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Items: 16

1.
Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations
Anna M. Clark, Dongmei Yu, Grace Neiswanger, Daniel Zhu, Junhuang Zou, J. Alan Maschek, Thomas Burgoyne, Jun Yang
JCI Insight. 2024 Jan 9; 9(1): e162621. Published online 2024 Jan 9. doi: 10.1172/jci.insight.162621
PMCID:
PMC10906455
AbstractArticlePDF–6.6M
2.
Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival
Yu Liu, Jinjun Chen, Rachel Sager, Erika Sasaki, Huaiyu Hu
Int J Mol Sci. 2022 Oct; 23(19): 12033. Published online 2022 Oct 10. doi: 10.3390/ijms231912033
PMCID:
PMC9570145
AbstractArticlePDF–15M
3.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
4.
siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference
Zhiming Fang, Zhongming Zhao, Valsamma Eapen, Raymond A. Clarke
Genes (Basel) 2021 Aug; 12(8): 1290. Published online 2021 Aug 23. doi: 10.3390/genes12081290
PMCID:
PMC8393430
AbstractArticlePDF–2.5M
5.
Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells
Seung W. Ryu, Rose Stewart, D. Chase Pectol, Nicolette A. Ender, Oshadi Wimalarathne, Ji-Hoon Lee, Carlos P. Zanini, Antony Harvey, Jon M. Huibregtse, Peter Mueller, Tanya T. Paull
PLoS Biol. 2020 Jul; 18(7): e3000606. Published online 2020 Jul 20. doi: 10.1371/journal.pbio.3000606
PMCID:
PMC7392334
AbstractArticlePDF–2.7M
6.
C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis
Ali S. Sharif, Dongmei Yu, Stuart Loertscher, Richard Austin, Kevin Nguyen, Pranav D. Mathur, Anna M. Clark, Junhuang Zou, Ekaterina S. Lobanova, Vadim Y. Arshavsky, Jun Yang
J Neurosci. 2018 Mar 28; 38(13): 3160–3176. doi: 10.1523/JNEUROSCI.2964-17.2018
PMCID:
PMC5884456
AbstractArticlePDF–7.4M
7.
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)
Elise Heon, Gunhee Kim, Sophie Qin, Janelle E. Garrison, Erika Tavares, Ajoy Vincent, Nina Nuangchamnong, C. Anthony Scott, Diane C. Slusarski, Val C. Sheffield
Hum Mol Genet. 2016 Jun 1; 25(11): 2283–2294. Published online 2016 Mar 22. doi: 10.1093/hmg/ddw096
PMCID:
PMC5081059
AbstractArticlePDF–954K
8.
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
9.
Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage
Romain Drissi, Marie-Line Dubois, Mélanie Douziech, François-Michel Boisvert
Mol Cell Proteomics. 2015 Jul; 14(7): 2002–2013. Published online 2015 May 11. doi: 10.1074/mcp.M115.048991
PMCID:
PMC4587322
AbstractArticlePDF–3.0M
10.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin
Zeinab Ravesh, Mohammed E. El Asrag, Nicole Weisschuh, Martin McKibbin, Peggy Reuter, Christopher M. Watson, Britta Baumann, James A. Poulter, Sundus Sajid, Evangelia S. Panagiotou, James O’Sullivan, Zakia Abdelhamed, Michael Bonin, Mehdi Soltanifar, Graeme C.M. Black, Muhammad Amin-ud Din, Carmel Toomes, Muhammad Ansar, Chris F. Inglehearn, Bernd Wissinger, Manir Ali
Mol Vis. 2015; 21: 236–243. Published online 2015 Mar 7.
PMCID:
PMC4357040
AbstractArticlePDF–1.1M
11.
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
AbstractArticlePDF–130K
12.
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael P. Kwint, Sabine J. Gijsen, Ramon A.C. van Huet, Rob W.J. Collin, H. Scheffer, Joris A. Veltman, Eberhart Zrenner, the European Retinal Disease Consortium, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers
Am J Hum Genet. 2012 Jan 13; 90(1): 102–109. doi: 10.1016/j.ajhg.2011.11.015
PMCID:
PMC3257957
AbstractArticlePDF–867K
13.
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
14.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
15.
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
16.
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
AbstractArticlePDF–118K

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