PMC Links for Gene (Select 686) - PMC

Select item 50708971.

Clinical utility gene card for: Biotinidase deficiency—update 2015

Sébastien Küry, Vincent Ramaekers, Stéphane Bézieau, Barry Wolf

Eur J Hum Genet. 2016 Jul; 24(7) Published online 2015 Nov 18. doi: 10.1038/ejhg.2015.246

PMCID:: PMC5070897

Select item 42365872.

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

Taciane Borsatto, Fernanda Sperb-Ludwig, Louise LC Pinto, Gisele R De Luca, Francisca L Carvalho, Carolina FM De Souza, Paula FV De Medeiros, Charles M Lourenço, Reinaldo LO Filho, Eurico C Neto, Pricila Bernardi, Sandra Leistner-Segal, Ida VD Schwartz

BMC Med Genet. 2014; 15: 96. Published online 2014 Sep 1. doi: 10.1186/s12881-014-0096-3

PMCID:: PMC4236587

Abstract Article PDF–201K

Select item 34024593.

Biotinidase is a Novel Marker for Papillary Thyroid Cancer Aggressiveness

Anthony K.-C. So, Jatinder Kaur, Ipshita Kak, Jasmeet Assi, Christina MacMillan, Ranju Ralhan, Paul G. Walfish

PLoS One. 2012; 7(7): e40956. Published online 2012 Jul 23. doi: 10.1371/journal.pone.0040956

PMCID:: PMC3402459

Abstract Article PDF–543K

Select item 25930934.

Biotinyl-methyl 4-(amidomethyl) benzoate is a competitive inhibitor of human biotinidase

Keyna A. Kobza, Kittichai Chaiseeda, Gautam Sarath, James M. Takacs, Janos Zempleni

J Nutr Biochem. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: J Nutr Biochem. 2008 Dec; 19(12): 826–832. Published online 2008 May 13. doi: 10.1016/j.jnutbio.2007.11.002

PMCID:: PMC2593093

Abstract Article PDF–318K

Select item 51799485.

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

Jennifer B. Permuth, Ailith Pirie, Y. Ann Chen, Hui-Yi Lin, Brett M. Reid, Zhihua Chen, Alvaro Monteiro, Joe Dennis, Gustavo Mendoza-Fandino, AOCS Study Group, Australian Cancer Study (Ovarian Cancer), Hoda Anton-Culver, Elisa V. Bandera, Maria Bisogna, Louise Brinton, Angela Brooks-Wilson, Michael E. Carney, Georgia Chenevix-Trench, Linda S. Cook, Daniel W. Cramer, Julie M. Cunningham, Cezary Cybulski, Aimee A. D’Aloisio, Jennifer Anne Doherty, Madalene Earp, Robert P. Edwards, Brooke L. Fridley, Simon A. Gayther, Aleksandra Gentry-Maharaj, Marc T. Goodman, Jacek Gronwald, Estrid Hogdall, Edwin S. Iversen, Anna Jakubowska, Allan Jensen, Beth Y. Karlan, Linda E. Kelemen, Suzanne K. Kjaer, Peter Kraft, Nhu D. Le, Douglas A. Levine, Jolanta Lissowska, Jan Lubinski, Keitaro Matsuo, Usha Menon, Rosemary Modugno, Kirsten B. Moysich, Toru Nakanishi, Roberta B. Ness, Sara Olson, Irene Orlow, Celeste L. Pearce, Tanja Pejovic, Elizabeth M. Poole, Susan J. Ramus, Mary Anne Rossing, Dale P. Sandler, Xiao-Ou Shu, Honglin Song, Jack A. Taylor, Soo-Hwang Teo, Kathryn L. Terry, Pamela J. Thompson, Shelley S. Tworoger, Penelope M. Webb, Nicolas Wentzensen, Lynne R. Wilkens, Stacey Winham, Yin-Ling Woo, Anna H. Wu, Hannah Yang, Wei Zheng, Argyrios Ziogas, Catherine M. Phelan, Joellen M. Schildkraut, Andrew Berchuck, Ellen L. Goode, Paul D. P. Pharoah, Thomas A. Sellers, on behalf of the Ovarian Cancer Association Consortium

Hum Mol Genet. 2016 Aug 15; 25(16): 3600–3612. Published online 2016 Jul 4. doi: 10.1093/hmg/ddw196

PMCID:: PMC5179948

Abstract Article PDF–833K

Select item 31192616.

Large-scale association analyses identifies 13 new susceptibility loci for coronary artery disease

Heribert Schunkert, Inke R. König, Sekar Kathiresan, Muredach P. Reilly, Themistocles L. Assimes, Hilma Holm, Michael Preuss, Alexandre F. R. Stewart, Maja Barbalic, Christian Gieger, Devin Absher, Zouhair Aherrahrou, Hooman Allayee, David Altshuler, Sonia S. Anand, Karl Andersen, Jeffrey L. Anderson, Diego Ardissino, Stephen G. Ball, Anthony J. Balmforth, Timothy A. Barnes, Diane M. Becker, Lewis C. Becker, Klaus Berger, Joshua C. Bis, S. Matthijs Boekholdt, Eric Boerwinkle, Peter S. Braund, Morris J. Brown, Mary Susan Burnett, Ian Buysschaert, Cardiogenics, John F. Carlquist, Li Chen, Sven Cichon, Veryan Codd, Robert W. Davies, George Dedoussis, Abbas Dehghan, Serkalem Demissie, Joseph M. Devaney, Ron Do, Angela Doering, Sandra Eifert, Nour Eddine El Mokhtari, Stephen G. Ellis, Roberto Elosua, James C. Engert, Stephen E. Epstein, Ulf de Faire, Marcus Fischer, Aaron R. Folsom, Jennifer Freyer, Bruna Gigante, Domenico Girelli, Solveig Gretarsdottir, Vilmundur Gudnason, Jeffrey R. Gulcher, Eran Halperin, Naomi Hammond, Stanley L. Hazen, Albert Hofman, Benjamin D. Horne, Thomas Illig, Carlos Iribarren, Gregory T. Jones, J.Wouter Jukema, Michael A. Kaiser, Lee M. Kaplan, John J.P. Kastelein, Kay-Tee Khaw, Joshua W. Knowles, Genovefa Kolovou, Augustine Kong, Reijo Laaksonen, Diether Lambrechts, Karin Leander, Guillaume Lettre, Mingyao Li, Wolfgang Lieb, Patrick Linsel-Nitschke, Christina Loley, Andrew J. Lotery, Pier M. Mannucci, Seraya Maouche, Nicola Martinelli, Pascal P. McKeown, Christa Meisinger, Thomas Meitinger, Olle Melander, Pier Angelica Merlini, Vincent Mooser, Thomas Morgan, Thomas W. Mühleisen, Joseph B. Muhlestein, Thomas Münzel, Kiran Musunuru, Janja Nahrstaedt, Christopher P. Nelson, Markus M. Nöthen, Oliviero Olivieri, Riyaz S. Patel, Chris C. Patterson, Annette Peters, Flora Peyvandi, Liming Qu, Arshed A. Quyyumi, Daniel J. Rader, Loukianos S. Rallidis, Catherine Rice, Frits R. Rosendaal, Diana Rubin, Veikko Salomaa, M. Lourdes Sampietro, Manj S. Sandhu, Eric Schadt, Arne Schäfer, Arne Schillert, Stefan Schreiber, Jürgen Schrezenmeir, Stephen M. Schwartz, David S. Siscovick, Mohan Sivananthan, Suthesh Sivapalaratnam, Albert Smith, Tamara B. Smith, Jaapjan D. Snoep, Nicole Soranzo, John A. Spertus, Klaus Stark, Kathy Stirrups, Monika Stoll, W. H. Wilson Tang, Stephanie Tennstedt, Gudmundur Thorgeirsson, Gudmar Thorleifsson, Maciej Tomaszewski, Andre G. Uitterlinden, Andre M. van Rij, Benjamin F. Voight, Nick J. Wareham, George A. Wells, H.-Erich Wichmann, Philipp S. Wild, Christina Willenborg, Jaqueline C. M. Witteman, Benjamin J. Wright, Shu Ye, Tanja Zeller, Andreas Ziegler, Francois Cambien, Alison H. Goodall, L. Adrienne Cupples, Thomas Quertermous, Winfried März, Christian Hengstenberg, Stefan Blankenberg, Willem H. Ouwehand, Alistair S. Hall, Panos Deloukas, John R. Thompson, Kari Stefansson, Robert Roberts, Unnur Thorsteinsdottir, Christopher J. O’Donnell, Ruth McPherson, Jeanette Erdmann, Nilesh J. Samani

Nat Genet. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Nat Genet. 2011 Mar 6; 43(4): 333–338. Published online 2011 Mar 6. doi: 10.1038/ng.784

PMCID:: PMC3119261

Abstract Article PDF–405K

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

Abstract Article PDF–1.5M

Select item 18509438.

Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry

Tao Liu, Wei-Jun Qian, Marina A. Gritsenko, David G. Camp, II, Matthew E. Monroe, Ronald J. Moore, Richard D. Smith

J Proteome Res. Author manuscript; available in PMC 2007 Apr 10.

Published in final edited form as: J Proteome Res. 2005; 4(6): 2070–2080. doi: 10.1021/pr0502065

PMCID:: PMC1850943

Abstract Article PDF–626K

Select item 162679.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Abstract Article PDF–111K

Select item 923162310.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 51531611.

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 377350512.

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine

Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake

Proteomics. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561

PMCID:: PMC3773505

Abstract Article PDF–630K

Select item 927928513.

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery

Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili

Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z

PMCID:: PMC9279285

Abstract Article PDF–2.5M

Select item 461721114.

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

Abstract Article PDF–2.2M

Select item 553161115.

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 816503016.

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