AU=Nipp Ryan D.
  3. AU="Lucero, D E"
  4. AU="Isik, C"
  5. AU="Lange, Lana"
  6. AU="Morris, Ray"
  7. AU="Sun, Xiankai"
  8. AU=Jeggo Penny A.
  9. AU="Kanthamneni, Naveen"
  10. AU="Di Lorenzo, Raffaele"
  11. AU="Tiraboschi, Juan M"
  12. AU="Xiang, Jinzhu"
  13. AU="Diehl, Kyra"
  14. AU="Aparicio-Yuste, Raul"
  15. AU="Jiang, Gengbo"
  16. AU=Murrell Dedee F AU=Murrell Dedee F
  17. AU=Gupta Riya
  18. AU="Elmasry, Dalia M A" AU="Elmasry, Dalia M A"
  19. AU=Rosa Rafael Fabiano Machado
  20. AU="Bhatia, Vishwas"
  21. AU="Buchwitz, Michael"
  22. AU="Sadrozinski, H-F W."
  23. AU="Allan, Rachel"
  24. AU="Ma, Jiele"
  25. AU="Bizjak, Isabella"
  26. AU="Pelucchi, Paride"
  27. AU="Krug, Anne Barbara"
  28. AU="Pikridas, M"
  29. AU="Adams, Jonathan D"
  30. AU="Esquivel-Muelbert, A."
  31. AU="Khan, Meraj Alam"
  32. AU="Bullard, Stevan"
  33. AU="Wang, Peter H"
  34. AU="Preto, Jordane"
  35. AU="Pierce, Shaketha"
  36. AU="Sankar, Jishnu"
  37. AU="Yahagi, Naohisa"
  38. AU=Pinho Juliana
  39. AU="Brennan, Anna"
  40. AU="Lee, Theresa M"
  41. AU="Chunqing Ou"
  42. AU="Gwynn, Simon"
  43. AU="Holper, Sarah"
  44. AU="Haider, Farag Ibrahim"
  45. AU="Rice, Jordin L"
  46. AU="Gong, Xingguo"
  47. AU=Rother Magdalena B.
  48. AU="Petrov, Ksenia"
  49. AU="Rijneveld, R"
  50. AU=Lopez-Martinez Briceida
  51. AU=Astone Pia
  52. AU="Amaral, V"

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  1. Artikel ; Online: Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas

    Gábor Bedics / Péter Szőke / Bence Bátai / Tibor Nagy / Gergő Papp / Noémi Kránitz / Hajnalka Rajnai / Lilla Reiniger / Csaba Bödör / Bálint Scheich

    Scientific Reports, Vol 13, Iss 1, Pp 1-

    2023  Band 12

    Abstract: Abstract Glioblastomas are the most common IDH-wildtype adult high-grade gliomas, frequently harboring mutations in the TERT gene promoter (pTERT) and utilizing the subsequent telomerase overexpression for telomere length maintenance. However, some rare ... ...

    Abstract Abstract Glioblastomas are the most common IDH-wildtype adult high-grade gliomas, frequently harboring mutations in the TERT gene promoter (pTERT) and utilizing the subsequent telomerase overexpression for telomere length maintenance. However, some rare cases show loss of ATRX and use alternative mechanisms of telomere lengthening. In this study, we performed the first complex genomic analysis specifically concentrating on the latter subgroup. Comprehensive genomic profiling of 12 ATRX-deficient and 13 ATRX-intact IDH-wildtype adult high-grade gliomas revealed that ATRX and pTERT mutations are mutually exclusive. DNMT3A alterations were confined to ATRX-deficient, while PTEN mutations to ATRX-intact cases. RAS–MAPK pathway alterations, including NF1 mutations, were more characteristic in the ATRX-deficient group. Variants of genes related to homologous recombination repair showed different patterns of affected genes. Two ATRX-deficient tumors with high tumor mutational burden and mismatch repair deficiency were found. One of these contained a novel fusion involving the NTRK2 and LRRFIP2 genes, while the other showed loss of MSH2 and MSH6 without genetic alterations in the encoding genes suggesting an epigenetic background. Genetic characteristics of ATRX-deficient IDH-wildtype adult high-grade gliomas suggest that these tumors are particularly intriguing targets of potential future therapeutic interventions including immunotherapies combined with MAPK pathway inhibition and DNA repair inhibitors.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2023-10-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Novel RICTOR amplification harbouring entities

    Dániel Sztankovics / Ildikó Krencz / Dorottya Moldvai / Titanilla Dankó / Ákos Nagy / Noémi Nagy / Gábor Bedics / András Rókusz / Gergő Papp / Anna-Mária Tőkés / Judit Pápay / Zoltán Sápi / Katalin Dezső / Csaba Bödör / Anna Sebestyén

    Scientific Reports, Vol 13, Iss 1, Pp 1-

    FISH validation of RICTOR amplification in tumour tissue after next-generation sequencing

    2023  Band 12

    Abstract: Abstract Alterations in mTOR signalling molecules, including RICTOR amplification, have been previously described in many cancers, particularly associated with poor prognosis. In this study, RICTOR copy number variation (CNV) results of diagnostic next- ... ...

    Abstract Abstract Alterations in mTOR signalling molecules, including RICTOR amplification, have been previously described in many cancers, particularly associated with poor prognosis. In this study, RICTOR copy number variation (CNV) results of diagnostic next-generation sequencing (NGS) were analysed in 420 various human malignant tissues. RICTOR amplification was tested by Droplet Digital PCR (ddPCR) and validated using the “gold standard” fluorescence in situ hybridisation (FISH). Additionally, the consequences of Rictor protein expression were also studied by immunohistochemistry. RICTOR amplification was presumed in 37 cases with CNV ≥ 3 by NGS, among these, 16 cases (16/420; 3.8%) could be validated by FISH, however, ddPCR confirmed only 11 RICTOR-amplified cases with lower sensitivity. Based on these, neither NGS nor ddPCR could replace traditional FISH in proof of RICTOR amplification. However, NGS could be beneficial to highlight potential RICTOR-amplified cases. The obtained results of the 14 different tumour types with FISH-validated RICTOR amplification demonstrate the importance of RICTOR amplification in a broad spectrum of tumours. The newly described RICTOR-amplified entities could initiate further collaborative studies with larger cohorts to analyse the prevalence of RICTOR amplification in rare diseases. Finally, our and further work could help to improve and expand future therapeutic opportunities for mTOR-targeted therapies.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2023-11-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

    Volltext online

    Zusatzmaterialien

    Kategorien

    Fernleihe an ZB MED

    Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.

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