PMC Links for Gene (Select 144406) - PMC

Select item 61282511.

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Yasmina Auguste, Valérie Delague, Jean-Pierre Desvignes, Guy Longepied, Audrey Gnisci, Pierre Besnier, Nicolas Levy, Christophe Beroud, André Megarbane, Catherine Metzler-Guillemain, Michael J. Mitchell

Am J Hum Genet. 2018 Sep 6; 103(3): 413–420. Published online 2018 Aug 16. doi: 10.1016/j.ajhg.2018.07.013

PMCID:: PMC6128251

Abstract Article PDF–1.8M

Select item 36101872.

Wdr66 is a novel marker for risk stratification and involved in epithelial-mesenchymal transition of esophageal squamous cell carcinoma

Qing Wang, Chenming Ma, Wolfgang Kemmner

BMC Cancer. 2013; 13: 137. Published online 2013 Mar 21. doi: 10.1186/1471-2407-13-137

PMCID:: PMC3610187

Abstract Article PDF–2.9M

Select item 63656863.

PTEN downregulates WD repeat-containing protein 66 in salivary adenoid cystic carcinoma

Yu Cao, Han Liu, Shi-Lin Xia, Xi Zhang, Han Bai, Qian Yang, Jiang Li, Liwei Gao, Feng Jin, Min-Jie Wei, Shi-Long Lu, Jing Xiao

Oncol Rep. 2019 Mar; 41(3): 1827–1836. Published online 2018 Dec 13. doi: 10.3892/or.2018.6931

PMCID:: PMC6365686

Abstract Article PDF–970K

Select item 61283044.

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

Zine-Eddine Kherraf, Amir Amiri-Yekta, Denis Dacheux, Thomas Karaouzène, Charles Coutton, Marie Christou-Kent, Guillaume Martinez, Nicolas Landrein, Pauline Le Tanno, Selima Fourati Ben Mustapha, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Karin Pernet-Gallay, Hamid Gourabi, Derrick R. Robinson, Serge Crouzy, Michael Blum, Nicolas Thierry-Mieg, Aminata Touré, Raoudha Zouari, Christophe Arnoult, Mélanie Bonhivers, Pierre F. Ray

Am J Hum Genet. 2018 Sep 6; 103(3): 400–412. Published online 2018 Aug 16. doi: 10.1016/j.ajhg.2018.07.014

PMCID:: PMC6128304

Abstract Article PDF–1.6M

Select item 26680365.

A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume

Christa Meisinger, Holger Prokisch, Christian Gieger, Nicole Soranzo, Divya Mehta, Dieter Rosskopf, Peter Lichtner, Norman Klopp, Jonathan Stephens, Nicholas A. Watkins, Panos Deloukas, Andreas Greinacher, Wolfgang Koenig, Matthias Nauck, Christian Rimmbach, Henry Völzke, Annette Peters, Thomas Illig, Willem H. Ouwehand, Thomas Meitinger, H.-Erich Wichmann, Angela Döring

Am J Hum Genet. 2009 Jan 9; 84(1): 66–71. doi: 10.1016/j.ajhg.2008.11.015

PMCID:: PMC2668036

Abstract Article PDF–472K

Select item 20647966.

A conserved CaM- and radial spoke–associated complex mediates regulation of flagellar dynein activity

Erin E. Dymek, Elizabeth F. Smith

J Cell Biol. 2007 Nov 5; 179(3): 515–526. doi: 10.1083/jcb.200703107

PMCID:: PMC2064796

Abstract Article PDF–1.6M

Select item 38806057.

A Genome- and Phenome-Wide Association Study to Identify Genetic Variants Influencing Platelet Count and Volume and their Pleiotropic Effects

Khader Shameer, Joshua C. Denny, Keyue Ding, Hayan Jouni, David R. Crosslin, Mariza de Andrade, Christopher G. Chute, Peggy Peissig, Jennifer A. Pacheco, Rongling Li, Lisa Bastarache, Abel N. Kho, Marylyn D Ritchie, Daniel R. Masys, Rex L. Chisholm, Eric B. Larson, Catherine A. McCarty, Dan M. Roden, Gail P. Jarvik, Iftikhar J. Kullo

Hum Genet. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Hum Genet. 2014 Jan; 133(1): 10.1007/s00439-013-1355-7. Published online 2013 Sep 12. doi: 10.1007/s00439-013-1355-7

PMCID:: PMC3880605

Abstract Article PDF–2.2M

Select item 31084598.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

Nicole Soranzo, Tim D Spector, Massimo Mangino, Brigitte Kühnel, Augusto Rendon, Alexander Teumer, Christina Willenborg, Benjamin Wright, Li Chen, Mingyao Li, Perttu Salo, Benjamin F Voight, Philippa Burns, Roman A Laskowski, Yali Xue, Stephan Menzel, David Altshuler, John R Bradley, Suzannah Bumpstead, Mary-Susan Burnett, Joseph Devaney, Angela Döring, Roberto Elosua, Stephen Epstein, Wendy Erber, Mario Falchi, Stephen F Garner, Mohammed J R Ghori, Alison H Goodall, Rhian Gwilliam, Hakon H Hakonarson, Alistair S Hall, Naomi Hammond, Christian Hengstenberg, Thomas Illig, Inke R König, Christopher W Knouff, Ruth McPherson, Olle Melander, Vincent Mooser, Matthias Nauck, Markku S Nieminen, Christopher J O’Donnell, Leena Peltonen, Simon C Potter, Holger Prokisch, Daniel J Rader, Catherine M Rice, Robert Roberts, Veikko Salomaa, Jennifer Sambrook, Stefan Schreiber, Heribert Schunkert, Stephen M Schwartz, Jovana Serbanovic-Canic, Juha Sinisalo, David S. Siscovick, Klaus Stark, Ida Surakka, Jonathan Stephens, John R Thompson, Uwe Völker, Henry Völzke, Nicholas A Watkins, George A Wells, H-Erich Wichmann, David A Van Heel, Chris Tyler-Smith, Swee Lay Thein, Sekar Kathiresan, Markus Perola, Muredach P Reilly, Alexandre F R Stewart, Jeanette Erdmann, Nilesh J Samani, Christa Meisinger, Andreas Greinacher, Panos Deloukas, Willem H Ouwehand, Christian Gieger

Nat Genet. Author manuscript; available in PMC 2011 Jun 6.

Published in final edited form as: Nat Genet. 2009 Nov; 41(11): 1182–1190. Published online 2009 Oct 11. doi: 10.1038/ng.467

PMCID:: PMC3108459

Abstract Article PDF–1.6M

Select item 33352969.

New gene functions in megakaryopoiesis and platelet formation

Christian Gieger, Aparna Radhakrishnan, Ana Cvejic, Weihong Tang, Eleonora Porcu, Giorgio Pistis, Jovana Serbanovic-Canic, Ulrich Elling, Alison H. Goodall, Yann Labrune, Lorna M. Lopez, Reedik Mägi, Stuart Meacham, Yukinori Okada, Nicola Pirastu, Rossella Sorice, Alexander Teumer, Katrin Voss, Weihua Zhang, Ramiro Ramirez-Solis, Joshua C. Bis, David Ellinghaus, Martin Gögele, Jouke-Jan Hottenga, Claudia Langenberg, Peter Kovacs, Paul F. O’Reilly, So-Youn Shin, Tõnu Esko, Jaana Hartiala, Stavroula Kanoni, Federico Murgia, Afshin Parsa, Jonathan Stephens, Pim van der Harst, C. Ellen van der Schoot, Hooman Allayee, Antony Attwood, Beverley Balkau, François Bastardot, Saonli Basu, Sebastian E. Baumeister, Ginevra Biino, Lorenzo Bomba, Amélie Bonnefond, François Cambien, John C. Chambers, Francesco Cucca, Pio D’Adamo, Gail Davies, Rudolf A. de Boer, Eco J. C. de Geus, Angela Döring, Paul Elliott, Jeanette Erdmann, David M. Evans, Mario Falchi, Wei Feng, Aaron R. Folsom, Ian H. Frazer, Quince D. Gibson, Nicole L. Glazer, Chris Hammond, Anna-Liisa Hartikainen, Susan R. Heckbert, Christian Hengstenberg, Micha Hersch, Thomas Illig, Ruth J. F. Loos, Jennifer Jolley, Kay Tee Khaw, Brigitte Kühnel, Marie-Christine Kyrtsonis, Vasiliki Lagou, Heather Lloyd-Jones, Thomas Lumley, Massimo Mangino, Andrea Maschio, Irene Mateo Leach, Barbara McKnight, Yasin Memari, Braxton D. Mitchell, Grant W. Montgomery, Yusuke Nakamura, Matthias Nauck, Gerjan Navis, Ute Nöthlings, Ilja M. Nolte, David J. Porteous, Anneli Pouta, Peter P. Pramstaller, Janne Pullat, Susan M. Ring, Jerome I. Rotter, Daniela Ruggiero, Aimo Ruokonen, Cinzia Sala, Nilesh J. Samani, Jennifer Sambrook, David Schlessinger, Stefan Schreiber, Heribert Schunkert, James Scott, Nicholas L. Smith, Harold Snieder, John M. Starr, Michael Stumvoll, Atsushi Takahashi, W. H. Wilson Tang, Kent Taylor, Albert Tenesa, Swee Lay Thein, Anke Tönjes, Manuela Uda, Sheila Ulivi, Dirk J. van Veldhuisen, Peter M. Visscher, Uwe Völker, H.-Erich Wichmann, Kerri L. Wiggins, Gonneke Willemsen, Tsun-Po Yang, Jing Hua Zhao, Paavo Zitting, John R. Bradley, George V. Dedoussis, Paolo Gasparini, Stanley L. Hazen, Andres Metspalu, Mario Pirastu, Alan R. Shuldiner, L. Joost van Pelt, Jaap-Jan Zwaginga, Dorret I. Boomsma, Ian J. Deary, Andre Franke, Philippe Froguel, Santhi K. Ganesh, Marjo-Riitta Jarvelin, Nicholas G. Martin, Christa Meisinger, Bruce M. Psaty, Timothy D. Spector, Nicholas J. Wareham, Jan-Willem N. Akkerman, Marina Ciullo, Panos Deloukas, Andreas Greinacher, Steve Jupe, Naoyuki Kamatani, Jyoti Khadake, Jaspal S. Kooner, Josef Penninger, Inga Prokopenko, Derek Stemple, Daniela Toniolo, Lorenz Wernisch, Serena Sanna, Andrew A. Hicks, Augusto Rendon, Manuel A. Ferreira, Willem H. Ouwehand, Nicole Soranzo

Nature. Author manuscript; available in PMC 2012 Apr 24.

Published in final edited form as: Nature. 2011 Nov 30; 480(7376): 201–208. Published online 2011 Nov 30. doi: 10.1038/nature10659

PMCID:: PMC3335296

Abstract Article PDF–862K

Select item 406425410.

An atlas of genetic influences on human blood metabolites

So-Youn Shin, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, Cristina Menni, Lu Chen, Louella Vasquez, Ana M. Valdes, Craig L. Hyde, Vicky Wang, Daniel Ziemek, Phoebe Roberts, Li Xi, Elin Grundberg, The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Melanie Waldenberger, J. Brent Richards, Robert P. Mohney, Michael V. Milburn, Sally L. John, Jeff Trimmer, Fabian J. Theis, John P. Overington, Karsten Suhre, M. Julia Brosnan, Christian Gieger, Gabi Kastenmüller, Tim D Spector, Nicole Soranzo

Nat Genet. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Nat Genet. 2014 Jun; 46(6): 543–550. Published online 2014 May 11. doi: 10.1038/ng.2982

PMCID:: PMC4064254

Abstract Article PDF–2.4M

Select item 425650711.

The Functional Landscape of Hsp27 Reveals New Cellular Processes such as DNA Repair and Alternative Splicing and Proposes Novel Anticancer Targets

Maria Katsogiannou, Claudia Andrieu, Virginie Baylot, Anaïs Baudot, Nelson J. Dusetti, Odile Gayet, Pascal Finetti, Carmen Garrido, Daniel Birnbaum, François Bertucci, Christine Brun, Palma Rocchi

Mol Cell Proteomics. 2014 Dec; 13(12): 3585–3601. Published online 2014 Oct 1. doi: 10.1074/mcp.M114.041228

PMCID:: PMC4256507

Abstract Article PDF–3.9M

Select item 292822412.

Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity

HD Hosgood, III, L Zhang, M Shen, SI Berndt, R Vermeulen, G Li, S Yin, M Yeager, J Yuenger, N Rothman, S Chanock, M Smith, Q Lan

Occup Environ Med. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Occup Environ Med. 2009 Dec; 66(12): 848–853. Published online 2009 Sep 22. doi: 10.1136/oem.2008.044024

PMCID:: PMC2928224

Abstract Article PDF–321K

Select item 732206713.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117