Search Results - "O'Neill, Adam C"

The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis by Wade, Emma M., Halliday, Benjamin J., Jenkins, Zandra A., O'Neill, Adam C., Robertson, Stephen P.

“…The X‐linked filaminopathies represent a diverse group of clinical conditions, all caused by variants in the gene FLNA. FLNA encodes the widely expressed actin…”
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Human Kidney Cell Reprogramming: Applications for Disease Modeling and Personalized Medicine by O'NEILL, Adam C, RICARDO, Sharon D

“…The ability to reprogram fully differentiated cells into a pluripotent embryonic state, termed induced pluripotent stem cells (iPSCs), has been met with great…”
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Spatial Centrosome Proteomic Profiling of Human iPSC-derived Neural Cells by Uzbas, Fatma, O’Neill, Adam

“…The centrosome governs many pan-cellular processes including cell division, migration, and cilium formation. However, very little is known about its cell…”
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia by Heinzen, Erin L, O'Neill, Adam C, Zhu, Xiaolin, Allen, Andrew S, Bahlo, Melanie, Chelly, Jamel, Chen, Ming Hui, Dobyns, William B, Freytag, Saskia, Guerrini, Renzo, Leventer, Richard J, Poduri, Annapurna, Robertson, Stephen P, Walsh, Christopher A, Zhang, Mengqi

“…Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with…”
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Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome by Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.

“…Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that can be caused by mutations in genes encoding components of the…”
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Cohesin and CTCF differentially regulate spatiotemporal runx1 expression during zebrafish development by Marsman, Judith, O'Neill, Adam C., Kao, Betty Rui-Yun, Rhodes, Jenny M., Meier, Michael, Antony, Jisha, Mönnich, Maren, Horsfield, Julia A.

“…Runx1 is a transcription factor essential for definitive hematopoiesis. In all vertebrates, the Runx1 gene is transcribed from two promoters: a proximal…”
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Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia by Klaus, Johannes, Kanton, Sabina, Kyrousi, Christina, Ayo-Martin, Ane Cristina, Di Giaimo, Rossella, Riesenberg, Stephan, O’Neill, Adam C., Camp, J. Gray, Tocco, Chiara, Santel, Malgorzata, Rusha, Ejona, Drukker, Micha, Schroeder, Mariana, Götz, Magdalena, Robertson, Stephen P., Treutlein, Barbara, Cappello, Silvia

“…Malformations of the human cortex represent a major cause of disability 1 . Mouse models with mutations in known causal genes only partially recapitulate the…”
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Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity by O’Neill, Adam C., Uzbas, Fatma, Antognolli, Giulia, Merino, Florencia, Draganova, Kalina, Jäck, Alex, Zhang, Sirui, Pedini, Giorgia, Schessner, Julia P., Cramer, Kimberly, Schepers, Aloys, Metzger, Fabian, Esgleas, Miriam, Smialowski, Pawel, Guerrini, Renzo, Falk, Sven, Feederle, Regina, Freytag, Saskia, Wang, Zefeng, Bahlo, Melanie, Jungmann, Ralf, Bagni, Claudia, Borner, Georg H. H., Robertson, Stephen P., Hauck, Stefanie M., Götz, Magdalena

“…The centrosome provides an intracellular anchor for the cytoskeleton, regulating cell division, cell migration, and cilia formation. We used spatial proteomics…”
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ECE2 regulates neurogenesis and neuronal migration during human cortical development by Buchsbaum, Isabel Y, Kielkowski, Pavel, Giorgio, Grazia, O'Neill, Adam C, Di Giaimo, Rossella, Kyrousi, Christina, Khattak, Shahryar, Sieber, Stephan A, Robertson, Stephen P, Cappello, Silvia

“…During embryonic development, excitatory projection neurons migrate in the cerebral cortex giving rise to organised layers. Periventricular heterotopia (PH) is…”
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Nucleus size and DNA accessibility are linked to the regulation of paraspeckle formation in cellular differentiation by Grosch, Markus, Ittermann, Sebastian, Rusha, Ejona, Greisle, Tobias, Ori, Chaido, Truong, Dong-Jiunn Jeffery, O'Neill, Adam C, Pertek, Anna, Westmeyer, Gil Gregor, Drukker, Micha

“…Many long noncoding RNAs (lncRNAs) have been implicated in general and cell type-specific molecular regulation. Here, we asked what underlies the fundamental…”
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A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration by O’Neill, Adam C., Kyrousi, Christina, Klaus, Johannes, Leventer, Richard J., Kirk, Edwin P., Fry, Andrew, Pilz, Daniela T., Morgan, Tim, Jenkins, Zandra A., Drukker, Micha, Berkovic, Samuel F., Scheffer, Ingrid E., Guerrini, Renzo, Markie, David M., Götz, Magdalena, Cappello, Silvia, Robertson, Stephen P.

“…The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has…”
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Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity by Kyrousi, Christina, O’Neill, Adam C., Brazovskaja, Agnieska, He, Zhisong, Kielkowski, Pavel, Coquand, Laure, Di Giaimo, Rossella, D’ Andrea, Pierpaolo, Belka, Alexander, Forero Echeverry, Andrea, Mei, Davide, Lenge, Matteo, Cruceanu, Cristiana, Buchsbaum, Isabel Y., Khattak, Shahryar, Fabien, Guimiot, Binder, Elisabeth, Elmslie, Frances, Guerrini, Renzo, Baffet, Alexandre D., Sieber, Stephan A., Treutlein, Barbara, Robertson, Stephen P., Cappello, Silvia

“…Basal progenitors (BPs), including intermediate progenitors and basal radial glia, are generated from apical radial glia and are enriched in gyrencephalic…”
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Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex by O'Neill, Adam C, Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M, Kirk, Edwin P, Götz, Magdalena, Robertson, Stephen P, Cappello, Silvia

“…Disorders of neuronal mispositioning during brain development are phenotypically heterogeneous and their genetic causes remain largely unknown. Here, we report…”
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ECE 2 regulates neurogenesis and neuronal migration during human cortical development by Buchsbaum, Isabel Y, Kielkowski, Pavel, Giorgio, Grazia, O'Neill, Adam C, Di Giaimo, Rossella, Kyrousi, Christina, Khattak, Shahryar, Sieber, Stephan A, Robertson, Stephen P, Cappello, Silvia

“…Abstract During embryonic development, excitatory projection neurons migrate in the cerebral cortex giving rise to organised layers. Periventricular…”
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