PMC Links for Gene (Select 211612) - PMC

Select item 106634551.

Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence

Stephen F. Pastore, Tahir Muhammad, Cassandra Stan, Paul W. Frankland, Paul A. Hamel, John B. Vincent

Sci Rep. 2023; 13: 20391. Published online 2023 Nov 21. doi: 10.1038/s41598-023-46673-0

PMCID:: PMC10663455

Select item 59841032.

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

D C Ung, G Iacono, H Méziane, E Blanchard, M-A Papon, M Selten, J-R van Rhijn, R Montjean, J Rucci, S Martin, A Fleet, M-C Birling, S Marouillat, R Roepman, M Selloum, A Lux, R-A Thépault, P Hamel, K Mittal, J B Vincent, O Dorseuil, H G Stunnenberg, P Billuart, N Nadif Kasri, Y Hérault, F Laumonnier

Mol Psychiatry. 2018 May; 23(5): 1356–1367. Published online 2017 Apr 18. doi: 10.1038/mp.2017.39

PMCID:: PMC5984103

Abstract Article PDF–1.4M

Select item 48757563.

Thalamic reticular impairment underlies attention deficit in Ptchd1^Y/- mice

Michael F. Wells, Ralf D. Wimmer, L. Ian Schmitt, Guoping Feng, Michael M. Halassa

Nature. Author manuscript; available in PMC 2016 Sep 23.

Published in final edited form as: Nature. 2016 Apr 7; 532(7597): 58–63. Published online 2016 Mar 23. doi: 10.1038/nature17427

PMCID:: PMC4875756

Abstract Article PDF–3.7M

Select item 29877314.

Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability

Abdul Noor, Annabel Whibley, Christian R. Marshall, Peter J. Gianakopoulos, Amelie Piton, Andrew R. Carson, Marija Orlic-Milacic, Anath Lionel, Daisuke Sato, Dalila Pinto, Irene Drmic, Carolyn Noakes, Lili Senman, Xiaoyun Zhang, Rong Mo, Julie Gauthier, Jennifer Crosbie, Alistair T. Pagnamenta, Jeffrey Munson, Annette M. Estes, Andreas Fiebig, Andre Franke, Stefan Schreiber, Alexandre F.R. Stewart, Robert Roberts, Ruth McPherson, Stephen J. Guter, Edwin H. Cook, Jr, Geraldine Dawson, Gerard D. Schellenberg, Agatino Battaglia, Elena Maestrini, Autism Genome Project Consortium, Linda Jeng, Terry Hutchison, Evica Rajcan-Separovic, Albert E. Chudley, Suzanne M.E. Lewis, Xudong Liu, Jeanette Holden, Bridget Fernandez, Lonnie Zwaigenbaum, Susan E. Bryson, Wendy Roberts, Peter Szatmari, Louise Gallagher, Michael R. Stratton, Jozef Gecz, Angela F. Brady, Charles E. Schwartz, Russell J. Schachar, Anthony P. Monaco, Guy A. Rouleau, Chi-chung Hui, F. Lucy Raymond, Stephen W. Scherer, John B. Vincent

Sci Transl Med. Author manuscript; available in PMC 2010 Nov 18.

Published in final edited form as: Sci Transl Med. 2010 Sep 15; 2(49): 49ra68. doi: 10.1126/scitranslmed.3001267

PMCID:: PMC2987731

Abstract Article PDF–568K

Select item 102946035.

Ptchd1 mediates opioid tolerance via cholesterol-dependent effects on μ-opioid receptor trafficking

Nycole Maza, Dandan Wang, Cody Kowalski, Hannah M. Stoveken, Maria Dao, Omar K. Sial, Andrew C. Giles, Brock Grill, Kirill A. Martemyanov

Nat Neurosci. Author manuscript; available in PMC 2023 Jun 27.

Published in final edited form as: Nat Neurosci. 2022 Sep; 25(9): 1179–1190. Published online 2022 Aug 18. doi: 10.1038/s41593-022-01135-0

PMCID:: PMC10294603

Abstract Article PDF–6.4M

Select item 103299086.

Generation of ventralized human thalamic organoids with thalamic reticular nucleus

Ferdi Ridvan Kiral, Bilal Cakir, Yoshiaki Tanaka, Jonghun Kim, Woosub Yang, Fabien Wehbe, Young-Jin Kang, Mei Zhong, Gizem Sancer, Sang-Hun Lee, Yangfei Xiang, In-Hyun Park

Cell Stem Cell. Author manuscript; available in PMC 2024 May 4.

Published in final edited form as: Cell Stem Cell. 2023 May 4; 30(5): 677–688.e5. Published online 2023 Apr 4. doi: 10.1016/j.stem.2023.03.007

PMCID:: PMC10329908

Abstract Article PDF–2.7M

Select item 65968317.

Cellular Functions of the Autism Risk Factor PTCHD1 in Mice

David Tora, Andrea M. Gomez, Jean-Francois Michaud, Patricia T. Yam, Frédéric Charron, Peter Scheiffele

J Neurosci. 2017 Dec 6; 37(49): 11993–12005. doi: 10.1523/JNEUROSCI.1393-17.2017

PMCID:: PMC6596831

Abstract Article PDF–4.9M

Select item 89561348.

A functional cellular framework for sex and estrous cycle-dependent gene expression and behavior

Joseph R. Knoedler, Sayaka Inoue, Daniel W. Bayless, Taehong Yang, Adarsh Tantry, Chung-ha Davis, Nicole Y. Leung, Srinivas Parthasarathy, Grace Wang, Maricruz Alvarado, Abbas H. Rizvi, Lief E. Fenno, Charu Ramakrishnan, Karl Deisseroth, Nirao M. Shah

Cell. Author manuscript; available in PMC 2023 Feb 17.

Published in final edited form as: Cell. 2022 Feb 17; 185(4): 654–671.e22. Published online 2022 Jan 21. doi: 10.1016/j.cell.2021.12.031

Correction in:: Cell. 2024 Jul 11; 187(14): 3781.

PMCID:: PMC8956134

Abstract Article PDF–4.6M

Select item 52958219.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 141356810.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 1091766011.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 357241012.

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 302253413.

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 31099214.

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 31098015.

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 13924116.

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

Select item 317805917.

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

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