日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids

人类干细胞衍生睾丸样类器官中出现多种睾丸细胞谱系

Pachernegg, Svenja; Robevska, Gorjana; Ferreira, Lucas G A; Charitakis, Natalie; Gu, Jinchao; Terhag, Jan; Martin, Eliza; Bienroth, Denis; van den Bergen, Jocelyn; Wilson, Sean B; Rossello, Fernando J; Rollo, Ben; Little, Melissa H; Ramialison, Mirana; Sinclair, Andrew H; Ayers, Katie L

RNA exosome component EXOSC10 variants identified in a patient with premature ovarian insufficiency†

在一名患有卵巢早衰的患者中发现了RNA外泌体成分EXOSC10变异体†

Kline, Brianna L; Moran, Izaac L; Cai, Xuebi; Siddall, Nicole A; Wijaya, Fernando; Dulon, Jerome; Bakhshalizadeh, Shabnam; Bell, Katrina M; Jaillard, Sylvie; Robevska, Gorjana; van den Bergen, Jocelyn A; Touraine, Philippe; Ayers, Katie L; Hime, Gary R; Sinclair, Andrew H; Tucker, Elena J

Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency†

人类隐性DIS3变异体在卵巢早衰中的功能特征†

Kline, Brianna L; Siddall, Nicole A; Wijaya, Fernando; Stuart, Catherine J; Orlando, Luisa; Bakhshalizadeh, Shabnam; Afkhami, Fateme; Bell, Katrina M; Jaillard, Sylvie; Robevska, Gorjana; van den Bergen, Jocelyn A; Shahbazi, Shirin; van Hoof, Ambro; Ayers, Katie L; Hime, Gary R; Sinclair, Andrew H; Tucker, Elena J

COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors

COUP-TFII 调节早期双潜能性腺信号传导和对卵巢祖细胞的承诺

Lucas G A Ferreira, Marina M L Kizys, Gabriel A C Gama, Svenja Pachernegg, Gorjana Robevska, Andrew H Sinclair, Katie L Ayers, Magnus R Dias-da-Silva

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

人类纯合 HELQ 错义变异不会导致小鼠模型中卵巢功能不全

Shabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Mohammad Asghari-Jafarabadi, Andrew J Kueh, Philippe Touraine, Anna Lokchine, Sylvie Jaillard, Katie L Ayers, Dagmar Wilhelm, Andrew H Sinclair, Elena J Tucker

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

作者更正:SART3基因变异会导致剪接体病,其特征是睾丸发育不全和神经元缺陷。

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; 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

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

SART3 变异会导致剪接体病,其特征是睾丸发育失败和神经元缺陷

Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Nicole A Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B Schittenhelm, Cheng Huang, Gorjana Robevska, 

Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome

功能基因组学分析表明,HNF1B功能丧失是Mayer-Rokitansky-Küster-Hauser综合征的病因。

Ella Thomson ,Minh Tran ,Gorjana Robevska ,Katie Ayers ,Jocelyn van der Bergen ,Prarthna Gopalakrishnan Bhaskaran ,Eric Haan ,Silvia Cereghini ,Alla Vash-Margita ,Miranda Margetts ,Alison Hensley ,Quan Nguyen ,Andrew Sinclair ,Peter Koopman ,Emanuele Pelosi

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

卵巢功能不全的减数分裂基因:HROB 和 REC8 的变异可能是遗传原因

Elena J Tucker, Katrina M Bell, Gorjana Robevska, Jocelyn van den Bergen, Katie L Ayers, Nurin Listyasari, Sultana Mh Faradz, Jérôme Dulon, Shabnam Bakhshalizadeh, Rajini Sreenivasan, Benedicte Nouyou, Wilfrid Carre, Linda Akloul, Solène Duros, Mathilde Domin-Bernhard, Marc-Antoine Belaud-Rotureau, 

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

显性 TP63 错义变异导致组成性激活和卵巢功能不全

Elena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, David Gilot, Tiffany Brun, Brianna L Kline, Katrina M Bell, Mathilde Domin-Bernhard, Camille Théard, Philippe Touraine, Gorjana Robevska, Jocelyn van van den Bergen, Katie L Ayers, Andrew H Sinclair, Volker Dötsch, Sylvie Jaillard