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Akademický článek

Pervasive structural heterogeneity rewires glioblastoma chromosomes to sustain patient-specific transcriptional programs

Autor: Ting Xie, Adi Danieli-Mackay, Mariachiara Buccarelli, Mariano Barbieri, Ioanna Papadionysiou, Q. Giorgio D’Alessandris, Claudia Robens, Nadine Übelmesser, Omkar Suhas Vinchure, Liverana Lauretti, Giorgio Fotia, Roland F. Schwarz, Xiaotao Wang, Lucia Ricci-Vitiani, Jay Gopalakrishnan, Roberto Pallini, Argyris Papantonis

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)

Abstract Glioblastoma multiforme (GBM) encompasses brain malignancies marked by phenotypic and transcriptional heterogeneity thought to render these tumors aggressive, resistant to therapy, and inevitably recurrent. However, little is known about how

Externí odkaz: https://doaj.org/article/b9a9957f48204cb99490c2d04c1f3281

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Akademický článek

Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk

Autor: Maria Stella de Biase, Florian Massip, Tzu-Ting Wei, Federico M. Giorgi, Rory Stark, Amanda Stone, Amy Gladwell, Martin O’Reilly, Daniel Schütte, Ines de Santiago, Kerstin B. Meyer, Florian Markowetz, Bruce A. J. Ponder, Robert C. Rintoul, Roland F. Schwarz

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-19 (2024)

Abstract Background Lung cancer is the leading cause of cancer-related death in the world. In contrast to many other cancers, a direct connection to modifiable lifestyle risk in the form of tobacco smoke has long been established. More than 50% of al

Externí odkaz: https://doaj.org/article/1477c061531644cca19787d9aa30b28b

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Akademický článek

Intercellular extrachromosomal DNA copy-number heterogeneity drives neuroblastoma cell state diversity

Autor: Maja C. Stöber, Rocío Chamorro González, Lotte Brückner, Thomas Conrad, Nadine Wittstruck, Annabell Szymansky, Angelika Eggert, Johannes H. Schulte, Richard P. Koche, Anton G. Henssen, Roland F. Schwarz, Kerstin Haase

Publikováno v: Cell Reports, Vol 43, Iss 9, Pp 114711- (2024)

Summary: Neuroblastoma exhibits significant inter- and intra-tumor genetic heterogeneity and varying clinical outcomes. Extrachromosomal DNAs (ecDNAs) may drive this heterogeneity by independently segregating during cell division, leading to rapid on

Externí odkaz: https://doaj.org/article/ab3a75bbde6043eaa8410044fc79d0e5

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Akademický článek

Spontaneous single-nucleotide substitutions and microsatellite mutations have distinct distributions of fitness effects.

Autor: Yevgeniy Plavskin, Maria Stella de Biase, Naomi Ziv, Libuše Janská, Yuan O Zhu, David W Hall, Roland F Schwarz, Daniel Tranchina, Mark L Siegal

Publikováno v: PLoS Biology, Vol 22, Iss 7, p e3002698 (2024)

The fitness effects of new mutations determine key properties of evolutionary processes. Beneficial mutations drive evolution, yet selection is also shaped by the frequency of small-effect deleterious mutations, whose combined effect can burden other

Externí odkaz: https://doaj.org/article/5cb40ad857414c808f0a543612444351

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