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Items: 1 to 20 of 40

1.
A novel superfamily of bridge-like lipid transfer proteins
Sarah D. Neuman, Tim P. Levine, Arash Bashirullah
Trends Cell Biol. Author manuscript; available in PMC 2023 Nov 1.
Published in final edited form as: Trends Cell Biol. 2022 Nov; 32(11): 962–974. Published online 2022 Apr 28. doi: 10.1016/j.tcb.2022.03.011
PMCID:
PMC9588498
AbstractArticlePDF–1.3M
2.
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature
Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji, Babylakshmi Muthusamy
BMC Med Genet. 2020; 21: 136. Published online 2020 Jun 26. doi: 10.1186/s12881-020-01074-2
PMCID:
PMC7318400
AbstractArticlePDF–1.7M
3.
FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease
Rong Chen, Alex A Morgan, Joel Dudley, Tarangini Deshpande, Li Li, Keiichi Kodama, Annie P Chiang, Atul J Butte
Genome Biol. 2008; 9(12): R170. Published online 2008 Dec 5. doi: 10.1186/gb-2008-9-12-r170
PMCID:
PMC2646274
AbstractArticlePDF–476K
4.
Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases
Alexandra  Zhernakova, Behrooz Z.  Alizadeh, Marianna  Bevova, Miek A. van  Leeuwen, Marieke J. H.  Coenen, Barbara  Franke, Lude  Franke, Marcel D.  Posthumus, David A. van  Heel, Gerrit van der  Steege, Timothy R. D. J.  Radstake, Pilar  Barrera, Bart O.  Roep, Bobby P. C.  Koeleman, Cisca  Wijmenga
Am J Hum Genet. 2007 Dec; 81(6): 1284–1288. Published online 2007 Oct 24. doi: 10.1086/522037
PMCID:
PMC2276343
AbstractArticlePDF–120K
5.
Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
Megan S. Kane, Callie J. Diamonstein, Natalie Hauser, John F. Deeken, John E. Niederhuber, Thierry Vilboux
Genes Dis. 2019 Mar; 6(1): 56–67. Published online 2019 Jan 7. doi: 10.1016/j.gendis.2018.12.004
PMCID:
PMC6411657
AbstractArticlePDF–2.4M
6.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J. Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michaël Wiederkehr, Caroline F. Wright, DDD Study, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M. Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond
Am J Hum Genet. 2018 Jan 4; 102(1): 116–132. Published online 2017 Dec 28. doi: 10.1016/j.ajhg.2017.12.002
PMCID:
PMC5777449
AbstractArticlePDF–2.3M
7.
Lacritin and Other New Proteins of the Lacrimal Functional Unit
Robert L. McKown, Ningning Wang, Ronald W. Raab, Roy Karnati, Yinghui Zhang, Patricia B. Williams, Gordon W. Laurie
Exp Eye Res. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Exp Eye Res. 2009 May; 88(5): 848–858. Published online 2008 Sep 18. doi: 10.1016/j.exer.2008.09.002
PMCID:
PMC2712882
AbstractArticlePDF–1.0M
8.
Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study
Nick Shrine, Michael A Portelli, Catherine John, María Soler Artigas, Neil Bennett, Robert Hall, Jon Lewis, Amanda P Henry, Charlotte K Billington, Azaz Ahmad, Richard J Packer, Dominick Shaw, Zara E K Pogson, Andrew Fogarty, Tricia M McKeever, Amisha Singapuri, Liam G Heaney, Adel H Mansur, Rekha Chaudhuri, Neil C Thomson, John W Holloway, Gabrielle A Lockett, Peter H Howarth, Ratko Djukanovic, Jenny Hankinson, Robert Niven, Angela Simpson, Kian Fan Chung, Peter J Sterk, John D Blakey, Ian M Adcock, Sile Hu, Yike Guo, Maen Obeidat, Don D Sin, Maarten van den Berge, David C Nickle, Yohan Bossé, Martin D Tobin, Ian P Hall, Christopher E Brightling, Louise V Wain, Ian Sayers
Lancet Respir Med. 2019 Jan; 7(1): 20–34. doi: 10.1016/S2213-2600(18)30389-8
PMCID:
PMC6314966
AbstractArticle
9.
Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis
Ming-ming Yang, Timothy Y.Y. Lai, Pancy O.S. Tam, Sylvia W.Y. Chiang, Carmen K.M. Chan, Fiona O.J. Luk, Tsz-Kin Ng, Chi-Pui Pang
Mol Vis. 2012; 18: 1865–1873. Published online 2012 Jul 11.
PMCID:
PMC3413425
AbstractArticlePDF–1.4M
10.
Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance
Jade E Hollis-Moffatt, Michael Chen-Xu, Ruth Topless, Nicola Dalbeth, Peter J Gow, Andrew A Harrison, John Highton, Peter BB Jones, Michael Nissen, Malcolm D Smith, Andre van Rij, Gregory T Jones, Lisa K Stamp, Tony R Merriman
Arthritis Res Ther. 2010; 12(3): R116. Published online 2010 Jun 16. doi: 10.1186/ar3053
PMCID:
PMC2911910
AbstractArticlePDF–1.0M
11.
Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study
Vitor Hugo Teixeira, Celine Pierlot, Paola Migliorini, Alejandro Balsa, René Westhovens, Pilar Barrera, Helena Alves, Carlos Vaz, Manuela Fernandes, Dora Pascual-Salcedo, Stefano Bombardieri, Jan Dequeker, Timothy R Radstake, Piet Van Riel, Leo van de Putte, Antonio Lopes-Vaz, Thomas Bardin, Bernard Prum, François Cornélis, Elisabeth Petit-Teixeira, the European Consortium on Rheumatoid Arthritis Families
Arthritis Res Ther. 2009; 11(2): R45. Published online 2009 Mar 20. doi: 10.1186/ar2654
PMCID:
PMC2688193
AbstractArticlePDF–251K
12.
Systematic identification of host cell regulators of Legionella pneumophila pathogenesis using a genome-wide CRISPR screen
Edwin E. Jeng, Varun Bhadkamkar, Nnejiuwa U. Ibe, Haley Gause, Lihua Jiang, Joanne Chan, Ruiqi Jian, David Jimenez-Morales, Erica Stevenson, Nevan J. Krogan, Danielle L. Swaney, Michael P. Snyder, Shaeri Mukherjee, Michael C. Bassik
Cell Host Microbe. Author manuscript; available in PMC 2020 Oct 9.
Published in final edited form as: Cell Host Microbe. 2019 Oct 9; 26(4): 551–563.e6. Published online 2019 Sep 17. doi: 10.1016/j.chom.2019.08.017
PMCID:
PMC6800164
AbstractArticlePDF–2.8M
13.
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
David A van Heel, Lude Franke, Karen A Hunt, Rhian Gwilliam, Alexandra Zhernakova, Mike Inouye, Martin C Wapenaar, Martin CNM Barnardo, Graeme Bethel, Geoffrey KT Holmes, Con Feighery, Derek Jewell, Dermot Kelleher, Parveen Kumar, Simon Travis, Julian RF Walters, David S Sanders, Peter Howdle, Jill Swift, Raymond J Playford, William M McLaren, M Luisa Mearin, Chris J Mulder, Ross McManus, Ralph McGinnis, Lon R Cardon, Panos Deloukas, Cisca Wijmenga
Nat Genet. Author manuscript; available in PMC 2008 Mar 25.
Published in final edited form as: Nat Genet. 2007 Jul; 39(7): 827–829. Published online 2007 Jun 10. doi: 10.1038/ng2058
PMCID:
PMC2274985
AbstractArticlePDF–614K
14.
Vps13-like proteins provide phosphatidylethanolamine for GPI anchor synthesis in the ER
Alexandre Toulmay, Fawn B. Whittle, Jerry Yang, Xiaofei Bai, Jessica Diarra, Subhrajit Banerjee, Tim P. Levine, Andy Golden, William A. Prinz
J Cell Biol. 2022 Mar 7; 221(3): e202111095. Published online 2022 Jan 11. doi: 10.1083/jcb.202111095
PMCID:
PMC8757616
AbstractArticlePDF–4.9M
15.
Tweek, an evolutionary conserved proteinis required for synaptic vesicle recycling
Patrik Verstreken, Tomoko Ohyama, Claire Haueter, Ron L.P. Habets, Yong Q. Lin, Laura E. Swan, Cindy V. Ly, Koen J. T. Venken, Pietro De Camilli, Hugo J. Bellen
Neuron. Author manuscript; available in PMC 2010 Jul 30.
Published in final edited form as: Neuron. 2009 Jul 30; 63(2): 203–215. doi: 10.1016/j.neuron.2009.06.017
PMCID:
PMC2759194
AbstractArticlePDF–8.1M
16.
Genome-Wide Association Study of Celiac Disease in North America Confirms FRMD4B as New Celiac Locus
Chad Garner, Richard Ahn, Yuan Chun Ding, Linda Steele, Samantha Stoven, Peter H. Green, Alessio Fasano, Joseph A. Murray, Susan L. Neuhausen
PLoS One. 2014; 9(7): e101428. Published online 2014 Jul 7. doi: 10.1371/journal.pone.0101428
PMCID:
PMC4084811
AbstractArticlePDF–254K
17.
Novel celiac disease genetic determinants related to the immune response
Karen A Hunt, Alexandra Zhernakova, Graham Turner, Graham A.R. Heap, Lude Franke, Marcel Bruinenberg, Jihane Romanos, Lotte C. Dinesen, Anthony W Ryan, Davinder Panesar, Rhian Gwilliam, Fumihiko Takeuchi, William M McLaren, Geoffrey KT Holmes, Peter D Howdle, Julian RF Walters, David S Sanders, Raymond J Playford, Gosia Trynka, Chris JJ Mulder, M Luisa Mearin, Wieke HM Verbeek, Valerie Trimble, Fiona M Stevens, Colm O’Morain, Nicholas P Kennedy, Dermot Kelleher, Daniel J Pennington, David P Strachan, Wendy L McArdle, Charles A Mein, Martin C Wapenaar, Panos Deloukas, Ralph McGinnis, Ross McManus, Cisca Wijmenga, David A van Heel
Nat Genet. Author manuscript; available in PMC 2009 Apr 27.
Published in final edited form as: Nat Genet. 2008 Apr; 40(4): 395–402. Published online 2008 Mar 2. doi: 10.1038/ng.102
PMCID:
PMC2673512
AbstractArticlePDF–1.1M
18.
Meta-analysis of genome-wide association studies identifies 10 loci influencing allergic sensitization
Klaus Bønnelykke, Melanie C Matheson, Tune H Pers, Raquel Granell, David P Strachan, Alexessander Couto Alves, Allan Linneberg, John A Curtin, Nicole M Warrington, Marie Standl, Marjan Kerkhof, Ingileif Jonsdottir, Blazenka K Bukvic, Marika Kaakinen, Patrick Sleimann, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Katharina Schramm, Svetlana Baltic, Eskil Kreiner-Møller, Angela Simpson, Beate St Pourcain, Lachlan Coin, Jennie Hui, Eugene H Walters, Carla M T Tiesler, David L Duffy, Graham Jones, AAGC, Susan M Ring, Wendy L McArdle, Loren Price, Colin F Robertson, Juha Pekkanen, Clara S Tang, Elisabeth Thiering, Grant W Montgomery, Anna-Liisa Hartikainen, Shyamali C Dharmage, Lise L Husemoen, Christian Herder, John P Kemp, Paul Elliot, Alan James, Melanie Waldenberger, Michael J Abramson, Benjamin P Fairfax, Julian C Knight, Ramneek Gupta, Philip J Thompson, Patrick Holt, Peter Sly, Joel N Hirschhorn, Mario Blekic, Stephan Weidinger, Hakon Hakonarsson, Kari Stefansson, Joachim Heinrich, Dirkje S Postma, Adnan Custovic, Craig E Pennell, Marjo-Riitta Jarvelin, Gerard H Koppelman, Nicholas Timpson, Manuel A Ferreira, Hans Bisgaard, A John Henderson
Nat Genet. Author manuscript; available in PMC 2016 Jun 27.
Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 902–906. Published online 2013 Jun 30. doi: 10.1038/ng.2694
PMCID:
PMC4922420
AbstractArticlePDF–937K
19.
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
Eli A. Stahl, Soumya Raychaudhuri, Elaine F. Remmers, Gang Xie, Stephen Eyre, Brian P. Thomson, Yonghong Li, Fina A. S. Kurreeman, Alexandra Zhernakova, Anne Hinks, Candace Guiducci, Robert Chen, Lars Alfredsson, Christopher I. Amos, Kristin G. Ardlie, BIRAC Consortium, Anne Barton, John Bowes, Elisabeth Brouwer, Noel P. Burtt, Joseph J. Catanese, Jonathan Coblyn, Marieke JH Coenen, Karen H. Costenbader, Lindsey A. Criswell, J. Bart A. Crusius, Jing Cui, Paul I.W. de Bakker, Phillip L. De Jager, Bo Ding, Paul Emery, Edward Flynn, Pille Harrison, Lynne J. Hocking, Tom W. J. Huizinga, Daniel L. Kastner, Xiayi Ke, Annette T. Lee, Xiangdong Liu, Paul Martin, Ann W. Morgan, Leonid Padyukov, Marcel D. Posthumus, Timothy RDJ Radstake, David M. Reid, Mark Seielstad, Michael F. Seldin, Nancy A. Shadick, Sophia Steer, Paul P. Tak, Wendy Thomson, Annette H. M. van der Helm-van Mil, Irene E. van der Horst-Bruinsma, C. Ellen van der Schoot, Piet LCM van Riel, Michael E. Weinblatt, Anthony G. Wilson, Gert Jan Wolbink, Paul Wordsworth, YEAR Consortium, Cisca Wijmenga, Elizabeth W. Karlson, Rene E. M. Toes, Niek de Vries, Ann B. Begovich, Jane Worthington, Katherine A. Siminovitch, Peter K. Gregersen, Lars Klareskog, Robert M. Plenge
Nat Genet. Author manuscript; available in PMC 2014 Nov 25.
Published in final edited form as: Nat Genet. 2010 Jun; 42(6): 508–514. Published online 2010 May 9. doi: 10.1038/ng.582
PMCID:
PMC4243840
AbstractArticlePDF–748K
20.
Genome-wide association study and meta-analysis finds over 40 loci affect risk of type 1 diabetes
Jeffrey C. Barrett, David Clayton, Patrick Concannon, Beena Akolkar, Jason D. Cooper, Henry A. Erlich, Cécile Julier, Grant Morahan, Jørn Nerup, Concepcion Nierras, Vincent Plagnol, Flemming Pociot, Helen Schuilenburg, Deborah J. Smyth, Helen Stevens, John A. Todd, Neil M. Walker, Stephen S. Rich, the Type 1 Diabetes Genetics Consortium
Nat Genet. Author manuscript; available in PMC 2010 Sep 21.
Published in final edited form as: Nat Genet. 2009 Jun; 41(6): 703–707. Published online 2009 May 10. doi: 10.1038/ng.381
PMCID:
PMC2889014
AbstractArticlePDF–458K

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