PMC Links for Gene (Select 2780) - PMC

Links from Gene

Items: 19

Select item 74017761.

Photoreceptor Structure in GNAT2-Associated Achromatopsia

Michalis Georgiou, Navjit Singh, Thomas Kane, Anthony G. Robson, Angelos Kalitzeos, Nashila Hirji, Andrew R. Webster, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Invest Ophthalmol Vis Sci. 2020 Mar; 61(3): 40. Published online 2020 Mar 23. doi: 10.1167/iovs.61.3.40

PMCID:: PMC7401776

Article PDF–7.6M

Select item 17352422.

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

I Aligianis, T Forshew, S Johnson, M Michaelides, C Johnson, R Trembath, D Hunt, A Moore, E Maher

J Med Genet. 2002 Sep; 39(9): 656–660. doi: 10.1136/jmg.39.9.656

PMCID:: PMC1735242

Summary PDF–305K

Select item 2993223.

Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins.

J E Buss, S M Mumby, P J Casey, A G Gilman, B M Sefton

Proc Natl Acad Sci U S A. 1987 Nov; 84(21): 7493–7497. doi: 10.1073/pnas.84.21.7493

PMCID:: PMC299322

Summary Page Browse PDF–1.2M

Select item 3791754.

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G. Jacobson, Bernd Wissinger

Am J Hum Genet. 2002 Aug; 71(2): 422–425. Published online 2002 Jun 20. doi: 10.1086/341835

PMCID:: PMC379175

Article PDF–352K

Select item 31100375.

Clinical utility gene card for: achromatopsia

Susanne Kohl, Christian P Hamel

Eur J Hum Genet. 2011 Jun; 19(6) Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.231

PMCID:: PMC3110037

Article PDF–109K

Select item 29760186.

Replacing the rod with the cone transducin α subunit decreases sensitivity and accelerates response decay

C-K Chen, M L Woodruff, F S Chen, H Shim, M C Cilluffo, G L Fain

J Physiol. 2010 Sep 1; 588(Pt 17): 3231–3241. Published online 2010 Jul 5. doi: 10.1113/jphysiol.2010.191221

PMCID:: PMC2976018

Article PDF–434K

Select item 64864007.

Genome-wide association study of recurrent early-onset major depressive disorder

J Shi, JB Potash, JA Knowles, MM Weissman, W Coryell, WA Scheftner, WB Lawson, JR DePaulo, Jr., PV Gejman, AR Sanders, JK Johnson, P Adams, S Chaudhury, D Jancic, O Evgrafov, A Zvinyatskovskiy, N Ertman, M Gladis, K Neimanas, M Goodell, N Hale, N Ney, R Verma, D Mirel, P Holmans, DF Levinson

Mol Psychiatry. Author manuscript; available in PMC 2019 Apr 26.

Published in final edited form as: Mol Psychiatry. 2011 Feb; 16(2): 193–201. Published online 2010 Feb 2. doi: 10.1038/mp.2009.124

PMCID:: PMC6486400

Article PDF–1.0M

Select item 2822488.

Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human.

C Blatt, P Eversole-Cire, V H Cohn, S Zollman, R E Fournier, L T Mohandas, M Nesbitt, T Lugo, D T Jones, R R Reed, et al.

Proc Natl Acad Sci U S A. 1988 Oct; 85(20): 7642–7646. doi: 10.1073/pnas.85.20.7642

PMCID:: PMC282248

Summary Page Browse PDF–1.0M

Select item 39730189.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Sonja I. Berndt, Stefan Gustafsson, Reedik Mägi, Andrea Ganna, Eleanor Wheeler, Mary F. Feitosa, Anne E. Justice, Keri L. Monda, Damien C. Croteau-Chonka, Felix R. Day, Tõnu Esko, Tove Fall, Teresa Ferreira, Davide Gentilini, Anne U. Jackson, Jian’an Luan, Joshua C. Randall, Sailaja Vedantam, Cristen J. Willer, Thomas W. Winkler, Andrew R. Wood, Tsegaselassie Workalemahu, Yi-Juan Hu, Sang Hong Lee, Liming Liang, Dan-Yu Lin, Josine L. Min, Benjamin M. Neale, Gudmar Thorleifsson, Jian Yang, Eva Albrecht, Najaf Amin, Jennifer L. Bragg-Gresham, Gemma Cadby, Martin den Heijer, Niina Eklund, Krista Fischer, Anuj Goel, Jouke-Jan Hottenga, Jennifer E. Huffman, Ivonne Jarick, Åsa Johansson, Toby Johnson, Stavroula Kanoni, Marcus E. Kleber, Inke R. König, Kati Kristiansson, Zoltán Kutalik, Claudia Lamina, Cecile Lecoeur, Guo Li, Massimo Mangino, Wendy L. McArdle, Carolina Medina-Gomez, Martina Müller-Nurasyid, Julius S. Ngwa, Ilja M. Nolte, Lavinia Paternoster, Sonali Pechlivanis, Markus Perola, Marjolein J. Peters, Michael Preuss, Lynda M. Rose, Jianxin Shi, Dmitry Shungin, Albert Vernon Smith, Rona J. Strawbridge, Ida Surakka, Alexander Teumer, Mieke D. Trip, Jonathan Tyrer, Jana V. Van Vliet-Ostaptchouk, Liesbeth Vandenput, Lindsay L. Waite, Jing Hua Zhao, Devin Absher, Folkert W. Asselbergs, Mustafa Atalay, Antony P. Attwood, Anthony J. Balmforth, Hanneke Basart, John Beilby, Lori L. Bonnycastle, Paolo Brambilla, Marcel Bruinenberg, Harry Campbell, Daniel I. Chasman, Peter S. Chines, Francis S. Collins, John M. Connell, William Cookson, Ulf de Faire, Femmie de Vegt, Mariano Dei, Maria Dimitriou, Sarah Edkins, Karol Estrada, David M. Evans, Martin Farrall, Marco M. Ferrario, Jean Ferrières, Lude Franke, Francesca Frau, Pablo V. Gejman, Harald Grallert, Henrik Grönberg, Vilmundur Gudnason, Alistair S. Hall, Per Hall, Anna-Liisa Hartikainen, Caroline Hayward, Nancy L. Heard-Costa, Andrew C. Heath, Johannes Hebebrand, Georg Homuth, Frank B. Hu, Sarah E. Hunt, Elina Hyppönen, Carlos Iribarren, Kevin B. Jacobs, John-Olov Jansson, Antti Jula, Mika Kähönen, Sekar Kathiresan, Frank Kee, Kay-Tee Khaw, Mika Kivimaki, Wolfgang Koenig, Aldi T. Kraja, Meena Kumari, Kari Kuulasmaa, Johanna Kuusisto, Jaana H. Laitinen, Timo A. Lakka, Claudia Langenberg, Lenore J. Launer, Lars Lind, Jaana Lindström, Jianjun Liu, Antonio Liuzzi, Marja-Liisa Lokki, Mattias Lorentzon, Pamela A. Madden, Patrik K. Magnusson, Paolo Manunta, Diana Marek, Winfried März, Irene Mateo Leach, Barbara McKnight, Sarah E. Medland, Evelin Mihailov, Lili Milani, Grant W. Montgomery, Vincent Mooser, Thomas W. Mühleisen, Patricia B. Munroe, Arthur W. Musk, Narisu Narisu, Gerjan Navis, George Nicholson, Ellen A. Nohr, Ken K. Ong, Ben A. Oostra, Colin N.A. Palmer, Aarno Palotie, John F. Peden, Nancy Pedersen, Annette Peters, Ozren Polasek, Anneli Pouta, Peter P. Pramstaller, Inga Prokopenko, Carolin Pütter, Aparna Radhakrishnan, Olli Raitakari, Augusto Rendon, Fernando Rivadeneira, Igor Rudan, Timo E. Saaristo, Jennifer G. Sambrook, Alan R. Sanders, Serena Sanna, Jouko Saramies, Sabine Schipf, Stefan Schreiber, Heribert Schunkert, So-Youn Shin, Stefano Signorini, Juha Sinisalo, Boris Skrobek, Nicole Soranzo, Alena Stancáková, Klaus Stark, Jonathan C. Stephens, Kathleen Stirrups, Ronald P. Stolk, Michael Stumvoll, Amy J. Swift, Eirini V. Theodoraki, Barbara Thorand, David-Alexandre Tregouet, Elena Tremoli, Melanie M. Van der Klauw, Joyce B.J. van Meurs, Sita H. Vermeulen, Jorma Viikari, Jarmo Virtamo, Veronique Vitart, Gérard Waeber, Zhaoming Wang, Elisabeth Widén, Sarah H. Wild, Gonneke Willemsen, Bernhard R. Winkelmann, Jacqueline C.M. Witteman, Bruce H.R. Wolffenbuttel, Andrew Wong, Alan F. Wright, M. Carola Zillikens, Philippe Amouyel, Bernhard O. Boehm, Eric Boerwinkle, Dorret I. Boomsma, Mark J. Caulfield, Stephen J. Chanock, L. Adrienne Cupples, Daniele Cusi, George V. Dedoussis, Jeanette Erdmann, Johan G. Eriksson, Paul W. Franks, Philippe Froguel, Christian Gieger, Ulf Gyllensten, Anders Hamsten, Tamara B. Harris, Christian Hengstenberg, Andrew A. Hicks, Aroon Hingorani, Anke Hinney, Albert Hofman, Kees G. Hovingh, Kristian Hveem, Thomas Illig, Marjo-Riitta Jarvelin, Karl-Heinz Jöckel, Sirkka M. Keinanen-Kiukaanniemi, Lambertus A. Kiemeney, Diana Kuh, Markku Laakso, Terho Lehtimäki, Douglas F. Levinson, Nicholas G. Martin, Andres Metspalu, Andrew D. Morris, Markku S. Nieminen, Inger Njølstad, Claes Ohlsson, Albertine J. Oldehinkel, Willem H. Ouwehand, Lyle J. Palmer, Brenda Penninx, Chris Power, Michael A. Province, Bruce M. Psaty, Lu Qi, Rainer Rauramaa, Paul M. Ridker, Samuli Ripatti, Veikko Salomaa, Nilesh J. Samani, Harold Snieder, Thorkild I.A. Sørensen, Timothy D. Spector, Kari Stefansson, Anke Tönjes, Jaakko Tuomilehto, André G. Uitterlinden, Matti Uusitupa, Pim van der Harst, Peter Vollenweider, Henri Wallaschofski, Nicholas J. Wareham, Hugh Watkins, H.-Erich Wichmann, James F. Wilson, Goncalo R. Abecasis, Themistocles L. Assimes, Inês Barroso, Michael Boehnke, Ingrid B. Borecki, Panos Deloukas, Caroline S. Fox, Timothy Frayling, Leif C. Groop, Talin Haritunian, Iris M. Heid, David Hunter, Robert C. Kaplan, Fredrik Karpe, Miriam Moffatt, Karen L. Mohlke, Jeffrey R. O’Connell, Yudi Pawitan, Eric E. Schadt, David Schlessinger, Valgerdur Steinthorsdottir, David P. Strachan, Unnur Thorsteinsdottir, Cornelia M. van Duijn, Peter M. Visscher, Anna Maria Di Blasio, Joel N. Hirschhorn, Cecilia M. Lindgren, Andrew P. Morris, David Meyre, André Scherag, Mark I. McCarthy, Elizabeth K. Speliotes, Kari E. North, Ruth J.F. Loos, Erik Ingelsson

Nat Genet. Author manuscript; available in PMC 2014 Apr 2.

Published in final edited form as: Nat Genet. 2013 May; 45(5): 501–512. Published online 2013 Apr 7. doi: 10.1038/ng.2606

PMCID:: PMC3973018

Article PDF–567K

Select item 998681710.

METTL3 protects METTL14 from STUB1‐mediated degradation to maintain m⁶A homeostasis

Zhan‐Cheng Zeng, Qi Pan, Yu‐Meng Sun, Heng‐Jing Huang, Xiao‐Tong Chen, Tian‐Qi Chen, Bo He, Hua Ye, Shun‐Xin Zhu, Ke‐Jia Pu, Ke Fang, Wei Huang, Yue‐Qin Chen, Wen‐Tao Wang

EMBO Rep. 2023 Mar; 24(3): e55762. Published online 2023 Jan 4. doi: 10.15252/embr.202255762

PMCID:: PMC9986817

Article PDF–3.5M

Select item 298946111.

Systematic Characterization of Human Protein Complexes Identifies Chromosome Segregation Proteins

James R.A. Hutchins, Yusuke Toyoda, Björn Hegemann, Ina Poser, Jean-Karim Hériché, Martina M. Sykora, Martina Augsburg, Otto Hudecz, Bettina A. Buschhorn, Jutta Bulkescher, Christian Conrad, David Comartin, Alexander Schleiffer, Mihail Sarov, Andrei Pozniakovsky, Mikolaj Michal Slabicki, Siegfried Schloissnig, Ines Steinmacher, Marit Leuschner, Andrea Ssykor, Steffen Lawo, Laurence Pelletier, Holger Stark, Kim Nasmyth, Jan Ellenberg, Richard Durbin, Frank Buchholz, Karl Mechtler, Anthony A. Hyman, Jan-Michael Peters

Science. Author manuscript; available in PMC 2010 Nov 22.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 593–599. Published online 2010 Apr 1. doi: 10.1126/science.1181348

PMCID:: PMC2989461

Article PDF–2.2M

Select item 319082612.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Article PDF–5.7M

Select item 461721113.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Article PDF–2.2M

Select item 553161114.

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

Article PDF–2.7M

Select item 816503015.

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