--- _id: '8547' abstract: - lang: eng text: The cerebral cortex contains multiple hierarchically organized areas with distinctive cytoarchitectonical patterns, but the cellular mechanisms underlying the emergence of this diversity remain unclear. Here, we have quantitatively investigated the neuronal output of individual progenitor cells in the ventricular zone of the developing mouse neocortex using a combination of methods that together circumvent the biases and limitations of individual approaches. We found that individual cortical progenitor cells show a high degree of stochasticity and generate pyramidal cell lineages that adopt a wide range of laminar configurations. Mathematical modelling these lineage data suggests that a small number of progenitor cell populations, each generating pyramidal cells following different stochastic developmental programs, suffice to generate the heterogenous complement of pyramidal cell lineages that collectively build the complex cytoarchitecture of the neocortex. acknowledgement: We thank I. Andrew and S.E. Bae for excellent technical assistance, F. Gage for plasmids, and K. Nave (Nex-Cre) for mouse colonies. We thank members of the Marín and Rico laboratories for stimulating discussions and ideas. Our research on this topic is supported by grants from the European Research Council (ERC-2017-AdG 787355 to O.M and ERC2016-CoG 725780 to S.H.) and Wellcome Trust (103714MA) to O.M. L.L. was the recipient of an EMBO long-term postdoctoral fellowship, R.B. received support from FWF Lise-Meitner program (M 2416) and F.K.W. was supported by an EMBO postdoctoral fellowship and is currently a Marie Skłodowska-Curie Fellow from the European Commission under the H2020 Programme. article_processing_charge: No author: - first_name: Alfredo full_name: Llorca, Alfredo last_name: Llorca - first_name: Gabriele full_name: Ciceri, Gabriele last_name: Ciceri - first_name: Robert J full_name: Beattie, Robert J id: 2E26DF60-F248-11E8-B48F-1D18A9856A87 last_name: Beattie orcid: 0000-0002-8483-8753 - first_name: Fong K. full_name: Wong, Fong K. last_name: Wong - first_name: Giovanni full_name: Diana, Giovanni last_name: Diana - first_name: Eleni full_name: Serafeimidou, Eleni last_name: Serafeimidou - first_name: Marian full_name: Fernández-Otero, Marian last_name: Fernández-Otero - first_name: Carmen full_name: Streicher, Carmen id: 36BCB99C-F248-11E8-B48F-1D18A9856A87 last_name: Streicher - first_name: Sebastian J. full_name: Arnold, Sebastian J. last_name: Arnold - first_name: Martin full_name: Meyer, Martin last_name: Meyer - first_name: Simon full_name: Hippenmeyer, Simon id: 37B36620-F248-11E8-B48F-1D18A9856A87 last_name: Hippenmeyer orcid: 0000-0003-2279-1061 - first_name: Miguel full_name: Maravall, Miguel last_name: Maravall - first_name: Oscar full_name: Marín, Oscar last_name: Marín citation: ama: Llorca A, Ciceri G, Beattie RJ, et al. Heterogeneous progenitor cell behaviors underlie the assembly of neocortical cytoarchitecture. bioRxiv. doi:10.1101/494088 apa: Llorca, A., Ciceri, G., Beattie, R. J., Wong, F. K., Diana, G., Serafeimidou, E., … Marín, O. (n.d.). Heterogeneous progenitor cell behaviors underlie the assembly of neocortical cytoarchitecture. bioRxiv. Cold Spring Harbor Laboratory. https://doi.org/10.1101/494088 chicago: Llorca, Alfredo, Gabriele Ciceri, Robert J Beattie, Fong K. Wong, Giovanni Diana, Eleni Serafeimidou, Marian Fernández-Otero, et al. “Heterogeneous Progenitor Cell Behaviors Underlie the Assembly of Neocortical Cytoarchitecture.” BioRxiv. Cold Spring Harbor Laboratory, n.d. https://doi.org/10.1101/494088. ieee: A. Llorca et al., “Heterogeneous progenitor cell behaviors underlie the assembly of neocortical cytoarchitecture,” bioRxiv. Cold Spring Harbor Laboratory. ista: Llorca A, Ciceri G, Beattie RJ, Wong FK, Diana G, Serafeimidou E, Fernández-Otero M, Streicher C, Arnold SJ, Meyer M, Hippenmeyer S, Maravall M, Marín O. Heterogeneous progenitor cell behaviors underlie the assembly of neocortical cytoarchitecture. bioRxiv, 10.1101/494088. mla: Llorca, Alfredo, et al. “Heterogeneous Progenitor Cell Behaviors Underlie the Assembly of Neocortical Cytoarchitecture.” BioRxiv, Cold Spring Harbor Laboratory, doi:10.1101/494088. short: A. Llorca, G. Ciceri, R.J. Beattie, F.K. Wong, G. Diana, E. Serafeimidou, M. Fernández-Otero, C. Streicher, S.J. Arnold, M. Meyer, S. Hippenmeyer, M. Maravall, O. Marín, BioRxiv (n.d.). date_created: 2020-09-21T12:01:50Z date_published: 2018-12-13T00:00:00Z date_updated: 2021-01-12T08:20:00Z day: '13' department: - _id: SiHi doi: 10.1101/494088 ec_funded: 1 language: - iso: eng main_file_link: - open_access: '1' url: https://doi.org/10.1101/494088 month: '12' oa: 1 oa_version: Preprint project: - _id: 260018B0-B435-11E9-9278-68D0E5697425 call_identifier: H2020 grant_number: '725780' name: Principles of Neural Stem Cell Lineage Progression in Cerebral Cortex Development - _id: 264E56E2-B435-11E9-9278-68D0E5697425 call_identifier: FWF grant_number: M02416 name: Molecular Mechanisms Regulating Gliogenesis in the Cerebral Cortex publication: bioRxiv publication_status: submitted publisher: Cold Spring Harbor Laboratory status: public title: Heterogeneous progenitor cell behaviors underlie the assembly of neocortical cytoarchitecture type: preprint user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87 year: '2018' ... --- _id: '20' abstract: - lang: eng text: 'Background: Norepinephrine (NE) signaling has a key role in white adipose tissue (WAT) functions, including lipolysis, free fatty acid liberation and, under certain conditions, conversion of white into brite (brown-in-white) adipocytes. However, acute effects of NE stimulation have not been described at the transcriptional network level. Results: We used RNA-seq to uncover a broad transcriptional response. The inference of protein-protein and protein-DNA interaction networks allowed us to identify a set of immediate-early genes (IEGs) with high betweenness, validating our approach and suggesting a hierarchical control of transcriptional regulation. In addition, we identified a transcriptional regulatory network with IEGs as master regulators, including HSF1 and NFIL3 as novel NE-induced IEG candidates. Moreover, a functional enrichment analysis and gene clustering into functional modules suggest a crosstalk between metabolic, signaling, and immune responses. Conclusions: Altogether, our network biology approach explores for the first time the immediate-early systems level response of human adipocytes to acute sympathetic activation, thereby providing a first network basis of early cell fate programs and crosstalks between metabolic and transcriptional networks required for proper WAT function.' acknowledgement: This work was funded by the German Centre for Diabetes Research (DZD) and the Austrian Science Fund (FWF, P25729-B19). article_processing_charge: No article_type: original author: - first_name: Juan full_name: Higareda Almaraz, Juan last_name: Higareda Almaraz - first_name: Michael full_name: Karbiener, Michael last_name: Karbiener - first_name: Maude full_name: Giroud, Maude last_name: Giroud - first_name: Florian full_name: Pauler, Florian id: 48EA0138-F248-11E8-B48F-1D18A9856A87 last_name: Pauler orcid: 0000-0002-7462-0048 - first_name: Teresa full_name: Gerhalter, Teresa last_name: Gerhalter - first_name: Stephan full_name: Herzig, Stephan last_name: Herzig - first_name: Marcel full_name: Scheideler, Marcel last_name: Scheideler citation: ama: Higareda Almaraz J, Karbiener M, Giroud M, et al. Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. BMC Genomics. 2018;19(1). doi:10.1186/s12864-018-5173-0 apa: Higareda Almaraz, J., Karbiener, M., Giroud, M., Pauler, F., Gerhalter, T., Herzig, S., & Scheideler, M. (2018). Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. BMC Genomics. BioMed Central. https://doi.org/10.1186/s12864-018-5173-0 chicago: Higareda Almaraz, Juan, Michael Karbiener, Maude Giroud, Florian Pauler, Teresa Gerhalter, Stephan Herzig, and Marcel Scheideler. “Norepinephrine Triggers an Immediate-Early Regulatory Network Response in Primary Human White Adipocytes.” BMC Genomics. BioMed Central, 2018. https://doi.org/10.1186/s12864-018-5173-0. ieee: J. Higareda Almaraz et al., “Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes,” BMC Genomics, vol. 19, no. 1. BioMed Central, 2018. ista: Higareda Almaraz J, Karbiener M, Giroud M, Pauler F, Gerhalter T, Herzig S, Scheideler M. 2018. Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. BMC Genomics. 19(1). mla: Higareda Almaraz, Juan, et al. “Norepinephrine Triggers an Immediate-Early Regulatory Network Response in Primary Human White Adipocytes.” BMC Genomics, vol. 19, no. 1, BioMed Central, 2018, doi:10.1186/s12864-018-5173-0. short: J. Higareda Almaraz, M. Karbiener, M. Giroud, F. Pauler, T. Gerhalter, S. Herzig, M. Scheideler, BMC Genomics 19 (2018). date_created: 2018-12-11T11:44:12Z date_published: 2018-11-03T00:00:00Z date_updated: 2023-09-13T09:10:47Z day: '03' ddc: - '570' department: - _id: SiHi doi: 10.1186/s12864-018-5173-0 external_id: isi: - '000450976700002' file: - access_level: open_access checksum: a56516e734dab589dc7f3e1915973b4d content_type: application/pdf creator: dernst date_created: 2018-12-17T14:52:57Z date_updated: 2020-07-14T12:45:23Z file_id: '5712' file_name: 2018_BMCGenomics_Higareda.pdf file_size: 4629784 relation: main_file file_date_updated: 2020-07-14T12:45:23Z has_accepted_license: '1' intvolume: ' 19' isi: 1 issue: '1' language: - iso: eng month: '11' oa: 1 oa_version: Published Version publication: BMC Genomics publication_identifier: issn: - 1471-2164 publication_status: published publisher: BioMed Central publist_id: '8035' quality_controlled: '1' related_material: record: - id: '9807' relation: research_data status: public - id: '9808' relation: research_data status: public scopus_import: '1' status: public title: Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes tmp: image: /images/cc_by.png legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0) short: CC BY (4.0) type: journal_article user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1 volume: 19 year: '2018' ... --- _id: '9807' abstract: - lang: eng text: Table S1. Genes with highest betweenness. Table S2. Local and Master regulators up-regulated. Table S3. Local and Master regulators down-regulated (XLSX 23 kb). article_processing_charge: No author: - first_name: Juan full_name: Higareda Almaraz, Juan last_name: Higareda Almaraz - first_name: Michael full_name: Karbiener, Michael last_name: Karbiener - first_name: Maude full_name: Giroud, Maude last_name: Giroud - first_name: Florian full_name: Pauler, Florian id: 48EA0138-F248-11E8-B48F-1D18A9856A87 last_name: Pauler orcid: 0000-0002-7462-0048 - first_name: Teresa full_name: Gerhalter, Teresa last_name: Gerhalter - first_name: Stephan full_name: Herzig, Stephan last_name: Herzig - first_name: Marcel full_name: Scheideler, Marcel last_name: Scheideler citation: ama: 'Higareda Almaraz J, Karbiener M, Giroud M, et al. Additional file 1: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. 2018. doi:10.6084/m9.figshare.7295339.v1' apa: 'Higareda Almaraz, J., Karbiener, M., Giroud, M., Pauler, F., Gerhalter, T., Herzig, S., & Scheideler, M. (2018). Additional file 1: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. Springer Nature. https://doi.org/10.6084/m9.figshare.7295339.v1' chicago: 'Higareda Almaraz, Juan, Michael Karbiener, Maude Giroud, Florian Pauler, Teresa Gerhalter, Stephan Herzig, and Marcel Scheideler. “Additional File 1: Of Norepinephrine Triggers an Immediate-Early Regulatory Network Response in Primary Human White Adipocytes.” Springer Nature, 2018. https://doi.org/10.6084/m9.figshare.7295339.v1.' ieee: 'J. Higareda Almaraz et al., “Additional file 1: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes.” Springer Nature, 2018.' ista: 'Higareda Almaraz J, Karbiener M, Giroud M, Pauler F, Gerhalter T, Herzig S, Scheideler M. 2018. Additional file 1: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes, Springer Nature, 10.6084/m9.figshare.7295339.v1.' mla: 'Higareda Almaraz, Juan, et al. Additional File 1: Of Norepinephrine Triggers an Immediate-Early Regulatory Network Response in Primary Human White Adipocytes. Springer Nature, 2018, doi:10.6084/m9.figshare.7295339.v1.' short: J. Higareda Almaraz, M. Karbiener, M. Giroud, F. Pauler, T. Gerhalter, S. Herzig, M. Scheideler, (2018). date_created: 2021-08-06T12:26:53Z date_published: 2018-11-03T00:00:00Z date_updated: 2023-09-13T09:10:47Z day: '03' department: - _id: SiHi doi: 10.6084/m9.figshare.7295339.v1 main_file_link: - open_access: '1' url: https://doi.org/10.6084/m9.figshare.7295339.v1 month: '11' oa: 1 oa_version: Published Version publisher: Springer Nature related_material: record: - id: '20' relation: used_in_publication status: public status: public title: 'Additional file 1: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes' type: research_data_reference user_id: 6785fbc1-c503-11eb-8a32-93094b40e1cf year: '2018' ... --- _id: '9808' abstract: - lang: eng text: Table S4. Counts per Gene per Million Reads Mapped. (XLSX 2751 kb). article_processing_charge: No author: - first_name: Juan full_name: Higareda Almaraz, Juan last_name: Higareda Almaraz - first_name: Michael full_name: Karbiener, Michael last_name: Karbiener - first_name: Maude full_name: Giroud, Maude last_name: Giroud - first_name: Florian full_name: Pauler, Florian id: 48EA0138-F248-11E8-B48F-1D18A9856A87 last_name: Pauler orcid: 0000-0002-7462-0048 - first_name: Teresa full_name: Gerhalter, Teresa last_name: Gerhalter - first_name: Stephan full_name: Herzig, Stephan last_name: Herzig - first_name: Marcel full_name: Scheideler, Marcel last_name: Scheideler citation: ama: 'Higareda Almaraz J, Karbiener M, Giroud M, et al. Additional file 3: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. 2018. doi:10.6084/m9.figshare.7295369.v1' apa: 'Higareda Almaraz, J., Karbiener, M., Giroud, M., Pauler, F., Gerhalter, T., Herzig, S., & Scheideler, M. (2018). Additional file 3: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes. Springer Nature. https://doi.org/10.6084/m9.figshare.7295369.v1' chicago: 'Higareda Almaraz, Juan, Michael Karbiener, Maude Giroud, Florian Pauler, Teresa Gerhalter, Stephan Herzig, and Marcel Scheideler. “Additional File 3: Of Norepinephrine Triggers an Immediate-Early Regulatory Network Response in Primary Human White Adipocytes.” Springer Nature, 2018. https://doi.org/10.6084/m9.figshare.7295369.v1.' ieee: 'J. Higareda Almaraz et al., “Additional file 3: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes.” Springer Nature, 2018.' ista: 'Higareda Almaraz J, Karbiener M, Giroud M, Pauler F, Gerhalter T, Herzig S, Scheideler M. 2018. Additional file 3: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes, Springer Nature, 10.6084/m9.figshare.7295369.v1.' mla: 'Higareda Almaraz, Juan, et al. Additional File 3: Of Norepinephrine Triggers an Immediate-Early Regulatory Network Response in Primary Human White Adipocytes. Springer Nature, 2018, doi:10.6084/m9.figshare.7295369.v1.' short: J. Higareda Almaraz, M. Karbiener, M. Giroud, F. Pauler, T. Gerhalter, S. Herzig, M. Scheideler, (2018). date_created: 2021-08-06T12:31:57Z date_published: 2018-11-03T00:00:00Z date_updated: 2023-09-13T09:10:47Z day: '03' department: - _id: SiHi doi: 10.6084/m9.figshare.7295369.v1 main_file_link: - open_access: '1' url: https://doi.org/10.6084/m9.figshare.7295369.v1 month: '11' oa: 1 oa_version: Published Version publisher: Springer Nature related_material: record: - id: '20' relation: used_in_publication status: public status: public title: 'Additional file 3: Of Norepinephrine triggers an immediate-early regulatory network response in primary human white adipocytes' type: research_data_reference user_id: 6785fbc1-c503-11eb-8a32-93094b40e1cf year: '2018' ... --- _id: '10' abstract: - lang: eng text: Genomic imprinting is an epigenetic process that leads to parent of origin-specific gene expression in a subset of genes. Imprinted genes are essential for brain development, and deregulation of imprinting is associated with neurodevelopmental diseases and the pathogenesis of psychiatric disorders. However, the cell-type specificity of imprinting at single cell resolution, and how imprinting and thus gene dosage regulates neuronal circuit assembly is still largely unknown. Here, MADM (Mosaic Analysis with Double Markers) technology was employed to assess genomic imprinting at single cell level. By visualizing MADM-induced uniparental disomies (UPDs) in distinct colors at single cell level in genetic mosaic animals, this experimental paradigm provides a unique quantitative platform to systematically assay the UPD-mediated imbalances in imprinted gene expression at unprecedented resolution. An experimental pipeline based on FACS, RNA-seq and bioinformatics analysis was established and applied to systematically map cell-type-specific ‘imprintomes’ in the mouse brain. The results revealed that parental-specific expression of imprinted genes per se is rarely cell-type-specific even at the individual cell level. Conversely, when we extended the comparison to downstream responses resulting from imbalanced imprinted gene expression, we discovered an unexpectedly high degree of cell-type specificity. Furthermore, we determined a novel function of genomic imprinting in cortical astrocyte production and in olfactory bulb (OB) granule cell generation. These results suggest important functional implication of genomic imprinting for generating cell-type diversity in the brain. In addition, MADM provides a powerful tool to study candidate genes by concomitant genetic manipulation and fluorescent labelling of single cells. MADM-based candidate gene approach was utilized to identify potential imprinted genes involved in the generation of cortical astrocytes and OB granule cells. We investigated p57Kip2, a maternally expressed gene and known cell cycle regulator. Although we found that p57Kip2 does not play a role in these processes, we detected an unexpected function of the paternal allele previously thought to be silent. Finally, we took advantage of a key property of MADM which is to allow unambiguous investigation of environmental impact on single cells. The experimental pipeline based on FACS and RNA-seq analysis of MADM-labeled cells was established to probe the functional differences of single cell loss of gene function compared to global loss of function on a transcriptional level. With this method, both common and distinct responses were isolated due to cell-autonomous and non-autonomous effects acting on genotypically identical cells. As a result, transcriptional changes were identified which result solely from the surrounding environment. Using the MADM technology to study genomic imprinting at single cell resolution, we have identified cell-type-specific gene expression, novel gene function and the impact of environment on single cell transcriptomes. Together, these provide important insights to the understanding of mechanisms regulating cell-type specificity and thus diversity in the brain. alternative_title: - ISTA Thesis article_processing_charge: No author: - first_name: Susanne full_name: Laukoter, Susanne id: 2D6B7A9A-F248-11E8-B48F-1D18A9856A87 last_name: Laukoter orcid: 0000-0002-7903-3010 citation: ama: Laukoter S. Role of genomic imprinting in cerebral cortex development. 2018:1-139. doi:10.15479/AT:ISTA:th1057 apa: Laukoter, S. (2018). Role of genomic imprinting in cerebral cortex development. Institute of Science and Technology Austria. https://doi.org/10.15479/AT:ISTA:th1057 chicago: Laukoter, Susanne. “Role of Genomic Imprinting in Cerebral Cortex Development.” Institute of Science and Technology Austria, 2018. https://doi.org/10.15479/AT:ISTA:th1057. ieee: S. Laukoter, “Role of genomic imprinting in cerebral cortex development,” Institute of Science and Technology Austria, 2018. ista: Laukoter S. 2018. Role of genomic imprinting in cerebral cortex development. Institute of Science and Technology Austria. mla: Laukoter, Susanne. Role of Genomic Imprinting in Cerebral Cortex Development. Institute of Science and Technology Austria, 2018, pp. 1–139, doi:10.15479/AT:ISTA:th1057. short: S. Laukoter, Role of Genomic Imprinting in Cerebral Cortex Development, Institute of Science and Technology Austria, 2018. date_created: 2018-12-11T11:44:08Z date_published: 2018-11-21T00:00:00Z date_updated: 2023-09-07T12:40:44Z day: '21' ddc: - '570' degree_awarded: PhD department: - _id: SiHi doi: 10.15479/AT:ISTA:th1057 file: - access_level: closed checksum: 41fdbf5fdce312802935d88a8ad9932c content_type: application/vnd.openxmlformats-officedocument.wordprocessingml.document creator: dernst date_created: 2019-05-10T07:47:04Z date_updated: 2019-11-23T23:30:03Z embargo_to: open_access file_id: '6396' file_name: Thesis_LaukoterSusanne_FINAL.docx file_size: 17949175 relation: source_file - access_level: open_access checksum: 53001a9a0c9e570e598d861bb0af28aa content_type: application/pdf creator: dernst date_created: 2019-05-10T07:47:04Z date_updated: 2021-02-11T11:17:16Z embargo: 2019-11-21 file_id: '6397' file_name: Thesis_LaukoterSusanne_FINAL.pdf file_size: 21187245 relation: main_file file_date_updated: 2021-02-11T11:17:16Z has_accepted_license: '1' language: - iso: eng month: '11' oa: 1 oa_version: Published Version page: 1 - 139 publication_identifier: issn: - 2663-337X publication_status: published publisher: Institute of Science and Technology Austria publist_id: '8046' pubrep_id: '1057' status: public supervisor: - first_name: Beatriz full_name: Vicoso, Beatriz id: 49E1C5C6-F248-11E8-B48F-1D18A9856A87 last_name: Vicoso orcid: 0000-0002-4579-8306 title: Role of genomic imprinting in cerebral cortex development type: dissertation user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1 year: '2018' ... --- _id: '28' abstract: - lang: eng text: 'This scientific commentary refers to ‘NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice’ by Szczurkowska et al. ' article_processing_charge: No author: - first_name: Ximena full_name: Contreras, Ximena id: 475990FE-F248-11E8-B48F-1D18A9856A87 last_name: Contreras - first_name: Simon full_name: Hippenmeyer, Simon id: 37B36620-F248-11E8-B48F-1D18A9856A87 last_name: Hippenmeyer orcid: 0000-0003-2279-1061 citation: ama: Contreras X, Hippenmeyer S. Incorrect trafficking route leads to autism. Brain a journal of neurology. 2018;141(9):2542-2544. doi:10.1093/brain/awy218 apa: Contreras, X., & Hippenmeyer, S. (2018). Incorrect trafficking route leads to autism. Brain a Journal of Neurology. Oxford University Press. https://doi.org/10.1093/brain/awy218 chicago: Contreras, Ximena, and Simon Hippenmeyer. “Incorrect Trafficking Route Leads to Autism.” Brain a Journal of Neurology. Oxford University Press, 2018. https://doi.org/10.1093/brain/awy218. ieee: X. Contreras and S. Hippenmeyer, “Incorrect trafficking route leads to autism,” Brain a journal of neurology, vol. 141, no. 9. Oxford University Press, pp. 2542–2544, 2018. ista: Contreras X, Hippenmeyer S. 2018. Incorrect trafficking route leads to autism. Brain a journal of neurology. 141(9), 2542–2544. mla: Contreras, Ximena, and Simon Hippenmeyer. “Incorrect Trafficking Route Leads to Autism.” Brain a Journal of Neurology, vol. 141, no. 9, Oxford University Press, 2018, pp. 2542–44, doi:10.1093/brain/awy218. short: X. Contreras, S. Hippenmeyer, Brain a Journal of Neurology 141 (2018) 2542–2544. date_created: 2018-12-11T11:44:14Z date_published: 2018-09-01T00:00:00Z date_updated: 2024-03-27T23:30:41Z day: '01' department: - _id: SiHi doi: 10.1093/brain/awy218 external_id: isi: - '000446548100012' intvolume: ' 141' isi: 1 issue: '9' language: - iso: eng month: '09' oa_version: None page: 2542 - 2544 publication: Brain a journal of neurology publication_status: published publisher: Oxford University Press quality_controlled: '1' related_material: record: - id: '7902' relation: part_of_dissertation status: public scopus_import: '1' status: public title: Incorrect trafficking route leads to autism type: journal_article user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1 volume: 141 year: '2018' ... --- _id: '713' abstract: - lang: eng text: To determine the dynamics of allelic-specific expression during mouse development, we analyzed RNA-seq data from 23 F1 tissues from different developmental stages, including 19 female tissues allowing X chromosome inactivation (XCI) escapers to also be detected. We demonstrate that allelic expression arising from genetic or epigenetic differences is highly tissue-specific. We find that tissue-specific strain-biased gene expression may be regulated by tissue-specific enhancers or by post-transcriptional differences in stability between the alleles. We also find that escape from X-inactivation is tissue-specific, with leg muscle showing an unexpectedly high rate of XCI escapers. By surveying a range of tissues during development, and performing extensive validation, we are able to provide a high confidence list of mouse imprinted genes including 18 novel genes. This shows that cluster size varies dynamically during development and can be substantially larger than previously thought, with the Igf2r cluster extending over 10 Mb in placenta. article_number: e25125 author: - first_name: Daniel full_name: Andergassen, Daniel last_name: Andergassen - first_name: Christoph full_name: Dotter, Christoph id: 4C66542E-F248-11E8-B48F-1D18A9856A87 last_name: Dotter - first_name: Dyniel full_name: Wenzel, Dyniel last_name: Wenzel - first_name: Verena full_name: Sigl, Verena last_name: Sigl - first_name: Philipp full_name: Bammer, Philipp last_name: Bammer - first_name: Markus full_name: Muckenhuber, Markus last_name: Muckenhuber - first_name: Daniela full_name: Mayer, Daniela last_name: Mayer - first_name: Tomasz full_name: Kulinski, Tomasz last_name: Kulinski - first_name: Hans full_name: Theussl, Hans last_name: Theussl - first_name: Josef full_name: Penninger, Josef last_name: Penninger - first_name: Christoph full_name: Bock, Christoph last_name: Bock - first_name: Denise full_name: Barlow, Denise last_name: Barlow - first_name: Florian full_name: Pauler, Florian id: 48EA0138-F248-11E8-B48F-1D18A9856A87 last_name: Pauler - first_name: Quanah full_name: Hudson, Quanah last_name: Hudson citation: ama: Andergassen D, Dotter C, Wenzel D, et al. Mapping the mouse Allelome reveals tissue specific regulation of allelic expression. eLife. 2017;6. doi:10.7554/eLife.25125 apa: Andergassen, D., Dotter, C., Wenzel, D., Sigl, V., Bammer, P., Muckenhuber, M., … Hudson, Q. (2017). Mapping the mouse Allelome reveals tissue specific regulation of allelic expression. ELife. eLife Sciences Publications. https://doi.org/10.7554/eLife.25125 chicago: Andergassen, Daniel, Christoph Dotter, Dyniel Wenzel, Verena Sigl, Philipp Bammer, Markus Muckenhuber, Daniela Mayer, et al. “Mapping the Mouse Allelome Reveals Tissue Specific Regulation of Allelic Expression.” ELife. eLife Sciences Publications, 2017. https://doi.org/10.7554/eLife.25125. ieee: D. Andergassen et al., “Mapping the mouse Allelome reveals tissue specific regulation of allelic expression,” eLife, vol. 6. eLife Sciences Publications, 2017. ista: Andergassen D, Dotter C, Wenzel D, Sigl V, Bammer P, Muckenhuber M, Mayer D, Kulinski T, Theussl H, Penninger J, Bock C, Barlow D, Pauler F, Hudson Q. 2017. Mapping the mouse Allelome reveals tissue specific regulation of allelic expression. eLife. 6, e25125. mla: Andergassen, Daniel, et al. “Mapping the Mouse Allelome Reveals Tissue Specific Regulation of Allelic Expression.” ELife, vol. 6, e25125, eLife Sciences Publications, 2017, doi:10.7554/eLife.25125. short: D. Andergassen, C. Dotter, D. Wenzel, V. Sigl, P. Bammer, M. Muckenhuber, D. Mayer, T. Kulinski, H. Theussl, J. Penninger, C. Bock, D. Barlow, F. Pauler, Q. Hudson, ELife 6 (2017). date_created: 2018-12-11T11:48:05Z date_published: 2017-08-14T00:00:00Z date_updated: 2021-01-12T08:11:57Z day: '14' ddc: - '576' department: - _id: GaNo - _id: SiHi doi: 10.7554/eLife.25125 file: - access_level: open_access checksum: 1ace3462e64a971b9ead896091829549 content_type: application/pdf creator: system date_created: 2018-12-12T10:13:36Z date_updated: 2020-07-14T12:47:50Z file_id: '5020' file_name: IST-2017-885-v1+1_elife-25125-figures-v2.pdf file_size: 6399510 relation: main_file - access_level: open_access checksum: 6241dc31eeb87b03facadec3a53a6827 content_type: application/pdf creator: system date_created: 2018-12-12T10:13:36Z date_updated: 2020-07-14T12:47:50Z file_id: '5021' file_name: IST-2017-885-v1+2_elife-25125-v2.pdf file_size: 4264398 relation: main_file file_date_updated: 2020-07-14T12:47:50Z has_accepted_license: '1' intvolume: ' 6' language: - iso: eng month: '08' oa: 1 oa_version: Published Version project: - _id: 25E9AF9E-B435-11E9-9278-68D0E5697425 call_identifier: FWF grant_number: P27201-B22 name: Revealing the mechanisms underlying drug interactions publication: eLife publication_identifier: issn: - 2050084X publication_status: published publisher: eLife Sciences Publications publist_id: '6971' pubrep_id: '885' quality_controlled: '1' scopus_import: 1 status: public title: Mapping the mouse Allelome reveals tissue specific regulation of allelic expression tmp: image: /images/cc_by.png legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0) short: CC BY (4.0) type: journal_article user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87 volume: 6 year: '2017' ... --- _id: '9707' abstract: - lang: eng text: Branching morphogenesis of the epithelial ureteric bud forms the renal collecting duct system and is critical for normal nephron number, while low nephron number is implicated in hypertension and renal disease. Ureteric bud growth and branching requires GDNF signaling from the surrounding mesenchyme to cells at the ureteric bud tips, via the Ret receptor tyrosine kinase and coreceptor Gfrα1; Ret signaling up-regulates transcription factors Etv4 and Etv5, which are also critical for branching. Despite extensive knowledge of the genetic control of these events, it is not understood, at the cellular level, how renal branching morphogenesis is achieved or how Ret signaling influences epithelial cell behaviors to promote this process. Analysis of chimeric embryos previously suggested a role for Ret signaling in promoting cell rearrangements in the nephric duct, but this method was unsuited to study individual cell behaviors during ureteric bud branching. Here, we use Mosaic Analysis with Double Markers (MADM), combined with organ culture and time-lapse imaging, to trace the movements and divisions of individual ureteric bud tip cells. We first examine wild-type clones and then Ret or Etv4 mutant/wild-type clones in which the mutant and wild-type sister cells are differentially and heritably marked by green and red fluorescent proteins. We find that, in normal kidneys, most individual tip cells behave as self-renewing progenitors, some of whose progeny remain at the tips while others populate the growing UB trunks. In Ret or Etv4 MADM clones, the wild-type cells generated at a UB tip are much more likely to remain at, or move to, the new tips during branching and elongation, while their Ret−/− or Etv4−/− sister cells tend to lag behind and contribute only to the trunks. By tracking successive mitoses in a cell lineage, we find that Ret signaling has little effect on proliferation, in contrast to its effects on cell movement. Our results show that Ret/Etv4 signaling promotes directed cell movements in the ureteric bud tips, and suggest a model in which these cell movements mediate branching morphogenesis. article_processing_charge: No author: - first_name: Paul full_name: Riccio, Paul last_name: Riccio - first_name: Christina full_name: Cebrián, Christina last_name: Cebrián - first_name: Hui full_name: Zong, Hui last_name: Zong - first_name: Simon full_name: Hippenmeyer, Simon id: 37B36620-F248-11E8-B48F-1D18A9856A87 last_name: Hippenmeyer orcid: 0000-0003-2279-1061 - first_name: Frank full_name: Costantini, Frank last_name: Costantini citation: ama: 'Riccio P, Cebrián C, Zong H, Hippenmeyer S, Costantini F. Data from: Ret and Etv4 promote directed movements of progenitor cells during renal branching morphogenesis. 2017. doi:10.5061/dryad.pk16b' apa: 'Riccio, P., Cebrián, C., Zong, H., Hippenmeyer, S., & Costantini, F. (2017). Data from: Ret and Etv4 promote directed movements of progenitor cells during renal branching morphogenesis. Dryad. https://doi.org/10.5061/dryad.pk16b' chicago: 'Riccio, Paul, Christina Cebrián, Hui Zong, Simon Hippenmeyer, and Frank Costantini. “Data from: Ret and Etv4 Promote Directed Movements of Progenitor Cells during Renal Branching Morphogenesis.” Dryad, 2017. https://doi.org/10.5061/dryad.pk16b.' ieee: 'P. Riccio, C. Cebrián, H. Zong, S. Hippenmeyer, and F. Costantini, “Data from: Ret and Etv4 promote directed movements of progenitor cells during renal branching morphogenesis.” Dryad, 2017.' ista: 'Riccio P, Cebrián C, Zong H, Hippenmeyer S, Costantini F. 2017. Data from: Ret and Etv4 promote directed movements of progenitor cells during renal branching morphogenesis, Dryad, 10.5061/dryad.pk16b.' mla: 'Riccio, Paul, et al. Data from: Ret and Etv4 Promote Directed Movements of Progenitor Cells during Renal Branching Morphogenesis. Dryad, 2017, doi:10.5061/dryad.pk16b.' short: P. Riccio, C. Cebrián, H. Zong, S. Hippenmeyer, F. Costantini, (2017). date_created: 2021-07-23T09:39:34Z date_published: 2017-01-14T00:00:00Z date_updated: 2022-08-25T13:34:55Z day: '14' department: - _id: SiHi doi: 10.5061/dryad.pk16b main_file_link: - open_access: '1' url: https://doi.org/10.5061/dryad.pk16b month: '01' oa: 1 oa_version: Published Version publisher: Dryad related_material: record: - id: '9702' relation: used_in_publication status: deleted status: public title: 'Data from: Ret and Etv4 promote directed movements of progenitor cells during renal branching morphogenesis' type: research_data_reference user_id: 6785fbc1-c503-11eb-8a32-93094b40e1cf year: '2017' ... --- _id: '1017' abstract: - lang: eng text: The development of the vertebrate central nervous system is reliant on a complex cascade of biological processes that include mitotic division, relocation of migrating neurons, and the extension of dendritic and axonal processes. Each of these cellular events requires the diverse functional repertoire of the microtubule cytoskeleton for the generation of forces, assembly of macromolecular complexes and transport of molecules and organelles. The tubulins are a multi-gene family that encode for the constituents of microtubules, and have been implicated in a spectrum of neurological disorders. Evidence is building that different tubulins tune the functional properties of the microtubule cytoskeleton dependent on the cell type, developmental profile and subcellular localisation. Here we review of the origins of the functional specification of the tubulin gene family in the developing brain at a transcriptional, translational, and post-transcriptional level. We remind the reader that tubulins are not just loading controls for your average Western blot. article_processing_charge: No author: - first_name: Martin full_name: Breuss, Martin last_name: Breuss - first_name: Ines full_name: Leca, Ines last_name: Leca - first_name: Thomas full_name: Gstrein, Thomas last_name: Gstrein - first_name: Andi H full_name: Hansen, Andi H id: 38853E16-F248-11E8-B48F-1D18A9856A87 last_name: Hansen - first_name: David full_name: Keays, David last_name: Keays citation: ama: 'Breuss M, Leca I, Gstrein T, Hansen AH, Keays D. Tubulins and brain development: The origins of functional specification. Molecular and Cellular Neuroscience. 2017;84:58-67. doi:10.1016/j.mcn.2017.03.002' apa: 'Breuss, M., Leca, I., Gstrein, T., Hansen, A. H., & Keays, D. (2017). Tubulins and brain development: The origins of functional specification. Molecular and Cellular Neuroscience. Academic Press. https://doi.org/10.1016/j.mcn.2017.03.002' chicago: 'Breuss, Martin, Ines Leca, Thomas Gstrein, Andi H Hansen, and David Keays. “Tubulins and Brain Development: The Origins of Functional Specification.” Molecular and Cellular Neuroscience. Academic Press, 2017. https://doi.org/10.1016/j.mcn.2017.03.002.' ieee: 'M. Breuss, I. Leca, T. Gstrein, A. H. Hansen, and D. Keays, “Tubulins and brain development: The origins of functional specification,” Molecular and Cellular Neuroscience, vol. 84. Academic Press, pp. 58–67, 2017.' ista: 'Breuss M, Leca I, Gstrein T, Hansen AH, Keays D. 2017. Tubulins and brain development: The origins of functional specification. Molecular and Cellular Neuroscience. 84, 58–67.' mla: 'Breuss, Martin, et al. “Tubulins and Brain Development: The Origins of Functional Specification.” Molecular and Cellular Neuroscience, vol. 84, Academic Press, 2017, pp. 58–67, doi:10.1016/j.mcn.2017.03.002.' short: M. Breuss, I. Leca, T. Gstrein, A.H. Hansen, D. Keays, Molecular and Cellular Neuroscience 84 (2017) 58–67. date_created: 2018-12-11T11:49:42Z date_published: 2017-10-01T00:00:00Z date_updated: 2023-09-22T09:42:15Z day: '01' ddc: - '571' department: - _id: SiHi doi: 10.1016/j.mcn.2017.03.002 external_id: isi: - '000415140700007' file: - access_level: open_access content_type: application/pdf creator: system date_created: 2018-12-12T10:09:19Z date_updated: 2018-12-12T10:09:19Z file_id: '4742' file_name: IST-2017-806-v1+2_1-s2.0-S1044743116302500-main_1_.pdf file_size: 1436377 relation: main_file file_date_updated: 2018-12-12T10:09:19Z has_accepted_license: '1' intvolume: ' 84' isi: 1 language: - iso: eng month: '10' oa: 1 oa_version: Published Version page: 58 - 67 publication: Molecular and Cellular Neuroscience publication_identifier: issn: - '10447431' publication_status: published publisher: Academic Press publist_id: '6377' pubrep_id: '806' quality_controlled: '1' scopus_import: '1' status: public title: 'Tubulins and brain development: The origins of functional specification' tmp: image: /images/cc_by_nc_nd.png legal_code_url: https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode name: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) short: CC BY-NC-ND (4.0) type: journal_article user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1 volume: 84 year: '2017' ... --- _id: '1016' abstract: - lang: eng text: The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These are commonly referred to as the tubulinopathies. Here we report the addition of recessive quadrupedalism, also known as Uner Tan syndrome (UTS), to the growing list of diseases caused by tubulin variants. Analysis of a consanguineous UTS family identified a biallelic TUBB2B mutation, resulting in a p.R390Q amino acid substitution. In addition to the identifying quadrupedal locomotion, all three patients showed severe cerebellar hypoplasia. None, however, displayed the basal ganglia malformations typically associated with TUBB2B mutations. Functional analysis of the R390Q substitution revealed that it did not affect the ability of β-tubulin to fold or become assembled into the α/β-heterodimer, nor did it influence the incorporation of mutant-containing heterodimers into microtubule polymers. The 390Q mutation in S. cerevisiae TUB2 did not affect growth under basal conditions, but did result in increased sensitivity to microtubule-depolymerizing drugs, indicative of a mild impact of this mutation on microtubule function. The TUBB2B mutation described here represents an unusual recessive mode of inheritance for missense-mediated tubulinopathies and reinforces the sensitivity of the developing cerebellum to microtubule defects. article_processing_charge: No author: - first_name: Martin full_name: Breuss, Martin last_name: Breuss - first_name: Thai full_name: Nguyen, Thai last_name: Nguyen - first_name: Anjana full_name: Srivatsan, Anjana last_name: Srivatsan - first_name: Ines full_name: Leca, Ines last_name: Leca - first_name: Guoling full_name: Tian, Guoling last_name: Tian - first_name: Tanja full_name: Fritz, Tanja last_name: Fritz - first_name: Andi H full_name: Hansen, Andi H id: 38853E16-F248-11E8-B48F-1D18A9856A87 last_name: Hansen - first_name: Damir full_name: Musaev, Damir last_name: Musaev - first_name: Jennifer full_name: Mcevoy Venneri, Jennifer last_name: Mcevoy Venneri - first_name: James full_name: Kiely, James last_name: Kiely - first_name: Rasim full_name: Rosti, Rasim last_name: Rosti - first_name: Eric full_name: Scott, Eric last_name: Scott - first_name: Uner full_name: Tan, Uner last_name: Tan - first_name: Richard full_name: Kolodner, Richard last_name: Kolodner - first_name: Nicholas full_name: Cowan, Nicholas last_name: Cowan - first_name: David full_name: Keays, David last_name: Keays - first_name: Joseph full_name: Gleeson, Joseph last_name: Gleeson citation: ama: Breuss M, Nguyen T, Srivatsan A, et al. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Human Molecular Genetics. 2017;26(2):258-269. doi:10.1093/hmg/ddw383 apa: Breuss, M., Nguyen, T., Srivatsan, A., Leca, I., Tian, G., Fritz, T., … Gleeson, J. (2017). Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Human Molecular Genetics. Oxford University Press. https://doi.org/10.1093/hmg/ddw383 chicago: Breuss, Martin, Thai Nguyen, Anjana Srivatsan, Ines Leca, Guoling Tian, Tanja Fritz, Andi H Hansen, et al. “Uner Tan Syndrome Caused by a Homozygous TUBB2B Mutation Affecting Microtubule Stability.” Human Molecular Genetics. Oxford University Press, 2017. https://doi.org/10.1093/hmg/ddw383. ieee: M. Breuss et al., “Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability,” Human Molecular Genetics, vol. 26, no. 2. Oxford University Press, pp. 258–269, 2017. ista: Breuss M, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, Mcevoy Venneri J, Kiely J, Rosti R, Scott E, Tan U, Kolodner R, Cowan N, Keays D, Gleeson J. 2017. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Human Molecular Genetics. 26(2), 258–269. mla: Breuss, Martin, et al. “Uner Tan Syndrome Caused by a Homozygous TUBB2B Mutation Affecting Microtubule Stability.” Human Molecular Genetics, vol. 26, no. 2, Oxford University Press, 2017, pp. 258–69, doi:10.1093/hmg/ddw383. short: M. Breuss, T. Nguyen, A. Srivatsan, I. Leca, G. Tian, T. Fritz, A.H. Hansen, D. Musaev, J. Mcevoy Venneri, J. Kiely, R. Rosti, E. Scott, U. Tan, R. Kolodner, N. Cowan, D. Keays, J. Gleeson, Human Molecular Genetics 26 (2017) 258–269. date_created: 2018-12-11T11:49:42Z date_published: 2017-01-01T00:00:00Z date_updated: 2023-09-22T09:42:42Z day: '01' department: - _id: SiHi doi: 10.1093/hmg/ddw383 external_id: isi: - '000397066400002' intvolume: ' 26' isi: 1 issue: '2' language: - iso: eng month: '01' oa_version: None page: 258 - 269 publication: Human Molecular Genetics publication_identifier: issn: - '09646906' publication_status: published publisher: Oxford University Press publist_id: '6379' quality_controlled: '1' scopus_import: '1' status: public title: Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability type: journal_article user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1 volume: 26 year: '2017' ...