2024 Journal Article Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis developmentDraskau, Monica K., Strand, Ida W., Davila, Raul, Ballegaard, Anne-Sofie R., Pedersen, Mikael, Ramhøj, Louise, Rising, Sofie, Tran, Kieu-mi, Axelstad, Marta, Bowles, Josephine, Rosenmai, Anna K., Spiller, Cassy M. and Svingen, Terje (2024). Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis development. Environmental Pollution, 363 125117, 125117. doi: 10.1016/j.envpol.2024.125117 |
2023 Journal Article Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsAyers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R. ... Sinclair, Andrew H. (2023). Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Nature Communications, 14 (1) 3403, 1-21. doi: 10.1038/s41467-023-39040-0 |
2023 Journal Article Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonizationBurnet, Guillaume, Feng, Chun‐Wei Allen, Cheung, Ka Man Fiona, Bowles, Josephine and Spiller, Cassy M. (2023). Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonization. genesis, 61 (1-2) e23511, e23511. doi: 10.1002/dvg.23511 |
2022 Journal Article Instructing mouse germ cells to adopt a female fateSpiller, Cassy and Bowles, Josephine (2022). Instructing mouse germ cells to adopt a female fate. Sexual Development, 16 (5-6), 1-13. doi: 10.1159/000523763 |
2022 Journal Article Deletion of NFIX results in defective progression through meiosis within the mouse testisDavila, 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 |
2022 Journal Article Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiencyNakagawa, Ryuichi, Takasawa, Kei, Gau, Maki, Tsuji-Hosokawa, Atsumi, Kawaji, Hideya, Murakawa, Yasuhiro, Takada, Shuji, Mikami, Masashi, Narumi, Satoshi, Fukami, Maki, Sreenivasan, Rajini, Maruyama, Tetsuo, Tucker, Elena J., Zhao, Liang, Bowles, Josephine, Sinclair, Andrew, Koopman, Peter, Hayashizaki, Yoshihide, Morio, Tomohiro and Kashimada, Kenichi (2022). Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Human Molecular Genetics, 31 (13), 2223-2235. doi: 10.1093/hmg/ddac023 |
2022 Journal Article AOP Key Event Relationship report: Linking decreased retinoic acid levels with disrupted meiosis in developing oocytesKam Draskau, Monica, Ravn Ballegaard, Anne-Sofie, Ramhøj, Louise, Bowles, Josephine, Svingen, Terje and Spiller, Cassy M. (2022). AOP Key Event Relationship report: Linking decreased retinoic acid levels with disrupted meiosis in developing oocytes. Current Research in Toxicology, 3 100069, 1-8. doi: 10.1016/j.crtox.2022.100069 |
2021 Journal Article WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesisHo, Uda Y., Feng, Chun-Wei Allen, Yeap, Yvonne Y., Bain, Amanda L., Wei, Zhe, Shohayeb, Belal, Reichelt, Melissa E., Homer, Hayden, Khanna, Kum Kum, Bowles, Josephine and Ng, Dominic C. H. (2021). WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis. Communications Biology, 4 (1) 645, 1-14. doi: 10.1038/s42003-021-02171-5 |
2021 Journal Article Identification of regulatory elements required for Stra8 expression, in fetal ovarian germ cells of the mouseFeng, Chun-Wei, Burnet, Guillaume, Spiller, Cassy M., Cheung, Fiona Ka Man, Chawengsaksophak, Kallayanee, Koopman, Peter and Bowles, Josephine (2021). Identification of regulatory elements required for Stra8 expression, in fetal ovarian germ cells of the mouse. Development, 148 (5) dev194977, 1-13. doi: 10.1242/dev.194977 |
2020 Journal Article CRIPTO and miR-371a-3p are serum biomarkers of testicular germ cell tumors and are detected in seminal plasma from azoospermic malesSpiller, Cassy M., Lobo, João, Boellaard, Willem P. A., Gillis, Ad J. M., Bowles, Josephine and Looijenga, Leendert H. J. (2020). CRIPTO and miR-371a-3p are serum biomarkers of testicular germ cell tumors and are detected in seminal plasma from azoospermic males. Cancers, 12 (3) 760, 760. doi: 10.3390/cancers12030760 |
2020 Journal Article Developmental biology meets toxicology: contributing reproductive mechanisms to build adverse outcome pathwaysDraskau, Monica Kam, Spiller, Cassy M., Boberg, Julie, Bowles, Josephine and Svingen, Terje (2020). Developmental biology meets toxicology: contributing reproductive mechanisms to build adverse outcome pathways. Molecular Human Reproduction, 26 (2), 111-116. doi: 10.1093/molehr/gaaa001 |
2019 Journal Article A simple, web-based repository for the management, access and analysis of micrographic imagesDavila, Raul Ayala, Harkins, Danyon, Currey, Laura, Fraser, James, Bowles, Josephine and Piper, Michael (2019). A simple, web-based repository for the management, access and analysis of micrographic images. Journal of Molecular Histology, 50 (6), 573-580. doi: 10.1007/s10735-019-09850-y |
2019 Journal Article Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter and Sinclair, Andrew (2019). Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications, 10 (1) 3351, 3351. doi: 10.1038/s41467-019-11310-w |
2019 Journal Article Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signalingNomura, Risa, Kashimada, Kenichi, Suzuki, Hitomi, Zhao, Liang, Tsuji-Hosokawa, Atsumi, Yagita, Hideo, Takagi, Masatoshi, Kanai, Yoshiakira, Bowles, Josephine, Koopman, Peter, Kanai-Azuma, Masami and Morio, Tomohiro (2019). Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. Journal of Cell Science, 132 (8) 223768, jcs223768. doi: 10.1242/jcs.223768 |
2019 Journal Article Gene editing of the multi-copy H2A.B gene and its importance for fertility 06 Biological Sciences 0604 Genetics Jin-Soo KimAnuar, Nur Diana, Kurscheid, Sebastian, Field, Matt, Zhang, Lei, Rebar, Edward, Gregory, Philip, Buchou, Thierry, Bowles, Josephine, Koopman, Peter, Tremethick, David J. and Soboleva, Tatiana A. (2019). Gene editing of the multi-copy H2A.B gene and its importance for fertility 06 Biological Sciences 0604 Genetics Jin-Soo Kim. Genome Biology, 20 (1) 23, 23. doi: 10.1186/s13059-019-1633-3 |
2018 Journal Article Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacky, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter and Sinclair, Andrew (2018). Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications, 9 (1) 5319, 5319. doi: 10.1038/s41467-018-07784-9 |
2018 Journal Article Retinoic acid antagonizes testis development in miceBowles, Josephine, Feng, Chun-Wei, Ineson, Jessica, Miles, Kim, Spiller, Cassy M., Harley, Vincent R., Sinclair, Andrew H. and Koopman, Peter (2018). Retinoic acid antagonizes testis development in mice. Cell Reports, 24 (5), 1330-1341. doi: 10.1016/j.celrep.2018.06.111 |
2018 Journal Article Prolonged prenatal hypoxia selectively disrupts collecting duct patterning and postnatal function in male mouse offspringWalton, Sarah L., Singh, Reetu R., Little, Melissa H., Bowles, Josephine, Li, Joan and Moritz, Karen M. (2018). Prolonged prenatal hypoxia selectively disrupts collecting duct patterning and postnatal function in male mouse offspring. The Journal of Physiology, 596 (23), 5873-5889. doi: 10.1113/JP275918 |
2018 Journal Article Cep55 overexpression causes male-specific sterility in mice by suppressing Foxo1 nuclear retention through sustained activation of PI3K/Akt signalingSinha, Debottam, Kalimutho, Murugan, Bowles, Josephine, Chan, Ai-Leen, Merriner, D. Jo, Bain, Amanda L., Simmons, Jacinta L., Freire, Raimundo, Lopez, J Alejandro, Hobbs, Robin M., O'Bryan, Moira K. and Khanna, Kum Kum (2018). Cep55 overexpression causes male-specific sterility in mice by suppressing Foxo1 nuclear retention through sustained activation of PI3K/Akt signaling. The FASEB Journal, 32 (9), 4984-4999. doi: 10.1096/fj.201701096RR |
2017 Journal Article SOX30 is required for male fertility in miceFeng, Chun-Wei Allen, Spiller, Cassy, Merriner, Donna J., O'Bryan, Moira K., Bowles, Josephine and Koopman, Peter (2017). SOX30 is required for male fertility in mice. Scientific Reports, 7 (1) 17619, 1-12. doi: 10.1038/s41598-017-17854-5 |