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2023

Journal Article

Cellular and molecular functions of SETD2 in the central nervous system

Mitchell, Benjamin, Thor, Stefan and Piper, Michael (2023). Cellular and molecular functions of SETD2 in the central nervous system. Journal of Cell Science, 136 (21) jcs261406, 1-11. doi: 10.1242/jcs.261406

Cellular and molecular functions of SETD2 in the central nervous system

2023

Journal Article

Cytocipher determines significantly different populations of cells in single cell RNA-seq data

Balderson, Brad, Piper, Michael, Thor, Stefan and Boden, Mikael (2023). Cytocipher determines significantly different populations of cells in single cell RNA-seq data. Bioinformatics, 39 (7) btad435. doi: 10.1093/bioinformatics/btad435

Cytocipher determines significantly different populations of cells in single cell RNA-seq data

2023

Journal Article

A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall‐Smith Syndrome

Kooblall, Kreepa G., Stevenson, Mark, Stewart, Michelle, Harris, Lachlan, Zalucki, Oressia, Dewhurst, Hannah, Butterfield, Natalie, Leng, Houfu, Hough, Tertius A., Ma, Da, Siow, Bernard, Potter, Paul, Cox, Roger D., Brown, Stephen D. M., Horwood, Nicole, Wright, Benjamin, Lockstone, Helen, Buck, David, Vincent, Tonia L., Hannan, Fadil M., Bassett, J.H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C. and Thakker, Rajesh V. (2023). A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall‐Smith Syndrome. JBMR Plus, 7 (6) e10739, 1-14. doi: 10.1002/jbm4.10739

A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall‐Smith Syndrome

2022

Journal Article

Hydrocephalus in Nfix−/− mice is underpinned by changes in ependymal cell physiology

Harkins, Danyon, Harvey, Tracey J., Atterton, Cooper, Miller, Ingrid, Currey, Laura, Oishi, Sabrina, Kasherman, Maria, Davila, Raul Ayala, Harris, Lucy, Green, Kathryn, Piper, Hannah, Parton, Robert G., Thor, Stefan, Cooper, Helen M. and Piper, Michael (2022). Hydrocephalus in Nfix−/− mice is underpinned by changes in ependymal cell physiology. Cells, 11 (15) 2377, 1-27. doi: 10.3390/cells11152377

Hydrocephalus in Nfix−/− mice is underpinned by changes in ependymal cell physiology

2022

Journal Article

Reciprocal regulation of BRN2 and NOTCH1/2 signaling synergistically drives melanoma cell migration and invasion

Fane, Mitchell E., Chhabra, Yash, Spoerri, Loredana, Simmons, Jacinta L., Ludwig, Raquelle, Bonvin, Elise, Goding, Colin R., Sturm, Richard A., Boyle, Glen M., Haass, Nikolas K., Piper, Michael and Smith, Aaron G. (2022). Reciprocal regulation of BRN2 and NOTCH1/2 signaling synergistically drives melanoma cell migration and invasion. Journal of Investigative Dermatology, 142 (7), 1845-1857. doi: 10.1016/j.jid.2020.12.039

Reciprocal regulation of BRN2 and NOTCH1/2 signaling synergistically drives melanoma cell migration and invasion

2022

Journal Article

Functional divergence of the two Elongator subcomplexes during neurodevelopment

Gaik, Monika, Kojic, Marija, Stegeman, Megan R., Öncü‐Öner, Tülay, Kościelniak, Anna, Jones, Alun, Mohamed, Ahmed, Chau, Pak Yan Stefanie, Sharmin, Sazia, Chramiec‐Głąbik, Andrzej, Indyka, Paulina, Rawski, Michał, Biela, Anna, Dobosz, Dominika, Millar, Amanda, Chau, Vann, Ünalp, Aycan, Piper, Michael, Bellingham, Mark C., Eichler, Evan E., Nickerson, Deborah A., Güleryüz, Handan, Abbassi, Nour El Hana, Jazgar, Konrad, Davis, Melissa J., Mercimek‐Andrews, Saadet, Cingöz, Sultan, Wainwright, Brandon J. and Glatt, Sebastian (2022). Functional divergence of the two Elongator subcomplexes during neurodevelopment. EMBO Molecular Medicine, 14 (7) e15608, e15608. doi: 10.15252/emmm.202115608

Functional divergence of the two Elongator subcomplexes during neurodevelopment

2022

Journal Article

The DUB club: deubiquitinating enzymes and neurodevelopmental disorders

Jolly, Lachlan A., Kumar, Raman, Penzes, Peter, Piper, Michael and Gecz, Jozef (2022). The DUB club: deubiquitinating enzymes and neurodevelopmental disorders. Biological Psychiatry, 92 (8), 614-625. doi: 10.1016/j.biopsych.2022.03.022

The DUB club: deubiquitinating enzymes and neurodevelopmental disorders

2022

Journal Article

Selective requirement for polycomb repressor complex 2 in the generation of specific hypothalamic neuronal subtypes

Yaghmaeian Salmani, Behzad, Balderson, Brad, Bauer, Susanne, Ekman, Helen, Starkenberg, Annika, Perlmann, Thomas, Piper, Michael, Bodén, Mikael and Thor, Stefan (2022). Selective requirement for polycomb repressor complex 2 in the generation of specific hypothalamic neuronal subtypes. Development, 149 (5) dev200076. doi: 10.1242/dev.200076

Selective requirement for polycomb repressor complex 2 in the generation of specific hypothalamic neuronal subtypes

2022

Journal Article

Deletion of NFIX results in defective progression through meiosis within the mouse testis

Davila, Raul Ayala, Spiller, Cassy, Harkins, Danyon, Harvey, Tracey, Jordan, Philip W., Gronostajski, Richard M., Piper, Michael and Bowles, Josephine (2022). Deletion of NFIX results in defective progression through meiosis within the mouse testis. Biology of Reproduction, 106 (6), 1191-1205. doi: 10.1093/biolre/ioac049

Deletion of NFIX results in defective progression through meiosis within the mouse testis

2022

Journal Article

Identifying gene expression profiles associated with neurogenesis and inflammation in the human subependymal zone from development through aging

Bitar, Mainá, Weissleder, Christin, North, Hayley F., Clearwater, Misaki S., Zalucki, Oressia, Halliday, Glenda M., Webster, Maree J., Piper, Michael, Weickert, Cynthia Shannon and Barry, Guy (2022). Identifying gene expression profiles associated with neurogenesis and inflammation in the human subependymal zone from development through aging. Scientific Reports, 12 (1) 40, 40. doi: 10.1038/s41598-021-03976-4

Identifying gene expression profiles associated with neurogenesis and inflammation in the human subependymal zone from development through aging

2021

Journal Article

Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis

Rashidieh, Behnam, Shohayeb, Belal, Bain, Amanda Louise, Fortuna, Patrick R. J., Sinha, Debottam, Burgess, Andrew, Mills, Richard, Adams, Rachael C., Lopez, J. Alejandro, Blumbergs, Peter, Finnie, John, Kalimutho, Murugan, Piper, Michael, Hudson, James Edward, Ng, Dominic C. H. and Khanna, Kum Kum (2021). Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis. PLoS Genetics, 17 (10) e1009334, 1-31. doi: 10.1371/journal.pgen.1009334

Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis

2021

Journal Article

Genome-wide transcriptomic analysis of the forebrain of postnatal Slc13a4+/− mice

Harvey, Tracey J., Davila, Raul Ayala, Vidovic, Diana, Sharmin, Sazia, Piper, Michael and Simmons, David G. (2021). Genome-wide transcriptomic analysis of the forebrain of postnatal Slc13a4+/− mice. BMC Research Notes, 14 (1) 269, 269. doi: 10.1186/s13104-021-05687-5

Genome-wide transcriptomic analysis of the forebrain of postnatal Slc13a4+/− mice

2021

Journal Article

ChIP-R: Assembling reproducible sets of ChIP-seq and ATAC-seq peaks from multiple replicates

Newell, Rhys, Pienaar, Richard, Balderson, Brad, Piper, Michael, Essebier, Alexandra and Bodén, Mikael (2021). ChIP-R: Assembling reproducible sets of ChIP-seq and ATAC-seq peaks from multiple replicates. Genomics, 113 (4), 1855-1866. doi: 10.1016/j.ygeno.2021.04.026

ChIP-R: Assembling reproducible sets of ChIP-seq and ATAC-seq peaks from multiple replicates

2021

Journal Article

TEAD family transcription factors in development and disease

Currey, Laura, Thor, Stefan and Piper, Michael (2021). TEAD family transcription factors in development and disease. Development, 148 (12) dev196675. doi: 10.1242/dev.196675

TEAD family transcription factors in development and disease

2021

Journal Article

Reduced adult neurogenesis is associated with increased macrophages in the subependymal zone in schizophrenia

Weissleder, Christin, North, Hayley F., Bitar, Maina, Fullerton, Janice M., Sager, Rachel, Barry, Guy, Piper, Michael, Halliday, Glenda M., Webster, Maree J. and Shannon Weickert, Cynthia (2021). Reduced adult neurogenesis is associated with increased macrophages in the subependymal zone in schizophrenia. Molecular Psychiatry, 26 (11), 6880-6895. doi: 10.1038/s41380-021-01149-3

Reduced adult neurogenesis is associated with increased macrophages in the subependymal zone in schizophrenia

2021

Journal Article

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen ... Wainwright, Brandon J. (2021). Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nature Communications, 12 (1) 2678, 2678. doi: 10.1038/s41467-021-22888-5

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

2021

Journal Article

Perineuronal net abnormalities in Slc13a4+/- mice are rescued by postnatal administration of N-acetylcysteine

Sharmin, Sazia, Pradhan, Jonu, Zhang, Zhe, Bellingham, Mark, Simmons, David and Piper, Michael (2021). Perineuronal net abnormalities in Slc13a4+/- mice are rescued by postnatal administration of N-acetylcysteine. Experimental Neurology, 342 113734, 1-16. doi: 10.1016/j.expneurol.2021.113734

Perineuronal net abnormalities in Slc13a4+/- mice are rescued by postnatal administration of N-acetylcysteine

2021

Journal Article

Editorial: Context-dependent regulation of neurogenesis: common themes and unique features of the neurogenic process in different model systems

Lupo, Giuseppe, Piper, Michael and Zolessi, Flavio R. (2021). Editorial: Context-dependent regulation of neurogenesis: common themes and unique features of the neurogenic process in different model systems. Frontiers in Cell and Developmental Biology, 9 678475, 678475. doi: 10.3389/fcell.2021.678475

Editorial: Context-dependent regulation of neurogenesis: common themes and unique features of the neurogenic process in different model systems

2020

Journal Article

Conserved epigenetic regulatory logic infers genes governing cell identity

Shim, Woo Jun, Sinniah, Enakshi, Xu, Jun, Vitrinel, Burcu, Alexanian, Michael, Andreoletti, Gaia, Shen, Sophie, Sun, Yuliangzi, Balderson, Brad, Boix, Carles, Peng, Guangdun, Jing, Naihe, Wang, Yuliang, Kellis, Manolis, Tam, Patrick P L, Smith, Aaron, Piper, Michael, Christiaen, Lionel, Nguyen, Quan, Bodén, Mikael and Palpant, Nathan J. (2020). Conserved epigenetic regulatory logic infers genes governing cell identity. Cell Systems, 11 (6), 625-639.e13. doi: 10.1016/j.cels.2020.11.001

Conserved epigenetic regulatory logic infers genes governing cell identity

2020

Journal Article

Missense variant contribution to USP9X-female syndrome

Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun ... Gecz, Jozef (2020). Missense variant contribution to USP9X-female syndrome. npj Genomic Medicine, 5 (1) 53, 1-11. doi: 10.1038/s41525-020-00162-9

Missense variant contribution to USP9X-female syndrome