PMC Links for GEO Profiles (Select 130438770) - PMC

Select item 112476761.

In vivo validation of late‐onset Alzheimer's disease genetic risk factors

Michael Sasner, Christoph Preuss, Ravi S. Pandey, Asli Uyar, Dylan Garceau, Kevin P. Kotredes, Harriet Williams, Adrian L. Oblak, Peter Bor‐Chian Lin, Bridget Perkins, Disha Soni, Cindy Ingraham, Audrey Lee‐Gosselin, Bruce T. Lamb, Gareth R. Howell, Gregory W. Carter

Alzheimers Dement. 2024 Jul; 20(7): 4970–4984. Published online 2024 Apr 30. doi: 10.1002/alz.13840

PMCID:: PMC11247676

Abstract Article PDF–3.3M

Select item 103930212.

Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability

Xiaobo Jia, Jiemin Zhu, Xiling Bian, Sulin Liu, Sihan Yu, Wenjun Liang, Lifen Jiang, Renbo Mao, Wenxia Zhang, Yi Rao

eLife. 2023; 12: RP86972. Published online 2023 Jul 13. doi: 10.7554/eLife.86972

PMCID:: PMC10393021

Abstract Article PDF–9.5M

Select item 99382163.

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Jr., Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes

Nat Commun. 2023; 14: 825. Published online 2023 Feb 17. doi: 10.1038/s41467-023-36087-x

PMCID:: PMC9938216

Abstract Article PDF–5.3M

Select item 83132394.

Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development

Francesco Bedogni, Robert F. Hevner

Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034

PMCID:: PMC8313239

Abstract Article PDF–1.6M

Select item 67335725.

Tuning of Glutamate, But Not GABA, Release by an Intrasynaptic Vesicle APP Domain Whose Function Can Be Modulated by β- or α-Secretase Cleavage

Wen Yao, Marc D. Tambini, Xinran Liu, Luciano D'Adamio

J Neurosci. 2019 Aug 28; 39(35): 6992–7005. doi: 10.1523/JNEUROSCI.0207-19.2019

PMCID:: PMC6733572

Abstract Article PDF–2.9M

Select item 43755316.

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Zafar Iqbal, Marjolein H. Willemsen, Marie-Amélie Papon, Luciana Musante, Marco Benevento, Hao Hu, Hanka Venselaar, Willemijn M. Wissink-Lindhout, Anneke T. Vulto-van Silfhout, Lisenka E.L.M. Vissers, Arjan P.M. de Brouwer, Sylviane Marouillat, Thomas F. Wienker, Hans Hilger Ropers, Kimia Kahrizi, Nael Nadif Kasri, Hossein Najmabadi, Frédéric Laumonnier, Tjitske Kleefstra, Hans van Bokhoven

Am J Hum Genet. 2015 Mar 5; 96(3): 386–396. doi: 10.1016/j.ajhg.2015.01.010

PMCID:: PMC4375531

Abstract Article PDF–2.1M

Select item 35724107.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 31780598.

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

Abstract Article PDF–1.0M

Select item 30225349.

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

Abstract Article PDF–3.8M

Select item 31099210.

RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer

Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki

Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600

PMCID:: PMC310992

Abstract Article PDF–3.4M

Select item 31098011.

Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes

Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki

Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100

PMCID:: PMC310980

Abstract Article PDF–1.4M

Select item 30876312.

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

Axel Visel, Christina Thaller, Gregor Eichele

Nucleic Acids Res. 2004 Jan 1; 32(Database issue): D552–D556. doi: 10.1093/nar/gkh029

PMCID:: PMC308763

Abstract Article PDF–253K

Select item 13924113.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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