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Items: 1 to 20 of 31

1.
Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
Sehrish Javed, Ya-Ting Chang, Yoobin Cho, Yu-Ju Lee, Hao-Cheng Chang, Minza Haque, Yu Cheng Lin, Wei-Hsiang Huang
eLife. 2023; 12: RP90333. Published online 2023 Nov 13. doi: 10.7554/eLife.90333
PMCID:
PMC10642964
AbstractArticlePDF–2.7M
2.
rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
Hao-Cheng Chang, Yu-Ju Lee, Sehrish Javed, Minza Haque, Ya-Ting Chang, Yu Cheng Lin, Cameron Oram, Wei-Hsiang Huang
J Biol Chem. 2023 Jan; 299(1): 102728. Published online 2022 Nov 19. doi: 10.1016/j.jbc.2022.102728
PMCID:
PMC9762195
AbstractArticlePDF–1.8M
3.
Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
Ya-Ting Chang, Max Kowalczyk, P. Michelle Fogerson, Yu-Ju Lee, Minza Haque, Eliza L. Adams, David C. Wang, Laura A. DeNardo, Marc Tessier-Lavigne, John R. Huguenard, Liqun Luo, Wei-Hsiang Huang
Proc Natl Acad Sci U S A. 2022 Oct 25; 119(43): e2210122119. Published online 2022 Oct 18. doi: 10.1073/pnas.2210122119
Correction in:
Proc Natl Acad Sci U S A. 2022 Dec 27; 119(52): e2219265119.
PMCID:
PMC9618093
AbstractArticlePDF–2.4M
4.
Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders
Jian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, Kaifang Pang, Amy E. Pohodich, Joanna Lopez, Yingyao Shao, Juan A. Oses-Prieto, Lifang Li, Wonho Kim, Mark A. Durham, Sameer S. Bajikar, Donna J. Palmer, Philip Ng, Michelle L. Thompson, E. Martina Bebin, Amelie J. Müller, Alma Kuechler, Antje Kampmeier, Tobias B. Haack, Alma L. Burlingame, Zhandong Liu, Matthew N. Rasband, Huda Y. Zoghbi
Proc Natl Acad Sci U S A. 2022 Jan 25; 119(4): e2119078119. Published online 2022 Jan 24. doi: 10.1073/pnas.2119078119
PMCID:
PMC8794850
AbstractArticlePDF–2.4M
5.
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome
Brooke Burns, Kristie Schmidt, Stephen R. Williams, Sun Kim, Santhosh Girirajan, Sarah H. Elsea
Hum Mol Genet. 2010 Oct 15; 19(20): 4026–4042. Published online 2010 Jul 27. doi: 10.1093/hmg/ddq317
PMCID:
PMC7714048
AbstractArticlePDF–625K
6.
Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalenceof Germline Recombination and Influencing Factors
Lin Luo, Mateusz C. Ambrozkiewicz, Fritz Benseler, Cui Chen, Emilie Dumontier, Susanne Falkner, Elisabetta Furlanis, Andrea M. Gomez, Naosuke Hoshina, Wei-Hsiang Huang, Mary Anne Hutchison, Yu Itoh-Maruoka, Laura A. Lavery, Wei Li, Tomohiko Maruo, Junko Motohashi, Emily Ling-Lin Pai, Kenneth A. Pelkey, Ariane Pereira, Thomas Philips, Jennifer L. Sinclair, Jeff A. Stogsdill, Lisa Traunmüller, Jiexin Wang, Joke Wortel, Wenjia You, Nashat Abumaria, Kevin T. Beier, Nils Brose, Harold A. Burgess, Constance L. Cepko, Jean-François Cloutier, Cagla Eroglu, Sandra Goebbels, Pascal S. Kaeser, Jeremy N. Kay, Wei Lu, Liqun Luo, Kenji Mandai, Chris J. McBain, Klaus-Armin Nave, Marco A.M. Prado, Vania F. Prado, Jeffrey Rothstein, John L.R. Rubenstein, Gesine Saher, Kenji Sakimura, Joshua R. Sanes, Peter Scheiffele, Yoshimi Takai, Hisashi Umemori, Matthijs Verhage, Michisuke Yuzaki, Huda Yahya Zoghbi, Hiroshi Kawabe, Ann Marie Craig
Neuron. Author manuscript; available in PMC 2021 Apr 8.
Published in final edited form as: Neuron. 2020 Apr 8; 106(1): 37–65.e5. Published online 2020 Feb 5. doi: 10.1016/j.neuron.2020.01.008
PMCID:
PMC7377387
AbstractArticlePDF–2.3M
7.
A novel 5′-hydroxyl dinucleotide hydrolase activity for the DXO/Rai1 family of enzymes
Selom K Doamekpor, Agnieszka Gozdek, Aleksandra Kwasnik, Joanna Kufel, Liang Tong
Nucleic Acids Res. 2020 Jan 10; 48(1): 349–358. Published online 2019 Nov 28. doi: 10.1093/nar/gkz1107
Correction in:
Nucleic Acids Res. 2021 Jul 21; 49(13): 7806.
PMCID:
PMC6943137
AbstractArticlePDF–4.2M
8.
Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
Wei-Hsiang Huang, David C. Wang, William E. Allen, Matthew Klope, Hailan Hu, Mehrdad Shamloo, Liqun Luo
Proc Natl Acad Sci U S A. 2018 Oct 16; 115(42): 10744–10749. Published online 2018 Oct 1. doi: 10.1073/pnas.1806796115
PMCID:
PMC6196530
AbstractArticlePDF–984K
9.
Spatio-temporal profile of postynaptic interactomes integrates components of complex brain disorders
Jing Li, Wangshu Zhang, Hui Yang, Daniel P. Howrigan, Brent Wilkinson, Tade Souaiaia, Oleg V. Evgrafov, Giulio Genovese, Veronica A. Clementel, Jennifer C. Tudor, Ted Abel, James A. Knowles, Benjamin M. Neale, Kai Wang, Fengzhu Sun, Marcelo P. Coba
Nat Neurosci. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Nat Neurosci. 2017 Aug; 20(8): 1150–1161. Published online 2017 Jun 26. doi: 10.1038/nn.4594
PMCID:
PMC5645082
AbstractArticlePDF–2.3M
10.
Rai1 frees mice from the repression of active wake behaviors by light
Shanaz Diessler, Corinne Kostic, Yvan Arsenijevic, Aki Kawasaki, Paul Franken
eLife. 2017; 6: e23292. Published online 2017 May 26. doi: 10.7554/eLife.23292
PMCID:
PMC5464769
AbstractArticlePDF–8.7M
11.
Molecular and Neural Functions of Rai1, The Causal Gene for Smith-Magenis Syndrome
Wei-Hsiang Huang, Casey J. Guenthner, Jin Xu, Tiffany Nguyen, Lindsay A. Schwarz, Alex W. Wilkinson, Or Gozani, Howard Y. Chang, Mehrdad Shamloo, Liqun Luo
Neuron. Author manuscript; available in PMC 2017 Oct 19.
Published in final edited form as: Neuron. 2016 Oct 19; 92(2): 392–406. Published online 2016 Sep 29. doi: 10.1016/j.neuron.2016.09.019
PMCID:
PMC5098476
AbstractArticlePDF–3.1M
12.
The LMO2 oncogene regulates DNA replication in hematopoietic cells
Marie-Claude Sincennes, Magali Humbert, Benoît Grondin, Véronique Lisi, Diogo F. T. Veiga, André Haman, Christophe Cazaux, Nazar Mashtalir, EL Bachir Affar, Alain Verreault, Trang Hoang
Proc Natl Acad Sci U S A. 2016 Feb 2; 113(5): 1393–1398. Published online 2016 Jan 13. doi: 10.1073/pnas.1515071113
PMCID:
PMC4747768
AbstractArticlePDF–1.0M
13.
Viral Pseudo Enzymes Activate RIG-I via Deamidation to Evade Cytokine Production
Shanping He, Jun Zhao, Shanshan Song, Xiaojing He, Arlet Minassian, Yu Zhou, Junjie Zhang, Kevin Brulois, Yuqi Wang, Jackson Cabo, Ebrahim Zandi, Chengyu Liang, Jae U Jung, Xuewu Zhang, Pinghui Feng
Mol Cell. Author manuscript; available in PMC 2016 Apr 2.
Published in final edited form as: Mol Cell. 2015 Apr 2; 58(1): 134–146. Published online 2015 Mar 5. doi: 10.1016/j.molcel.2015.01.036
PMCID:
PMC4385502
AbstractArticlePDF–930K
14.
A high resolution spatiotemporal atlas of gene expression of the developing mouse brain
Carol L. Thompson, Lydia Ng, Vilas Menon, Salvador Martinez, Chang-Kyu Lee, Katie Glattfelder, Susan M. Sunkin, Alex Henry, Christopher Lau, Chinh Dang, Raquel Garcia-Lopez, Almudena Martinez-Ferre, Ana Pombero, John L.R. Rubenstein, Wayne B. Wakeman, John Hohmann, Nick Dee, Andrew J. Sodt, Rob Young, Kimberly Smith, Thuc-Nghi Nguyen, Jolene Kidney, Leonard Kuan, Andreas Jeromin, Ajamete Kaykas, Jeremy Miller, Damon Page, Geri Orta, Amy Bernard, Zackery Riley, Simon Smith, Paul Wohnoutka, Mike Hawrylycz, Luis Puelles, Allan R. Jones
Neuron. Author manuscript; available in PMC 2015 Jul 16.
Published in final edited form as: Neuron. 2014 Jul 16; 83(2): 309–323. Published online 2014 Jun 19. doi: 10.1016/j.neuron.2014.05.033
PMCID:
PMC4319559
AbstractArticlePDF–3.0M
15.
Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1
Joseph T. Alaimo, Natalie H. Hahn, Sureni V. Mullegama, Sarah H. Elsea
PLoS One. 2014; 9(8): e105077. Published online 2014 Aug 15. doi: 10.1371/journal.pone.0105077
Correction in:
PLoS One. 2014; 9(11): e114092.
PMCID:
PMC4134272
AbstractArticlePDF–673K
16.
Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1
Melanie Lacaria, Wenli Gu, James R Lupski
Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 8.
Published in final edited form as: Am J Med Genet A. 2013 Jul; 0(7): 1561–1568. Published online 2013 May 23. doi: 10.1002/ajmg.a.35941
PMCID:
PMC4086898
AbstractArticlePDF–280K
17.
Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity
Stephen R. Williams, Deborah Zies, Sureni V. Mullegama, Michael S. Grotewiel, Sarah H. Elsea
Am J Hum Genet. 2012 Jun 8; 90(6): 941–949. doi: 10.1016/j.ajhg.2012.04.013
PMCID:
PMC3370274
AbstractArticlePDF–498K
18.
A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men
Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan, James R. Lupski, Wenli Gu
PLoS Genet. 2012 May; 8(5): e1002713. Published online 2012 May 24. doi: 10.1371/journal.pgen.1002713
PMCID:
PMC3359973
AbstractArticlePDF–2.0M
19.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
20.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M

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