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

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Health Navigator intervention to address the unmet social needs of populations living with cancer attending outpatient treatment at a major metropolitan hospital in Australia: protocol for a mixed-methods feasibility trial

一项旨在解决澳大利亚某大型都市医院门诊癌症患者未满足的社会需求的健康导航员干预措施:混合方法可行性试验方案

Neadley, Kate; Smith, Annabel; Martin, Sean; Boyd, Mark; Hocking, Christopher; Shoubridge, Cheryl

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

组蛋白去甲基化酶 KDM5C 是 SAHA 敏感的中心枢纽,位于多种神经发育障碍相关转录轴的交汇处

Poeta Loredana, Padula Agnese, Attianese Benedetta, Valentino Mariaelena, Verrillo Lucia, Filosa Stefania, Shoubridge Cheryl, Barra Adriano, Schwartz Charles E, Christensen Jesper, van Bokhoven Hans, Helin Kristian, Lioi Maria Brigida, Collombat Patrick, Gecz Jozef, Altucci Lucia, Di Schiavi Elia, Miano Maria Giuseppina

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.

通过磷酸化调节转录活性:ARX同源域转录因子的一种新机制

Mattiske Tessa, Tan May H, Dearsley Oliver, Cloosterman Desiree, Hii Charles S, Gécz Jozef, Shoubridge Cheryl

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

一种新型IQSEC2变异导致女性轻度智力障碍和癫痫的性腺嵌合现象

Ewans, Lisa J; Field, Michael; Zhu, Ying; Turner, Gillian; Leffler, Melanie; Dinger, Marcel E; Cowley, Mark J; Buckley, Michael F; Scheffer, Ingrid E; Jackson, Matilda R; Roscioli, Tony; Shoubridge, Cheryl

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

胎盘转录组共表达分析揭示了妊娠期间保守的调控程序

Buckberry, Sam; Bianco-Miotto, Tina; Bent, Stephen J; Clifton, Vicki; Shoubridge, Cheryl; Shankar, Kartik; Roberts, Claire T

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

X连锁无脑回畸形伴胼胝体缺失和生殖器异常:一种伴有严重先天性肠道腹泻的进行性多系统综合征

Coman, David; Fullston, Tom; Shoubridge, Cheryl; Leventer, Richard; Wong, Flora; Nazaretian, Simon; Simpson, Ian; Gecz, Josef; McGillivray, George

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

Xp11.2微重复,包括IQSEC2、TSPYL2和KDM5C基因,与神经发育障碍患者相关

Moey, Ching; Hinze, Susan J; Brueton, Louise; Morton, Jenny; McMullan, Dominic J; Kamien, Benjamin; Barnett, Christopher P; Brunetti-Pierri, Nicola; Nicholl, Jillian; Gecz, Jozef; Shoubridge, Cheryl

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

在一名患有X连锁婴儿痉挛症且ARX基因存在蛋白质截短变异的患者中,mRNA翻译重新启动。

Moey, Ching; Topper, Scott; Karn, Mary; Johnson, Amy Knight; Das, Soma; Vidaurre, Jorge; Shoubridge, Cheryl

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

大规模基因表达荟萃分析揭示人类组织特异性、性别偏向的基因表达

Mayne, Benjamin T; Bianco-Miotto, Tina; Buckberry, Sam; Breen, James; Clifton, Vicki; Shoubridge, Cheryl; Roberts, Claire T