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Items: 1 to 20 of 26

1.
A whole genome CRISPR screen identifies AHR loss as a mechanism of resistance to a PARP7 inhibitor
Huadong Chen, Morgan E. Diolaiti, Patrick C. O’Leary, Ajda Rojc, Nevan J. Krogan, Minkyu Kim, Alan Ashworth
Mol Cancer Ther. Author manuscript; available in PMC 2023 Jan 5.
Published in final edited form as: Mol Cancer Ther. 2022 Jul 5; 21(7): 1076–1089. doi: 10.1158/1535-7163.MCT-21-0841
PMCID:
PMC9769698
AbstractArticlePDF–2.7M
2.
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB
Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan
EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698
PMCID:
PMC9433938
AbstractArticlePDF–9.3M
3.
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
4.
Hypermethylation of UCHL1 Promotes Metastasis of Nasopharyngeal Carcinoma by Suppressing Degradation of Cortactin (CTTN)
Yin Zhao, Yuan Lei, Shi-Wei He, Ying-Qin Li, Ya-Qin Wang, Xiao-Hong Hong, Ye-Lin Liang, Jun-Yan Li, Yang Chen, Wei-Jie Luo, Pan-Pan Zhang, Xiao-Jing Yang, Qing-Mei He, Jun Ma, Na Liu, Ling-Long Tang
Cells. 2020 Mar; 9(3): 559. Published online 2020 Feb 27. doi: 10.3390/cells9030559
Correction in:
Cells. 2024 May; 13(10): 816.
PMCID:
PMC7140450
AbstractArticlePDF–4.3M
5.
Spectrum, frequency, and genotype–phenotype of mutations in SPATA7
Xueshan Xiao, Wenmin Sun, Shiqiang Li, Xiaoyun Jia, Qingjiong Zhang
Mol Vis. 2019; 25: 821–833. Published online 2019 Dec 2.
PMCID:
PMC6925664
AbstractArticlePDF–1.8M
6.
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis
Mohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, Qingzhou Zhang, Sadhna Phanse, Alla Gagarinova, Mara Zilocchi, Larissa Hoell, Zoran Minic, Maria Gagarinova, Hiroyuki Aoki, Jocelyn Stockwell, Matthew Jessulat, Florian Goebels, Kirsten Broderick, Nichollas E. Scott, James Vlasblom, Gabriel Musso, Bhanu Prasad, Eleonora Lamantea, Barbara Garavaglia, Alex Rajput, Kei Murayama, Yasushi Okazaki, Leonard J. Foster, Gary D. Bader, Francisco S. Cayabyab, Mohan Babu
iScience. 2019 Sep 27; 19: 1114–1132. Published online 2019 Sep 4. doi: 10.1016/j.isci.2019.08.057
PMCID:
PMC6831851
AbstractArticlePDF–9.8M
7.
Phenotypic Expansion and Progression of SPATA7-associated Retinitis Pigmentosa
Jesse D. Sengillo, Winston Lee, Colleen G. Bilancia, Vaidehi Jobanputra, Stephen H. Tsang
Doc Ophthalmol. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Doc Ophthalmol. 2018 Apr; 136(2): 125–133. Published online 2018 Feb 6. doi: 10.1007/s10633-018-9626-1
PMCID:
PMC6015729
AbstractArticlePDF–818K
8.
SPATA7: Evolving Phenotype from Cone-Rod Dystrophy to Retinitis Pigmentosa
Rodrigo Matsui, David B. McGuigan, III, Michaela L. Gruzensky, Tomas S. Aleman, Sharon B. Schwartz, Alexander Sumaroka, Robert K. Koenekoop, Artur V. Cideciyan, Samuel G. Jacobson
Ophthalmic Genet. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Ophthalmic Genet. 2016 Sep; 37(3): 333–338. Published online 2016 Feb 8. doi: 10.3109/13816810.2015.1130154
PMCID:
PMC4988809
AbstractArticlePDF–1.1M
9.
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
10.
Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family
Anja-Kathrin Mayer, Muhammad Mahajnah, Ditta Zobor, Michael Bonin, Rajech Sharkia, Bernd Wissinger
Mol Vis. 2015; 21: 306–315. Published online 2015 Mar 15.
PMCID:
PMC4360169
AbstractArticlePDF–1.2M
11.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L. Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M. Wu, David S. Williams, Graeme Mardon, Ronald Roepman, Rui Chen
Hum Mol Genet. 2015 Mar 15; 24(6): 1584–1601. Published online 2014 Nov 14. doi: 10.1093/hmg/ddu573
PMCID:
PMC4351378
AbstractArticlePDF–1.7M
12.
The E3 Ubiquitin Ligase Thyroid Hormone Receptor-interacting Protein 12 Targets Pancreas Transcription Factor 1a for Proteasomal Degradation
Naïma Hanoun, Samuel Fritsch, Odile Gayet, Véronique Gigoux, Pierre Cordelier, Nelson Dusetti, Jérôme Torrisani, Marlène Dufresne
J Biol Chem. 2014 Dec 19; 289(51): 35593–35604. Published online 2014 Oct 29. doi: 10.1074/jbc.M114.620104
PMCID:
PMC4271242
AbstractArticlePDF–1.6M
13.
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
AbstractArticlePDF–3.9M
14.
Genetics of coronary artery calcification among African Americans, a meta-analysis
Mary K Wojczynski, Mingyao Li, Lawrence F Bielak, Kathleen F Kerr, Alex P Reiner, Nathan D Wong, Lisa R Yanek, Liming Qu, Charles C White, Leslie A Lange, Jane F Ferguson, Jing He, Taylor Young, Thomas H Mosley, Jennifer A Smith, Brian G Kral, Xiuqing Guo, Quenna Wong, Santhi K Ganesh, Susan R Heckbert, Michael E Griswold, Daniel H O’Leary, Matthew Budoff, J Jeffrey Carr, Herman A Taylor,, Jr., David A Bluemke, Serkalem Demissie, Shih-Jen Hwang, Dina N Paltoo, Joseph F Polak, Bruce M Psaty, Diane M Becker, Michael A Province, Wendy S Post, Christopher J O’Donnell, James G Wilson, Tamara B Harris, Maryam Kavousi, L Adrienne Cupples, Jerome I Rotter, Myriam Fornage, Lewis C Becker, Patricia A Peyser, Ingrid B Borecki, Muredach P Reilly
BMC Med Genet. 2013; 14: 75. Published online 2013 Jul 19. doi: 10.1186/1471-2350-14-75
PMCID:
PMC3733595
AbstractArticlePDF–884K
15.
Whole genome association scan for genetic polymorphisms influencing information processing speed
Michelle Luciano, Narelle K. Hansell, Jari Lahti, Gail Davies, Sarah E. Medland, Katri Räikkönen, Albert Tenesa, Elisabeth Widen, Kevin A. McGhee, Aarno Palotie, David Liewald, David J. Porteous, John M. Starr, Grant W. Montgomery, Nicholas G. Martin, Johan G. Eriksson, Margaret J. Wright, Ian J. Deary
Biol Psychol. Author manuscript; available in PMC 2012 Apr 4.
Published in final edited form as: Biol Psychol. 2011 Mar; 86(3): 193–202. Published online 2010 Dec 3. doi: 10.1016/j.biopsycho.2010.11.008
PMCID:
PMC3319015
AbstractArticlePDF–322K
16.
Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations
Lin Li, Xueshan Xiao, Shiqiang Li, Xiaodong Jiao, J. Fielding Hejtmancik, Qingjiong Zhang
Mol Vis. 2011; 17: 3326–3332. Published online 2011 Dec 16.
PMCID:
PMC3247167
AbstractArticlePDF–9.4M
17.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
18.
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
19.
Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen
Am J Hum Genet. 2009 Mar 13; 84(3): 380–387. doi: 10.1016/j.ajhg.2009.02.005
Correction in:
Am J Hum Genet. 2010 Feb 12; 86(2): 293.
PMCID:
PMC2668010
AbstractArticlePDF–610K
20.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K

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