PMC Links for Gene (Select 11081) - PMC

Select item 46309341.

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

Laura Roos, Birgitte Bertelsen, Pernille Harris, Anette Bygum, Hanne Jensen, Karen Grønskov, Zeynep Tümer

BMC Med Genet. 2015; 16: 40. Published online 2015 Jun 23. doi: 10.1186/s12881-015-0179-9

PMCID:: PMC4630934

Select item 40394702.

Mutation in KERA Identified by Linkage Analysis and Targeted Resequencing in a Pedigree with Premature Atherosclerosis

Stephanie Maiwald, Suthesh Sivapalaratnam, Mahdi M. Motazacker, Julian C. van Capelleveen, Ilze Bot, Saskia C. de Jager, Miranda van Eck, Jennifer Jolley, Johan Kuiper, Jonathon Stephens, Cornelius A. Albers, C. Ruben Vosmeer, Heleen Kruize, Daan P. Geerke, Allard C. van der Wal, Chris M. van der Loos, John J. P. Kastelein, Mieke D. Trip, Willem H. Ouwehand, Geesje M. Dallinga-Thie, G. Kees Hovingh

PLoS One. 2014; 9(5): e98289. Published online 2014 May 30. doi: 10.1371/journal.pone.0098289

PMCID:: PMC4039470

Abstract Article PDF–3.9M

Select item 19500543.

Keratocan expression is increased in the stroma of keratoconus corneas.

K. Wentz-Hunter, E. L. Cheng, J. Ueda, J. Sugar, B. Y. Yue

Mol Med. 2001 Jul; 7(7): 470–477.

PMCID:: PMC1950054

Summary PDF–120K

Select item 29106384.

Linkage of Posterior Amorphous Corneal Dystrophy to Chromosome 12q21.33 and Exclusion of Coding Region Mutations in KERA, LUM, DCN, and EPYC

Anthony J. Aldave, George O. D. Rosenwasser, Vivek S. Yellore, Jeanette C. Papp, Eric M. Sobel, Michele N. Pham, Michael C. Chen, Sugandha Dandekar, Ram Sripracha, Sylvia A. Rayner, Joseph W. Sassani, Michael B. Gorin

Invest Ophthalmol Vis Sci. 2010 Aug; 51(8): 4006–4012. doi: 10.1167/iovs.09-4067

PMCID:: PMC2910638

Abstract Article PDF–382K

Select item 25756255.

Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues

James Melrose, Emily S Fuller, Peter J Roughley, Margaret M Smith, Briedgeen Kerr, Clare E Hughes, Bruce Caterson, Christopher B Little

Arthritis Res Ther. 2008; 10(4): R79. Published online 2008 Jul 14. doi: 10.1186/ar2453

PMCID:: PMC2575625

Abstract Article PDF–881K

Select item 28476816.

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

David P. Dimasi, Kathryn P. Burdon, Alex W. Hewitt, Ravi Savarirayan, Paul R. Healey, Paul Mitchell, David A. Mackey, Jamie E. Craig

Mol Vis. 2010; 16: 562–569. Published online 2010 Mar 31.

PMCID:: PMC2847681

Abstract Article PDF–1.1M

Select item 38602587.

Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9

Jeannette Simino, Yun Ju Sung, Rezart Kume, Karen Schwander, D. C. Rao

Front Genet. 2013; 4: 277. Published online 2013 Dec 12. doi: 10.3389/fgene.2013.00277

PMCID:: PMC3860258

Abstract Article PDF–2.9M

Select item 35272138.

Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function

Dana B. Hancock, María Soler Artigas, Sina A. Gharib, Amanda Henry, Ani Manichaikul, Adaikalavan Ramasamy, Daan W. Loth, Medea Imboden, Beate Koch, Wendy L. McArdle, Albert V. Smith, Joanna Smolonska, Akshay Sood, Wenbo Tang, Jemma B. Wilk, Guangju Zhai, Jing Hua Zhao, Hugues Aschard, Kristin M. Burkart, Ivan Curjuric, Mark Eijgelsheim, Paul Elliott, Xiangjun Gu, Tamara B. Harris, Christer Janson, Georg Homuth, Pirro G. Hysi, Jason Z. Liu, Laura R. Loehr, Kurt Lohman, Ruth J. F. Loos, Alisa K. Manning, Kristin D. Marciante, Ma'en Obeidat, Dirkje S. Postma, Melinda C. Aldrich, Guy G. Brusselle, Ting-hsu Chen, Gudny Eiriksdottir, Nora Franceschini, Joachim Heinrich, Jerome I. Rotter, Cisca Wijmenga, O. Dale Williams, Amy R. Bentley, Albert Hofman, Cathy C. Laurie, Thomas Lumley, Alanna C. Morrison, Bonnie R. Joubert, Fernando Rivadeneira, David J. Couper, Stephen B. Kritchevsky, Yongmei Liu, Matthias Wjst, Louise V. Wain, Judith M. Vonk, André G. Uitterlinden, Thierry Rochat, Stephen S. Rich, Bruce M. Psaty, George T. O'Connor, Kari E. North, Daniel B. Mirel, Bernd Meibohm, Lenore J. Launer, Kay-Tee Khaw, Anna-Liisa Hartikainen, Christopher J. Hammond, Sven Gläser, Jonathan Marchini, Peter Kraft, Nicholas J. Wareham, Henry Völzke, Bruno H. C. Stricker, Timothy D. Spector, Nicole M. Probst-Hensch, Deborah Jarvis, Marjo-Riitta Jarvelin, Susan R. Heckbert, Vilmundur Gudnason, H. Marike Boezen, R. Graham Barr, Patricia A. Cassano, David P. Strachan, Myriam Fornage, Ian P. Hall, Josée Dupuis, Martin D. Tobin, Stephanie J. London

PLoS Genet. 2012 Dec; 8(12): e1003098. Published online 2012 Dec 20. doi: 10.1371/journal.pgen.1003098

PMCID:: PMC3527213

Abstract Article PDF–417K

Select item 27528119.

Sequential Use of Transcriptional Profiling, Expression Quantitative Trait Mapping, and Gene Association Implicates MMP20 in Human Kidney Aging

Heather E. Wheeler, E. Jeffrey Metter, Toshiko Tanaka, Devin Absher, John Higgins, Jacob M. Zahn, Julie Wilhelmy, Ronald W. Davis, Andrew Singleton, Richard M. Myers, Luigi Ferrucci, Stuart K. Kim

PLoS Genet. 2009 Oct; 5(10): e1000685. Published online 2009 Oct 16. doi: 10.1371/journal.pgen.1000685

PMCID:: PMC2752811

Abstract Article PDF–409K

Select item 185094310.

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 756688111.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 553161112.

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 816503013.

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