PMC Links for Gene (Select 57578) - PMC

Select item 66716791.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli-Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al-Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, Michèle Mayer, Jennifer McEvoy-Venneri, Andre Megarbane, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, Cecile Ravix, Arndt Rolfs, Abdelrahim Abdrabou Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stephanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann-Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

Hum Genet. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 753–768. Published online 2018 Aug 23. doi: 10.1007/s00439-018-1929-5

PMCID:: PMC6671679

Article PDF–649K

Select item 47166672.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya

Am J Hum Genet. 2016 Jan 7; 98(1): 210–215. Published online 2015 Dec 17. doi: 10.1016/j.ajhg.2015.11.013

PMCID:: PMC4716667

Article PDF–1.1M

Select item 71824173.

The NALCN channel complex is voltage sensitive and directly modulated by extracellular calcium

H. C. Chua, M. Wulf, C. Weidling, L. P. Rasmussen, S. A. Pless

Sci Adv. 2020 Apr; 6(17): eaaz3154. Published online 2020 Apr 24. doi: 10.1126/sciadv.aaz3154

PMCID:: PMC7182417

Article PDF–12M

Select item 30705994.

A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations

Penelope A Lind, Stuart Macgregor, Jacqueline M Vink, Michele L Pergadia, Narelle K Hansell, Marleen HM de Moor, August B Smit, Jouke-Jan Hottenga, Melinda M Richter, Andrew C Heath, Nicholas G Martin, Gonneke Willemsen, Eco JC de Geus, Nicole Vogelzangs, Brenda W Penninx, John B Whitfield, Grant W Montgomery, Dorret I Boomsma, Pamela AF Madden

Twin Res Hum Genet. Author manuscript; available in PMC 2011 Apr 4.

Published in final edited form as: Twin Res Hum Genet. 2010 Feb; 13(1): 10–29. doi: 10.1375/twin.13.1.10

PMCID:: PMC3070599

Article PDF–402K

Select item 29876305.

Extracellular Calcium Controls Background Current and Neuronal Excitability via an UNC79-UNC80-NALCN Cation Channel Complex

Boxun Lu, Qi Zhang, Haikun Wang, Yan Wang, Manabu Nakayama, Dejian Ren

Neuron. Author manuscript; available in PMC 2011 Nov 4.

Published in final edited form as: Neuron. 2010 Nov 4; 68(3): 488–499. doi: 10.1016/j.neuron.2010.09.014

PMCID:: PMC2987630

Article PDF–1.5M

Select item 29208476.

Conserved Role of unc-79 in Ethanol Responses in Lightweight Mutant Mice

David J. Speca, Daisuke Chihara, Amir M. Ashique, M. Scott Bowers, Jonathan T. Pierce-Shimomura, Jungsoo Lee, Nusrat Rabbee, Terence P. Speed, Rodrigo J. Gularte, James Chitwood, Juan F. Medrano, Mark Liao, James M. Sonner, Edmond I. Eger, II, Andrew S. Peterson, Steven L. McIntire

PLoS Genet. 2010 Aug; 6(8): e1001057. Published online 2010 Aug 12. doi: 10.1371/journal.pgen.1001057

PMCID:: PMC2920847

Article PDF–832K

Select item 35791387.

Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes?

James A Nathan, Hyoung Tae Kim, Lily Ting, Steven P Gygi, Alfred L Goldberg

EMBO J. 2013 Feb 20; 32(4): 552–565. Published online 2013 Jan 11. doi: 10.1038/emboj.2012.354

PMCID:: PMC3579138

Article PDF–1.5M

Select item 50980428.

Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells

Giorgio Oliviero, Gerard L. Brien, Ariane Waston, Gundula Streubel, Emilia Jerman, Darrell Andrews, Benjamin Doyle, Nayla Munawar, Kieran Wynne, John Crean, Adrian P. Bracken, Gerard Cagney

Mol Cell Proteomics. 2016 Nov; 15(11): 3450–3460. Published online 2016 Sep 15. doi: 10.1074/mcp.M116.062240

PMCID:: PMC5098042

Article PDF–1.9M

Select item 75237069.

Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis

Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani

Oncogene. Author manuscript; available in PMC 2020 Sep 29.

Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9

PMCID:: PMC7523706

Article PDF–2.3M

Select item 184794810.

Large-scale mapping of human protein–protein interactions by mass spectrometry

Rob M Ewing, Peter Chu, Fred Elisma, Hongyan Li, Paul Taylor, Shane Climie, Linda McBroom-Cerajewski, Mark D Robinson, Liam O'Connor, Michael Li, Rod Taylor, Moyez Dharsee, Yuen Ho, Adrian Heilbut, Lynda Moore, Shudong Zhang, Olga Ornatsky, Yury V Bukhman, Martin Ethier, Yinglun Sheng, Julian Vasilescu, Mohamed Abu-Farha, Jean-Philippe Lambert, Henry S Duewel, Ian I Stewart, Bonnie Kuehl, Kelly Hogue, Karen Colwill, Katharine Gladwish, Brenda Muskat, Robert Kinach, Sally-Lin Adams, Michael F Moran, Gregg B Morin, Thodoros Topaloglou, Daniel Figeys

Mol Syst Biol. 2007; 3: 89. Published online 2007 Mar 13. doi: 10.1038/msb4100134

PMCID:: PMC1847948

Article PDF–440K

Select item 289646411.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Article PDF–2.4M

Select item 616668212.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Article PDF–3.8M

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