PMC Links for GEO Profiles (Select 109712061) - PMC

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Items: 17

Select item 90505601.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P Ferla, Charul Gijavanekar, Aljazi Al-Maraghi, Ning Liu, Emily Sites, Hessa S Alsaif, Mohammad Al-Owain, Mohamed Zakkariah, Ehab El-Anany, Ulviyya Guliyeva, Sughra Guliyeva, Colette Gaba, Ateeq Haseeb, Amal M Alhashem, Enam Danish, Vasiliki Karageorgou, Christian Beetz, Alaa A Subhi, Sureni V Mullegama, Erin Torti, Monisha Sebastin, Margo Sheck Breilyn, Susan Duberstein, Mohamed S Abdel-Hamid, Tadahiro Mitani, Haowei Du, Jill A Rosenfeld, Shalini N Jhangiani, Zeynep Coban Akdemir, Richard A Gibbs, Jenny C Taylor, Khalid A Fakhro, Jill V Hunter, Davut Pehlivan, Maha S Zaki, Joseph G Gleeson, Reza Maroofian, Henry Houlden, Jennifer E Posey, V Reid Sutton, Fowzan S Alkuraya, Sarah H Elsea, James R Lupski

Brain. 2022 Mar; 145(3): 909–924. Published online 2021 Oct 4. doi: 10.1093/brain/awab369

PMCID:: PMC9050560

Abstract Article PDF–1.7M

Select item 81650302.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 69965383.

Manganese-Induced Downregulation of Astroglial Glutamine Transporter SNAT3 Involves Ubiquitin-Mediated Proteolytic System

MARTA SIDORYK-WECGRZYNOWICZ, EUN-SOOK LEE, MINGWEI NI, MICHAEL ASCHNER

Glia. Author manuscript; available in PMC 2020 Feb 3.

Published in final edited form as: Glia. 2010 Dec; 58(16): 1905–1912. doi: 10.1002/glia.21060

PMCID:: PMC6996538

Abstract Article PDF–1.1M

Select item 63350994.

Blood-Brain Barrier: From Physiology to Disease and Back

Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic

Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017

PMCID:: PMC6335099

Abstract Article

Select item 55316115.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 46558226.

Establishment and Dysfunction of the Blood-Brain Barrier

Zhen Zhao, Amy R. Nelson, Christer Betsholtz, Berislav V. Zlokovic

Cell. Author manuscript; available in PMC 2016 Nov 19.

Published in final edited form as: Cell. 2015 Nov 19; 163(5): 1064–1078. doi: 10.1016/j.cell.2015.10.067

PMCID:: PMC4655822

Abstract Article PDF–1.4M

Select item 44247947.

Expression of Glutamine Transporter Slc38a3 (SNAT3) During Acidosis is Mediated by a Different Mechanism than Tissue-Specific Expression

Sarojini Balkrishna, Angelika Bröer, Scott M. Welford, Maria Hatzoglou, Stefan Bröer

Cell Physiol Biochem. Author manuscript; available in PMC 2015 May 16.

Published in final edited form as: Cell Physiol Biochem. 2014; 33(5): 1591–1606. Published online 2014 May 16. doi: 10.1159/000358722

PMCID:: PMC4424794

Abstract Article PDF–1.8M

Select item 32617088.

Toward an understanding of the protein interaction network of the human liver

Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang

Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67

Correction in:: Mol Syst Biol. 2017 Dec; 13(12): 965.

PMCID:: PMC3261708

Abstract Article PDF–2.0M

Select item 31780599.

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 134750110.

The LIFEdb database in 2006

Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann

Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139

PMCID:: PMC1347501

Abstract Article PDF–301K

Select item 108373211.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 52893012.

From ORFeome to Biology: A Functional Genomics Pipeline

Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka

Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704

PMCID:: PMC528930

Abstract Article PDF–459K

Select item 52892813.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 51531614.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Abstract Article PDF–181K

Select item 31107215.

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka

Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701