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Items: 1 to 20 of 23

1.
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene
Jana Sajovic, Andrej Meglič, Marija Volk, Aleš Maver, Martina Jarc-Vidmar, Marko Hawlina, Ana Fakin
Genes (Basel) 2023 Feb; 14(2): 291. Published online 2023 Jan 22. doi: 10.3390/genes14020291
PMCID:
PMC9957452
AbstractArticlePDF–13M
2.
A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia
Xiaoqing Ni, Jiajia Wang, Mingrong Lv, Chunyu Liu, Yading Zhong, Shixiong Tian, Huan Wu, Huiru Cheng, Yang Gao, Qing Tan, Beili Chen, Qiang Li, Bing Song, Zhaolian Wei, Ping Zhou, Xiaojin He, Feng Zhang, Yunxia Cao
J Assist Reprod Genet. 2020 Jun; 37(6): 1431–1439. Published online 2020 Apr 23. doi: 10.1007/s10815-020-01770-1
PMCID:
PMC7311615
AbstractArticlePDF–2.4M
3.
WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
RG Coussa, EA Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandtand, RK Koenekoop
Clin Genet. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 150–159. doi: 10.1111/cge.12196
PMCID:
PMC3904424
AbstractArticlePDF–6.2M
4.
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M. Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan-Stephan F. Sanders, Irene Stolte-Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Cécile Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine V.A.M. Knoers, Ronald Roepman, Heleen H. Arts
Am J Hum Genet. 2011 Nov 11; 89(5): 634–643. doi: 10.1016/j.ajhg.2011.10.001
PMCID:
PMC3213394
AbstractArticlePDF–822K
5.
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto
Hum Genet. Author manuscript; available in PMC 2015 Nov 13.
Published in final edited form as: Hum Genet. 2013 Aug; 132(8): 865–884. Published online 2013 Apr 5. doi: 10.1007/s00439-013-1297-0
PMCID:
PMC4643834
AbstractArticlePDF–847K
6.
Role for the IFT-A complex in selective transport to the primary cilium
Wenxiang Fu, Lei Wang, Sehyun Kim, Ji Li, Brian David Dynlacht
Cell Rep. Author manuscript; available in PMC 2016 Nov 25.
Published in final edited form as: Cell Rep. 2016 Nov 1; 17(6): 1505–1517. doi: 10.1016/j.celrep.2016.10.018
PMCID:
PMC5123888
AbstractArticlePDF–3.0M
7.
Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein–coupled receptors
Tomoaki Hirano, Yohei Katoh, Kazuhisa Nakayama
Mol Biol Cell. 2017 Feb 1; 28(3): 429–439. doi: 10.1091/mbc.E16-11-0813
PMCID:
PMC5341726
AbstractArticlePDF–2.7M
8.
Heritability and genetic association analysis of cognition in the Diabetes Heart Study
Amanda J. Cox, Christina E. Hugenschmidt, Laura M. Raffield, Carl D. Langefeld, Barry I. Freedman, Jeff D. Williamson, Fang-Chi Hsu, Donald W. Bowden
Neurobiol Aging. Author manuscript; available in PMC 2015 May 4.
Published in final edited form as: Neurobiol Aging. 2014 Aug; 35(8): 1958.e3–1958.e12. Published online 2014 Mar 11. doi: 10.1016/j.neurobiolaging.2014.03.005
PMCID:
PMC4418030
AbstractArticlePDF–1.5M
9.
TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia
Saikat Mukhopadhyay, Xiaohui Wen, Ben Chih, Christopher D. Nelson, William S. Lane, Suzie J. Scales, Peter K. Jackson
Genes Dev. 2010 Oct 1; 24(19): 2180–2193. doi: 10.1101/gad.1966210
PMCID:
PMC2947770
AbstractArticlePDF–1.9M
10.
Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer‐related pathways in breast cancer
Yan Liu, Jian Li, Zhifang Ma, Jun Zhang, Yuzhi Wang, Zhenghong Yu, Xue Lin, Zhi Xu, Qian Su, Li An, Yehui Zhou, Xinxing Ma, Yiwen Yang, Feifei Wang, Qingfei Chen, Yunchao Zhang, Jilinlin Wang, Huilin Zheng, Aihua Shi, Shuang Yu, Jingzhong Zhang, Weiyong Zhao, Liming Chen
Cancer Med. 2019 Feb; 8(2): 729–741. Published online 2019 Jan 16. doi: 10.1002/cam4.1938
PMCID:
PMC6504119
AbstractArticlePDF–1.3M
11.
A conserved acetylation switch enables pharmacological control of tubby-like protein stability
Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard
J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839
PMCID:
PMC7948452
AbstractArticlePDF–3.6M
12.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile
Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert
Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116
Correction in:
Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.
PMCID:
PMC6600915
AbstractArticlePDF–1.7M
13.
Systematic protein–protein interaction mapping for clinically relevant human GPCRs
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430
PMCID:
PMC5371730
AbstractArticlePDF–4.1M
14.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
15.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M
16.
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
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
17.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
18.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
19.
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
20.
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

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