PMC Links for GEO Profiles (Select 97657925) - PMC

Select item 106672151.

Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis

Felix O’Farrell, Benjamin Aleyakpo, Rima Mustafa, Xiyun Jiang, Rui Climaco Pinto, Paul Elliott, Ioanna Tzoulaki, Abbas Dehghan, Samantha H. Y. Loh, Jeff W. Barclay, L. Miguel Martins, Raha Pazoki

Sci Rep. 2023; 13: 20616. Published online 2023 Nov 23. doi: 10.1038/s41598-023-47371-7

PMCID:: PMC10667215

Abstract Article PDF–2.5M

Select item 56785812.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 55572763.

15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

J Med Genet. Author manuscript; available in PMC 2017 Aug 15.

Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436

PMCID:: PMC5557276

Abstract Article PDF–786K

Select item 49784214.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Michinori Toriyama, Chanjae Lee, S. Paige Taylor, Ivan Duran, Daniel H. Cohn, Ange-Line Bruel, Jacqueline M. Tabler, Kevin Drew, Marcus R. Kelley, Sukyoung Kim, Tae Joo Park, Daniella Braun, Ghislaine Pierquin, Armand Biver, Kerstin Wagner, Anne Malfroot, Inusha Panigrahi, Brunella Franco, Hadeel Adel Al-lami, Yvonne Yeung, Yeon Ja Choi, University of Washington Center for Mendelian Genomics, Yannis Duffourd, Laurence Faivre, Jean-Baptiste Rivière, Jiang Chen, Karen J. Liu, Edward M. Marcotte, Friedhelm Hildebrandt, Christel Thauvin-Robinet, Deborah Krakow, Peter K. Jackson, John B. Wallingford

Nat Genet. Author manuscript; available in PMC 2016 Nov 9.

Published in final edited form as: Nat Genet. 2016 Jun; 48(6): 648–656. Published online 2016 May 9. doi: 10.1038/ng.3558

PMCID:: PMC4978421

Abstract Article PDF–3.9M

Select item 35225875.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 35097896.

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

Su Kyoung Kim, Asako Shindo, Tae Joo Park, Edwin C. Oh, Srimoyee Ghosh, Ryan S. Gray, Richard A. Lewis, Colin A. Johnson, Tania Attie-Bittach, Nicholas Katsanis, John B. Wallingford

Science. Author manuscript; available in PMC 2012 Nov 29.

Published in final edited form as: Science. 2010 Sep 10; 329(5997): 1337–1340. Published online 2010 Jul 29. doi: 10.1126/science.1191184

PMCID:: PMC3509789

Abstract Article PDF–2.9M

Select item 31780597.

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

Abstract Article PDF–1.0M

Select item 31760758.

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

Jianjun Chen, Nizar Smaoui, Monia Ben Hamed Hammer, Xiaodong Jiao, S. Amer Riazuddin, Shyana Harper, Nicholas Katsanis, Sheikh Riazuddin, Habiba Chaabouni, Eliot L. Berson, J. Fielding Hejtmancik

Invest Ophthalmol Vis Sci. 2011 Jul; 52(8): 5317–5324. Published online 2011 Jul 18. doi: 10.1167/iovs.11-7554

PMCID:: PMC3176075

Abstract Article PDF–1.6M

Select item 29451689.

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

Abstract Article PDF–153K

Select item 277583210.

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

Abstract Article PDF–2.8M

Select item 236206711.

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

David Melzer, John R. B. Perry, Dena Hernandez, Anna-Maria Corsi, Kara Stevens, Ian Rafferty, Fulvio Lauretani, Anna Murray, J. Raphael Gibbs, Giuseppe Paolisso, Sajjad Rafiq, Javier Simon-Sanchez, Hana Lango, Sonja Scholz, Michael N. Weedon, Sampath Arepalli, Neil Rice, Nicole Washecka, Alison Hurst, Angela Britton, William Henley, Joyce van de Leemput, Rongling Li, Anne B. Newman, Greg Tranah, Tamara Harris, Vijay Panicker, Colin Dayan, Amanda Bennett, Mark I. McCarthy, Aimo Ruokonen, Marjo-Riitta Jarvelin, Jack Guralnik, Stefania Bandinelli, Timothy M. Frayling, Andrew Singleton, Luigi Ferrucci

PLoS Genet. 2008 May; 4(5): e1000072. Published online 2008 May 9. doi: 10.1371/journal.pgen.1000072

PMCID:: PMC2362067

Abstract Article PDF–442K

Select item 144957812.

The WD40 Repeat Protein Fritz Links Cytoskeletal Planar Polarity to Frizzled Subcellular Localization in the Drosophila Epidermis

Simon Collier, Haeryun Lee, Rosemary Burgess, Paul Adler

Genetics. 2005 Apr; 169(4): 2035–2045. doi: 10.1534/genetics.104.033381

PMCID:: PMC1449578

Abstract Article PDF–878K

Select item 13924113.

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

Abstract Article PDF–118K

Select item 13914614.

Large-Scale Concatenation cDNA Sequencing

Wei Yu, Björn Andersson, Kim C. Worley, Donna M. Muzny, Yan Ding, Wen Liu, Jennifer Y. Ricafrente, Meredith A. Wentland, Greg Lennon, Richard A. Gibbs

Genome Res. 1997 Apr; 7(4): 353–358. doi: 10.1101/gr.7.4.353

PMCID:: PMC139146

Abstract Article PDF–62K

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