PMC Links for Gene (Select 199857) - PMC

Select item 55629631.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

David C. Schorling, Simone Rost, Dirk J. Lefeber, Lauren Brady, Clemens R. Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G. Bönnemann, Richard J. Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner

Neurology. 2017 Aug 15; 89(7): 657–664. doi: 10.1212/WNL.0000000000004234

PMCID:: PMC5562963

Article PDF–694K

Select item 35802732.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Judith Cossins, Katsiaryna Belaya, Debbie Hicks, Mustafa A. Salih, Sarah Finlayson, Nicola Carboni, Wei Wei Liu, Susan Maxwell, Katarzyna Zoltowska, Golara Torabi Farsani, Steven Laval, Mohammed Zain Seidhamed, WGS500 consortium, Peter Donnelly, David Bentley, Simon J. McGowan, Juliane Müller, Jacqueline Palace, Hanns Lochmüller, David Beeson

Brain. 2013 Mar; 136(3): 944–956. Published online 2013 Feb 11. doi: 10.1093/brain/awt010

PMCID:: PMC3580273

Article PDF–1.1M

Select item 32809683.

Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations

Ayşe Demirkan, Cornelia M. van Duijn, Peter Ugocsai, Aaron Isaacs, Peter P. Pramstaller, Gerhard Liebisch, James F. Wilson, Åsa Johansson, Igor Rudan, Yurii S. Aulchenko, Anatoly V. Kirichenko, A. Cecile J. W. Janssens, Ritsert C. Jansen, Carsten Gnewuch, Francisco S. Domingues, Cristian Pattaro, Sarah H. Wild, Inger Jonasson, Ozren Polasek, Irina V. Zorkoltseva, Albert Hofman, Lennart C. Karssen, Maksim Struchalin, James Floyd, Wilmar Igl, Zrinka Biloglav, Linda Broer, Arne Pfeufer, Irene Pichler, Susan Campbell, Ghazal Zaboli, Ivana Kolcic, Fernando Rivadeneira, Jennifer Huffman, Nicholas D. Hastie, Andre Uitterlinden, Lude Franke, Christopher S. Franklin, Veronique Vitart, DIAGRAM Consortium, Christopher P. Nelson, Michael Preuss, CARDIoGRAM Consortium, Joshua C. Bis, Christopher J. O'Donnell, Nora Franceschini, CHARGE Consortium, Jacqueline C. M. Witteman, Tatiana Axenovich, Ben A. Oostra, Thomas Meitinger, Andrew A. Hicks, Caroline Hayward, Alan F. Wright, Ulf Gyllensten, Harry Campbell, Gerd Schmitz, on behalf of the EUROSPAN consortium

PLoS Genet. 2012 Feb; 8(2): e1002490. Published online 2012 Feb 16. doi: 10.1371/journal.pgen.1002490

PMCID:: PMC3280968

Article PDF–592K

Select item 38910544.

Genome-Wide Association Study Identifies Novel Loci Associated With Concentrations of Four Plasma Phospholipid Fatty Acids in the De Novo Lipogenesis Pathway: Results from the CHARGE Consortium

Jason H.Y. Wu, Rozenn N. Lemaitre, Ani Manichaikul, Weihua Guan, Toshiko Tanaka, Millennia Foy, Edmond K. Kabagambe, Luc Djousse, David Siscovick, Amanda M. Fretts, Catherine Johnson, Irena B. King, Bruce M. Psaty, Barbara McKnight, Stephen S. Rich, Yii-Der I. Chen, Jennifer A. Nettleton, Weihong Tang, Stefania Bandinelli, David R. Jacobs, Jr, Brian L. Browning, Cathy C. Laurie, Xiangjun Gu, Michael Y. Tsai, Lyn M. Steffen, Luigi Ferrucci, Myriam Fornage, Dariush Mozaffarian

Circ Cardiovasc Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Apr; 6(2): 171–183. Published online 2013 Jan 29. doi: 10.1161/CIRCGENETICS.112.964619

PMCID:: PMC3891054

Article PDF–1.9M

Select item 83529645.

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger

Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y

PMCID:: PMC8352964

Article PDF–4.5M

Select item 46172116.

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 55316117.

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 81650308.

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