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Items: 18

1.
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History
Malena Daich Varela, Emma S. Duignan, Samantha R. De Silva, Rola Ba-Abbad, Yu Fujinami-Yokokawa, Shaun Leo, Kaoru Fujinami, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Michel Michaelides
Ophthalmol Retina. 2023 Oct; 7(10): 918–931. doi: 10.1016/j.oret.2023.06.007
PMCID:
PMC11108804
AbstractArticlePDF–3.0M
2.
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
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
3.
A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition
Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington
Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331
PMCID:
PMC8045932
AbstractArticlePDF–1.9M
4.
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Genes (Basel) 2020 Dec; 11(12): 1497. Published online 2020 Dec 12. doi: 10.3390/genes11121497
PMCID:
PMC7763961
AbstractArticlePDF–844K
5.
CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1
Xuebin Hu, Zhaojing Lu, Shanshan Yu, James Reilly, Fei Liu, Danna Jia, Yayun Qin, Shanshan Han, Xiliang Liu, Zhen Qu, Yuexia Lv, Jingzhen Li, Yuwen Huang, Tao Jiang, Haibo Jia, Qing Wang, Jingyu Liu, Xinhua Shu, Zhaohui Tang, Mugen Liu
Autophagy. 2019; 15(3): 453–465. Published online 2018 Sep 25. doi: 10.1080/15548627.2018.1520548
PMCID:
PMC6351130
AbstractArticlePDF–2.7M
6.
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
AbstractArticlePDF–2.7M
7.
Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes
Bruce A. Ong, Jin Li, Joseph M. McDonough, Zhi Wei, Cecilia Kim, Rosetta Chiavacci, Frank Mentch, Jason B. Caboot, Jonathan Spergel, Julian L. Allen, Patrick M. A. Sleiman, Hakon Hakonarson
PLoS One. 2013; 8(9): e72899. Published online 2013 Sep 2. doi: 10.1371/journal.pone.0072899
PMCID:
PMC3759429
AbstractArticlePDF–120K
8.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
9.
Multiple Loci Are Associated with White Blood Cell Phenotypes
Michael A. Nalls, David J. Couper, Toshiko Tanaka, Frank J. A. van Rooij, Ming-Huei Chen, Albert V. Smith, Daniela Toniolo, Neil A. Zakai, Qiong Yang, Andreas Greinacher, Andrew R. Wood, Melissa Garcia, Paolo Gasparini, Yongmei Liu, Thomas Lumley, Aaron R. Folsom, Alex P. Reiner, Christian Gieger, Vasiliki Lagou, Janine F. Felix, Henry Völzke, Natalia A. Gouskova, Alessandro Biffi, Angela Döring, Uwe Völker, Sean Chong, Kerri L. Wiggins, Augusto Rendon, Abbas Dehghan, Matt Moore, Kent Taylor, James G. Wilson, Guillaume Lettre, Albert Hofman, Joshua C. Bis, Nicola Pirastu, Caroline S. Fox, Christa Meisinger, Jennifer Sambrook, Sampath Arepalli, Matthias Nauck, Holger Prokisch, Jonathan Stephens, Nicole L. Glazer, L. Adrienne Cupples, Yukinori Okada, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Tatsuhiko Tsunoda, Toshihiro Tanaka, Michiaki Kubo, Yusuke Nakamura, Kazuhiko Yamamoto, Naoyuki Kamatani, Michael Stumvoll, Anke Tönjes, Inga Prokopenko, Thomas Illig, Kushang V. Patel, Stephen F. Garner, Brigitte Kuhnel, Massimo Mangino, Ben A. Oostra, Swee Lay Thein, Josef Coresh, H.-Erich Wichmann, Stephan Menzel, JingPing Lin, Giorgio Pistis, André G. Uitterlinden, Tim D. Spector, Alexander Teumer, Gudny Eiriksdottir, Vilmundur Gudnason, Stefania Bandinelli, Timothy M. Frayling, Aravinda Chakravarti, Cornelia M. van Duijn, David Melzer, Willem H. Ouwehand, Daniel Levy, Eric Boerwinkle, Andrew B. Singleton, Dena G. Hernandez, Dan L. Longo, Nicole Soranzo, Jacqueline C. M. Witteman, Bruce M. Psaty, Luigi Ferrucci, Tamara B. Harris, Christopher J. O'Donnell, Santhi K. Ganesh
PLoS Genet. 2011 Jun; 7(6): e1002113. Published online 2011 Jun 30. doi: 10.1371/journal.pgen.1002113
PMCID:
PMC3128114
AbstractArticlePDF–522K
10.
Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study
Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators
Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452
PMCID:
PMC2945168
AbstractArticlePDF–153K
11.
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
AbstractArticlePDF–2.4M
12.
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani
Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014
PMCID:
PMC2775832
AbstractArticlePDF–2.8M
13.
Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress
Miquel Tuson, Alejandro Garanto, Roser Gonzàlez-Duarte, Gemma Marfany
Mol Vis. 2009; 15: 168–180. Published online 2009 Jan 21.
PMCID:
PMC2628313
AbstractArticlePDF–18M
14.
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
Manir Ali, Vedam Lakshmi Ramprasad, Nagasamy Soumittra, Moin D. Mohamed, Hussain Jafri, Yasmin Rashid, Michael Danciger, Martin McKibbin, Govindasamy Kumaramanickavel, Chris F. Inglehearn
Mol Vis. 2008; 14: 1960–1964. Published online 2008 Oct 30.
PMCID:
PMC2576480
AbstractArticlePDF–1.5M
15.
Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results
George R. Uhl, Qing-Rong Liu, Tomas Drgon, Catherine Johnson, Donna Walther, Jed E. Rose, Sean P. David, Ray Niaura, Caryn Lerman
Arch Gen Psychiatry. Author manuscript; available in PMC 2008 Jun 17.
Published in final edited form as: Arch Gen Psychiatry. 2008 Jun; 65(6): 683–693. doi: 10.1001/archpsyc.65.6.683
PMCID:
PMC2430596
AbstractArticlePDF–1.0M
16.
Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)
Miquel Tuson, Gemma Marfany, Roser Gonzàlez-Duarte
Am J Hum Genet. 2004 Jan; 74(1): 128–138. Published online 2003 Dec 16. doi: 10.1086/381055
PMCID:
PMC1181900
AbstractArticlePDF–459K
17.
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
M Bayés, B Goldaracena, A Martínez-Mir, M I Iragui-Madoz, T Solans, P Chivelet, E Bussaglia, M A Ramos-Arroyo, M Baiget, L Vilageliu, S Balcells, R Gonzàlez-Duarte, D Grinberg
J Med Genet. 1998 Feb; 35(2): 141–145. doi: 10.1136/jmg.35.2.141
PMCID:
PMC1051219
SummaryPage BrowsePDF–1.1M
18.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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