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Items: 1 to 20 of 25

1.
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D’Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell’Orco, Matteo Bertelli
Int J Mol Sci. 2021 Jan; 22(1): 381. Published online 2020 Dec 31. doi: 10.3390/ijms22010381
PMCID:
PMC7795990
AbstractArticlePDF–9.2M
2.
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
Cathrine Jespersgaard, Amalie Brunbjerg Hey, Tomas Ilginis, Tina Duelund Hjortshøj, Mingyan Fang, Mette Bertelsen, Niels Bech, Hanne Jensen, Lasse Jonsgaard Larsen, Zeynep Tümer, Thomas Rosenberg, Karen Brøndum-Nielsen, Lisbeth Birk Møller, Karen Grønskov
Invest Ophthalmol Vis Sci. 2020 Feb; 61(2): 29. Published online 2020 Feb 21. doi: 10.1167/iovs.61.2.29
PMCID:
PMC7326575
AbstractArticlePDF–1.2M
3.
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy
Rosa Riveiro-Álvarez, Yajing (Angela) Xie, Miguel-Ángel López-Martínez, Tomasz Gambin, Raquel Pérez-Carro, Almudena Ávila-Fernández, María-Isabel López-Molina, Jana Zernant, Shalini Jhangiani, Donna Muzny, Bo Yuan, Eric Boerwinkle, Richard Gibbs, James R. Lupski, Carmen Ayuso, Rando Allikmets
JAMA Ophthalmol. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: JAMA Ophthalmol. 2015 Feb 1; 133(2): 133–139. doi: 10.1001/jamaophthalmol.2014.4266
PMCID:
PMC4351871
AbstractArticlePDF–701K
4.
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
Susanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, Dror Sharon, Nicole Weisschuh, Jennifer Staller, Susanne Kohl, Lina Zelinger, Theo A. Peters, Kornelia Neveling, Tim M. Strom, European Retinal Disease Consortium, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C.W. Klaver, Ronald Roepman, Bernd Wissinger, Eyal Banin, Frans P.M. Cremers, Anneke I. den Hollander
Am J Hum Genet. 2013 Jul 11; 93(1): 110–117. doi: 10.1016/j.ajhg.2013.05.005
PMCID:
PMC3710761
AbstractArticlePDF–1.1M
5.
Large Nucleotide-Dependent Conformational Change in Rab28
Sung Haeng Lee, Kyuwon Baek, Roberto Dominguez
FEBS Lett. Author manuscript; available in PMC 2009 Sep 10.
Published in final edited form as: FEBS Lett. 2008 Dec 10; 582(29): 4107–4111. Published online 2008 Nov 19. doi: 10.1016/j.febslet.2008.11.008
PMCID:
PMC2741181
AbstractArticlePDF–2.4M
6.
Towards Complete Sets of Farnesylated and Geranylgeranylated Proteins
Sebastian Maurer-Stroh, Manfred Koranda, Wolfgang Benetka, Georg Schneider, Fernanda L Sirota, Frank Eisenhaber
PLoS Comput Biol. 2007 Apr; 3(4): e66. Prepublished online 2007 Feb 23. Published online 2007 Apr 6. doi: 10.1371/journal.pcbi.0030066
PMCID:
PMC1847700
AbstractArticlePDF–1.3M
7.
Genome-Wide Association Study of Periodontal Health Measured by Probing Depth in Adults Ages 18−49 years
John R. Shaffer, Deborah E. Polk, Xiaojing Wang, Eleanor Feingold, Daniel E. Weeks, Myoung-Keun Lee, Karen T. Cuenco, Robert J. Weyant, Richard J. Crout, Daniel W. McNeil, Mary L. Marazita
G3 (Bethesda) 2014 Feb; 4(2): 307–314. Published online 2013 Dec 17. doi: 10.1534/g3.113.008755
PMCID:
PMC3931564
AbstractArticlePDF–1.2M
8.
The Rab GTPase family
Harald Stenmark, Vesa M Olkkonen
Genome Biol. 2001; 2(5): reviews3007.1–reviews3007.7. Published online 2001 Apr 27. doi: 10.1186/gb-2001-2-5-reviews3007
PMCID:
PMC138937
AbstractArticlePDF–521K
9.
Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors
Shin-ichiro Yoshimura, Andreas Gerondopoulos, Andrea Linford, Daniel J. Rigden, Francis A. Barr
J Cell Biol. 2010 Oct 18; 191(2): 367–381. doi: 10.1083/jcb.201008051
PMCID:
PMC2958468
AbstractArticlePDF–9.0M
10.
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
11.
Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family
Xu Li, Kim My Tran, Kathryn E. Aziz, Alexey V. Sorokin, Junjie Chen, Wenqi Wang
Mol Cell Proteomics. 2016 Sep; 15(9): 3030–3044. Published online 2016 Jul 18. doi: 10.1074/mcp.M116.060277
PMCID:
PMC5013315
AbstractArticlePDF–3.2M
12.
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
13.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
14.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
15.
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
16.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
17.
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling
Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin
Cell Rep. Author manuscript; available in PMC 2019 Jun 26.
Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060
PMCID:
PMC6594551
AbstractArticlePDF–1.4M
18.
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
19.
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
20.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M

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