未登录Pharmacological targeting of the transcription factor SOX18 delays breast cancer in mice (vol 6, e21221, 2017)
Overman, Jeroen; Fontaine, Frank; Moustaqil, Mehdi; Mittal, Deepak; Sierecki, Emma; Sacilotto, Natalia; Zuegg, Johannes; Robertson, Avril A. B.; Holmes, Kelly; Salim, Angela A.; Mamidyala, Sreeman; Butler, Mark S.; Robinson, Ashley S.; Lesieur, Emmanuelle; Johnston, Wayne; Alexandrov, Kirill; Black, Brian L.; Hogan, Benjamin M.; De Val, Sarah; Capon, Robert J.; Carroll, Jason S.; Bailey, Timothy L.; Koopman, Peter; Jauch, Ralf; Cooper, Matthew A.; Gambin, Yann; Francois, Mathias
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收藏Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (vol 14, 3403, 2023)作者更正: SART3中的变体引起以睾丸发育失败和神经元缺陷为特征的剪接病 (第14卷,3403卷,2023)
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; Jorgensen, 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.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H.
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收藏Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsSART3的变异引起以睾丸发育失败和神经元缺陷为特征的剪接病
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; Jorgensen, 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.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; MacElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H.
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收藏Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Kuster-Hauser syndrome
Thomson, Ella; Tran, Minh; Robevska, Gorjana; Ayers, Katie; van der Bergen, Jocelyn; Bhaskaran, Prarthna Gopalakrishnan; Haan, Eric; Cereghini, Silvia; Vash-Margita, Alla; Margetts, Miranda; Hensley, Alison; Nguyen, Quan; Sinclair, Andrew; Koopman, Peter; Pelosi, Emanuele
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收藏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; Kashimada, Kenichi
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收藏Generation and mutational analysis of a transgenic mouse model of human SRY
Thomson, Ella; Zhao, Liang; Chen, Yen-Shan; Longmuss, Enya; Ng, Ee Ting; Sreenivasan, Rajini; Croft, Brittany; Song, Xin; Sinclair, Andrew; Weiss, Michael; Koopman, Peter; Pelosi, Emanuele
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收藏A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity
McCann, Alex J.; Lou, Jieqiong; Moustaqil, Mehdi; Graus, Matthew S.; Blum, Ailisa; Fontaine, Frank; Liu, Hui; Luu, Winnie; Rudolffi-Soto, Paulina; Koopman, Peter; Sierecki, Emma; Gambin, Yann; Meunier, Frederic A.; Liu, Zhe; Hinde, Elizabeth; Francois, Mathias
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收藏Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes
Bird, Anthony D.; Croft, Brittany M.; Harada, Masayo; Tang, Lingyun; Zhao, Liang; Ming, Zhenhua; Bagheri-Fam, Stefan; Koopman, Peter; Wang, Zhugang; Akita, Keiichi; Harley, Vincent R.
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收藏Endocardium differentiation through Sox17 expression in endocardium precursor cells regulates heart development in mice
Saba, Rie; Kitajima, Keiko; Rainbow, Lucille; Engert, Silvia; Uemura, Mami; Ishida, Hidekazu; Kokkinopoulos, Ioannis; Shintani, Yasunori; Miyagawa, Shigeru; Kanai, Yoshiakira; Kanai-Azuma, Masami; Koopman, Peter; Meno, Chikara; Kenny, John; Lickert, Heiko; Saga, Yumiko; Suzuki, Ken; Sawa, Yoshiki; Yashiro, Kenta
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收藏Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 (vol 9, 5319, 2018)
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; Dung Chi Vu; Hutson, John; Harley, Vincent; Ayers, Katie; Koopman, Peter; Sinclair, Andrew
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收藏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; Morio, Tomohiro
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收藏Gene editing of the multi-copy H2A.B gene and its importance for fertility
Anuar, Nur Diana; Kurscheid, Sebastian; Field, Matt; Zhang, Lei; Rebar, Edward; Gregory, Philip; Buchou, Thierry; Bowles, Josephine; Koopman, Peter; Tremethick, David J.; Soboleva, Tatiana A.
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收藏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; Dung Chi Vu; Hutson, John; Harley, Vincent; Ayers, Katie; Koopman, Peter; Sinclair, Andrew
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收藏Transcriptomic analysis of mRNA expression and alternative splicing during mouse sex determination
Zhao, Liang; Wang, Chenwei; Lehman, Melanie L.; He, Mingyu; An, Jiyuan; Svingen, Terje; Spiller, Gassy M.; Ng, Ee Ting; Nelson, Colleen C.; Koopman, Peter
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收藏Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer性发育障碍患者的突变NR5A1/SF-1显示SOX9 TESCO增强子的激活有缺陷
Sreenivasan, Rajini; Ludbrook, Louisa; Fisher, Brett; Declosmenil, Faustine; Knower, Kevin C.; Croft, Brittany; Bird, Anthony D.; Ryan, Janelle; Bashamboo, Anu; Sinclair, Andrew H.; Koopman, Peter; McElreavey, Ken; Poulat, Francis; Harley, Vincent R.
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