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2024

Journal Article

Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis development

Draskau, 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

Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis development

2023

Journal Article

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Ayers, 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

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

2023

Journal Article

Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonization

Burnet, 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

Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonization

2022

Journal Article

Instructing mouse germ cells to adopt a female fate

Spiller, 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

Instructing mouse germ cells to adopt a female fate

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

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency

Nakagawa, 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

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency

2022

Journal Article

AOP Key Event Relationship report: Linking decreased retinoic acid levels with disrupted meiosis in developing oocytes

Kam 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

AOP Key Event Relationship report: Linking decreased retinoic acid levels with disrupted meiosis in developing oocytes

2021

Journal Article

WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis

Ho, 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

WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis

2021

Journal Article

Identification of regulatory elements required for Stra8 expression, in fetal ovarian germ cells of the mouse

Feng, 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

Identification of regulatory elements required for Stra8 expression, in fetal ovarian germ cells of the mouse

2020

Journal Article

CRIPTO and miR-371a-3p are serum biomarkers of testicular germ cell tumors and are detected in seminal plasma from azoospermic males

Spiller, 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

CRIPTO and miR-371a-3p are serum biomarkers of testicular germ cell tumors and are detected in seminal plasma from azoospermic males

2020

Journal Article

Developmental biology meets toxicology: contributing reproductive mechanisms to build adverse outcome pathways

Draskau, 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

Developmental biology meets toxicology: contributing reproductive mechanisms to build adverse outcome pathways

2019

Journal Article

A simple, web-based repository for the management, access and analysis of micrographic images

Davila, 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

A simple, web-based repository for the management, access and analysis of micrographic images

2019

Journal Article

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Croft, 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

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

2019

Journal Article

Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling

Nomura, 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

Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling

2019

Journal Article

Gene editing of the multi-copy H2A.B gene and its importance for fertility 06 Biological Sciences 0604 Genetics Jin-Soo Kim

Anuar, 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

Gene editing of the multi-copy H2A.B gene and its importance for fertility 06 Biological Sciences 0604 Genetics Jin-Soo Kim

2018

Journal Article

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Croft, 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

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

2018

Journal Article

Retinoic acid antagonizes testis development in mice

Bowles, 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

Retinoic acid antagonizes testis development in mice

2018

Journal Article

Prolonged prenatal hypoxia selectively disrupts collecting duct patterning and postnatal function in male mouse offspring

Walton, 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

Prolonged prenatal hypoxia selectively disrupts collecting duct patterning and postnatal function in male mouse offspring

2018

Journal Article

Cep55 overexpression causes male-specific sterility in mice by suppressing Foxo1 nuclear retention through sustained activation of PI3K/Akt signaling

Sinha, 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

Cep55 overexpression causes male-specific sterility in mice by suppressing Foxo1 nuclear retention through sustained activation of PI3K/Akt signaling

2017

Journal Article

SOX30 is required for male fertility in mice

Feng, 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

SOX30 is required for male fertility in mice