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

Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders

为自闭症及相关神经发育障碍的跨诊断亚组分配可靶向分子通路

Ellegood, Jacob; Beauchamp, Antoine; Yee, Yohan; Devenyi, Gabe; Ziolkowski, Justine; Qiu, Lily; Askalan, Rand; Ayub, Muhammad; Suetterlin, Philipp; Donovan, Alex; Basson, M Albert; Quesnel, Katherine M; Berube, Nathalie G; Woo, Taeseon; Beversdorf, David; Bjornsson, Hans; Blakely, Randy; Crawley, Jacqueline; Crosbie, Jennifer; Orr, Brian O; Davis, Graeme W; Genestine, Matthew; DiCicco-Bloom, Emanuel; Egan, Sean; Fink, Kyle D; Asbury, Sarah; Lai, Jonathan; Rilett, Kelly; Foster, Jane A; Vincent, John B; Frankland, Paul; Georgiades, Stelios; Penagarikano, Olga; Geschwind, Daniel; Giger, Roman J; Markx, Sander; Gogos, Joseph; Golzio, Christelle; Pagani, Marco; Gozzi, Alessandro; Pacey, Laura K; Hampson, David; Huang, Tzyy-Nan; Yen, Tzu-Li; Hsueh, Yi-Ping; Iaboni, Alana; Amar, Megha; Iakoucheva, Lilia M; Jones, Jessica K; Kelly, Elizabeth; Kieffer, Brigette; Bae, Mihyun; Jung, Hwajin; Kim, Hyosang; Park, Haram; Roh, Junye Daniel; Kim, Eunjoon; Konopka, Genevieve; Laliberte, Christine; Lefebvre, Julie L; Eagleson, Kathie; Levitt, Pat; Bach, Aurea Martins; Cunningham, Thomas J; Fisher, Elizabeth; Miller, Karla; Mills, Alea; Muotri, Alyson; Nicolson, Rob; Noakes, Leigh Spencer; Nieman, Brian J; Canales, Cesar P; Nord, Alex S; Nutter, Lauryl Mj; Tam, Elaine; Osborne, Lucy R; Clipperton-Allen, Amy; Page, Damon; Babineau, Brooke; Palmer, Theo D; Yan, Keqin; Picketts, David; Xia, Qiangqiang; Powell, Craig M; Raznahan, Armin; Robins, Diane M; Rumbaugh, Gavin; Sengar, Ameet S; Salter, Michael William; Schachar, Russell James; D'Abate, Lia; Bradley, Clarissa A; Scherer, Stephen W; Copping, Nycole W; Petkova, Stela P; Silverman, Jill L; Singh, Karun Kar; Kim, Nam-Shik; Yoon, Ki-Jun Kar; Ming, Guo-Li; Song, Hongjun; Spring, Shoshana; Nakatani, Jin; Nakai, Nobuhiro; Nomura, J; Takumi, Toru; Taylor, Margot; Tsai, Peter; Bruce, Matthew; Jones, Karen L; Van de Water, Judy; Van Eede, Matthijs C; Kerr, Travis M; Muller, Christopher L; VanderWeele, Jeremy Veenstra; Vandewouw, Marlee; Weksberg, Rosanna; Wevrick, Rachel; Belinson, Haim; Wynshaw-Boris, Anthony; Zarbalis, Konstantinos; Trost, Brett; Mars, Rogier B; Chakravarty, Mallar; Kushki, Azadek; Anagnostou, Evdokia; Lerch, Jason P

Hypothalamic AAV-BDNF gene therapy improves metabolic function and behavior in the Magel2-null mouse model of Prader-Willi syndrome

下丘脑 AAV-BDNF 基因治疗可改善普拉德-威利综合征 Magel2 基因敲除小鼠模型的代谢功能和行为

Nicholas J Queen, Xunchang Zou, Jacqueline M Anderson, Wei Huang, Bhavya Appana, Suraj Komatineni, Rachel Wevrick, Lei Cao

The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism

Schaaf-Yang 综合征蛋白 MAGEL2 的 N 端结构域可能在 RNA 代谢中发挥作用

Matthea R Sanderson, Richard P Fahlman, Rachel Wevrick

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

小脑-前额皮质回路对自闭症相关行为的调节

Kelly, Elyza; Meng, Fantao; Fujita, Hirofumi; Morgado, Felipe; Kazemi, Yasaman; Rice, Laura C; Ren, Chongyu; Escamilla, Christine Ochoa; Gibson, Jennifer M; Sajadi, Sanaz; Pendry, Robert J; Tan, Tommy; Ellegood, Jacob; Basson, M Albert; Blakely, Randy D; Dindot, Scott V; Golzio, Christelle; Hahn, Maureen K; Katsanis, Nicholas; Robins, Diane M; Silverman, Jill L; Singh, Karun K; Wevrick, Rachel; Taylor, Margot J; Hammill, Christopher; Anagnostou, Evdokia; Pfeiffer, Brad E; Stoodley, Catherine J; Lerch, Jason P; du Lac, Sascha; Tsai, Peter T

A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1

MAGEL2-去泛素化酶复合物调节昼夜节律蛋白 CRY1 的泛素化

K Vanessa Carias, Mercedes Zoeteman, Abigail Seewald, Matthea R Sanderson, Jocelyn M Bischof, Rachel Wevrick

Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis

普拉德-威利综合征转化动物模型临床前试验:概述与差距分析

Carias, K Vanessa; Wevrick, Rachel

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

ROHHAD 与普拉德-威利综合征 (PWS):临床和遗传学比较

Barclay, Sarah F; Rand, Casey M; Nguyen, Lisa; Wilson, Richard J A; Wevrick, Rachel; Gibson, William T; Bech-Hansen, N Torben; Weese-Mayer, Debra E

The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways

普拉德-威利综合征蛋白 MAGEL2 和 necdin 通过泛素化途径调节瘦素受体细胞表面丰度

Tishani Methsala Wijesuriya, Leentje De Ceuninck, Delphine Masschaele, Matthea R Sanderson, Karin Vanessa Carias, Jan Tavernier, Rachel Wevrick

Magel2-null mice are hyper-responsive to setmelanotide, a melanocortin 4 receptor agonist

Magel2基因敲除小鼠对黑皮质素4受体激动剂setmelanotide表现出过度反应。

Bischof, Jocelyn M; Van Der Ploeg, Lex H T; Colmers, William F; Wevrick, Rachel

Targeting the endocannabinoid/CB1 receptor system for treating obesity in Prader-Willi syndrome

靶向内源性大麻素/CB1受体系统治疗普拉德-威利综合征肥胖症

Knani, Ibrahim; Earley, Brian J; Udi, Shiran; Nemirovski, Alina; Hadar, Rivka; Gammal, Asaad; Cinar, Resat; Hirsch, Harry J; Pollak, Yehuda; Gross, Itai; Eldar-Geva, Talia; Reyes-Capo, Daniela P; Han, Joan C; Haqq, Andrea M; Gross-Tsur, Varda; Wevrick, Rachel; Tam, Joseph