| 1. |
- Choi, Dong-Joo, et al.
(author)
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The genomic landscape of familial glioma
- 2023
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In: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 9:17
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Journal article (peer-reviewed)abstract
- Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately 5% of glioma cases. We performed whole-genome sequencing on an exploratory cohort of 203 individuals from 189 families with a history of familial glioma and an additional validation cohort of 122 individuals from 115 families. We found significant enrichment of rare deleterious variants of seven genes in both cohorts, and the most significantly enriched gene was HERC2 (P = 0.0006). Furthermore, we identified rare noncoding variants in both cohorts that were predicted to affect transcription factor binding sites or cause cryptic splicing. Last, we selected a subset of discovered genes for validation by CRISPR knockdown screening and found that DMBT1, HP1BP3, and ZCH7B3 have profound impacts on proliferation. This study performs comprehensive surveillance of the genomic landscape of familial glioma.
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| 2. |
- Totani, R., et al.
(author)
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Core levels, valence band structures and unoccupied states of biphenylene films
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Other publication (other academic/artistic)abstract
- Biphenylene is a cyclic hydrocarbon made of two benzene rings connected by a cyclobutadiene ring. We performed a photoemission and near-edge absorption (PES and NEXAFS) spectroscopy investigation on biphenylene films of different thicknesses, deposited onto a Cu(111) crystal. By PES we studied the occupied core and valence levels, while NEXAFS gave us information on the unoccupied states. The obtained results have been compared to previous gas phase spectra and density functional theory (DFT) calculations on single biphenylene molecule to get insights in the film electronic structure and possible modification induces by the adsorption. Furthermore, NEXAFS results of biphenylene films of different thicknesses allowed the characterization of the molecular arrangement in the overlayer on the Cu surface and helped to clarify the substrate-molecule interactions.
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| 3. |
- Totani, R., et al.
(author)
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Electronic structure investigation of biphenylene films
- 2017
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In: Journal of Chemical Physics. - : American Institute of Physics (AIP). - 0021-9606 .- 1089-7690. ; 146:5
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Journal article (peer-reviewed)abstract
- Photoelectron Spectroscopy (PS) and Near-Edge X-ray Absorption Fine Structure (NEXAFS) spectroscopy have been used to investigate the occupied and empty density of states of biphenylene films of different thicknesses, deposited onto a Cu(111) crystal. The obtained results have been compared to previous gas phase spectra and single molecule Density Functional Theory (DFT) calculations to get insights into the possible modification of the molecular electronic structure in the film induced by the adsorption on a surface. Furthermore, NEXAFS measurements allowed characterizing the variation of the molecular arrangement with the film thickness and helped to clarify the substrate-molecule interaction. Published by AIP Publishing.
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