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Items: 1 to 20 of 29

1.
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Jr, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Orphanet J Rare Dis. 2019; 14: 295. Published online 2019 Dec 19. doi: 10.1186/s13023-019-1275-2
PMCID:
PMC6924004
ArticlePDF–2.1M
2.
Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7
Yuquan Wen, Kirsten G. Locke, Martin Klein, Sara J. Bowne, Lori S. Sullivan, Joseph W. Ray, Stephen P. Daiger, David G. Birch, Dianna K. Hughbanks-Wheaton
Arch Ophthalmol. Author manuscript; available in PMC 2014 Jul 22.
Published in final edited form as: Arch Ophthalmol. 2011 Nov; 129(11): 1475–1482. doi: 10.1001/archophthalmol.2011.307
PMCID:
PMC4106140
ArticlePDF–2.2M
3.
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
James S. Friedman, Joseph W. Ray, Naushin Waseem, Kory Johnson, Matthew J. Brooks, Therése Hugosson, Debra Breuer, Kari E. Branham, Daniel S. Krauth, Sara J. Bowne, Lori S. Sullivan, Vesna Ponjavic, Lotta Gränse, Ritu Khanna, Edward H. Trager, Linn M. Gieser, Dianna Hughbanks-Wheaton, Radu I. Cojocaru, Noor M. Ghiasvand, Christina F. Chakarova, Magnus Abrahamson, Harald H.H. Göring, Andrew R. Webster, David G. Birch, Goncalo R. Abecasis, Yang Fann, Shomi S. Bhattacharya, Stephen P. Daiger, John R. Heckenlively, Sten Andréasson, Anand Swaroop
Am J Hum Genet. 2009 Jun 12; 84(6): 792–800. doi: 10.1016/j.ajhg.2009.05.007
PMCID:
PMC2694974
ArticlePDF–1.0M
4.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M.E. Smit, Ilyas Okur, Koray Boduroglu, Gülen Eda Utine, Esra Kılıç, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch
Am J Hum Genet. 2016 Jul 7; 99(1): 236–245. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.026
Correction in:
Am J Hum Genet. 2018 Apr 5; 102(4): 713.
PMCID:
PMC5005468
ArticlePDF–2.0M
5.
Ubiquitin Ligase Activity of Cul3-KLHL7 Protein Is Attenuated by Autosomal Dominant Retinitis Pigmentosa Causative Mutation
Yu Kigoshi, Fuminori Tsuruta, Tomoki Chiba
J Biol Chem. 2011 Sep 23; 286(38): 33613–33621. Published online 2011 Aug 2. doi: 10.1074/jbc.M111.245126
PMCID:
PMC3190939
ArticlePDF–2.1M
6.
Update on the Kelch-like (KLHL) gene family
Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford, James S Friedman
Hum Genomics. 2013; 7(1): 13. Published online 2013 May 15. doi: 10.1186/1479-7364-7-13
PMCID:
PMC3658946
ArticlePDF–1.3M
7.
Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation
Bethany Mason, Susanne Flach, Felipe R. Teixeira, Raquel Manzano Garcia, Oscar M. Rueda, Jean E. Abraham, Carlos Caldas, Paul A. W. Edwards, Heike Laman
Cell Mol Life Sci. 2020; 77(13): 2605–2620. Published online 2019 Sep 27. doi: 10.1007/s00018-019-03306-y
PMCID:
PMC7320043
ArticlePDF–2.5M
8.
A Novel CUL3 Variant causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase activity
Harish E. Chatrathi, Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl, Achim Werner, Prashant Sharma
Hypertension. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Hypertension. 2022 Jan; 79(1): 60–75. Published online 2021 Dec 2. doi: 10.1161/HYPERTENSIONAHA.121.17624
PMCID:
PMC8667186
ArticlePDF–1.6M
9.
A protein network map of head and neck cancer reveals PIK3CA mutant drug sensitivity
Danielle L. Swaney, Dana J. Ramms, Zhiyong Wang, Jisoo Park, Yusuke Goto, Margaret Soucheray, Neil Bhola, Kyumin Kim, Fan Zheng, Yan Zeng, Michael McGregor, Kari A. Herrington, Rachel O’Keefe, Nan Jin, Nathan K. VanLandingham, Helene Foussard, John Von Dollen, Mehdi Bouhaddou, David Jimenez-Morales, Kirsten Obernier, Jason F. Kreisberg, Minkyu Kim, Daniel E. Johnson, Natalia Jura, Jennifer R. Grandis, J. Silvio Gutkind, Trey Ideker, Nevan J. Krogan
Science. Author manuscript; available in PMC 2022 Apr 13.
Published in final edited form as: Science. 2021 Oct; 374(6563): eabf2911. Published online 2021 Oct 1. doi: 10.1126/science.abf2911
PMCID:
PMC9005332
ArticlePDF–2.0M
10.
A whole genome screen for HIV restriction factors
Li Liu, Nidia MM Oliveira, Kelly M Cheney, Corinna Pade, Hanna Dreja, Ann-Marie H Bergin, Viola Borgdorff, David H Beach, Cleo L Bishop, Matthias T Dittmar, Áine McKnight
Retrovirology. 2011; 8: 94. Published online 2011 Nov 14. doi: 10.1186/1742-4690-8-94
PMCID:
PMC3228845
ArticlePDF–640K
11.
Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation
Daniel C. Scott, David Y. Rhee, David M. Duda, Ian R. Kelsall, Jennifer L. Olszewski, Joao A. Paulo, Annemieke de Jong, Huib Ovaa, Arno F. Alpi, J. Wade Harper, Brenda A. Schulman
Cell. Author manuscript; available in PMC 2017 Aug 25.
Published in final edited form as: Cell. 2016 Aug 25; 166(5): 1198–1214.e24. doi: 10.1016/j.cell.2016.07.027
PMCID:
PMC5091668
ArticlePDF–4.2M
12.
A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition
Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington
Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331
PMCID:
PMC8045932
ArticlePDF–1.9M
13.
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing
Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann
EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058
PMCID:
PMC1083732
ArticlePDF–375K
14.
A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation
Yulemi Gonzalez Quesada, Luc DesGroseillers
Int J Mol Sci. 2022 Oct; 23(19): 11588. Published online 2022 Sep 30. doi: 10.3390/ijms231911588
PMCID:
PMC9569955
ArticlePDF–2.1M
15.
Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs
Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka
Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701
PMCID:
PMC311072
ArticlePDF–542K
16.
The human cytoplasmic dynein interactome reveals novel activators of motility
William B Redwine, Morgan E DeSantis, Ian Hollyer, Zaw Min Htet, Phuoc Tien Tran, Selene K Swanson, Laurence Florens, Michael P Washburn, Samara L Reck-Peterson
eLife. 2017; 6: e28257. Published online 2017 Jul 18. doi: 10.7554/eLife.28257
PMCID:
PMC5533585
ArticlePDF–5.9M
17.
Targeting USP10 induces degradation of oncogenic ANLN in esophageal squamous cell carcinoma
Yu-Fei Cao, Lei Xie, Bei-Bei Tong, Man-Yu Chu, Wen-Qi Shi, Xiang Li, Jian-Zhong He, Shao-Hong Wang, Zhi-Yong Wu, Dan-Xia Deng, Ya-Qi Zheng, Zhi-Mao Li, Xiu-E Xu, Lian-Di Liao, Yin-Wei Cheng, Li-Yan Li, Li-Yan Xu, En-Min Li
Cell Death Differ. 2023 Feb; 30(2): 527–543. Published online 2022 Dec 16. doi: 10.1038/s41418-022-01104-x
PMCID:
PMC9950447
ArticlePDF–8.4M
18.
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
ArticlePDF–3.0M
19.
BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression
Lei Yu, Natee Jearawiriyapaisarn, Mary P. Lee, Tomonori Hosoya, Qingqing Wu, Greggory Myers, Kim-Chew Lim, Ryo Kurita, Yukio Nakamura, Anne B. Vojtek, Jean-François Rual, James Douglas Engel
Genes Dev. 2018 Dec 1; 32(23-24): 1537–1549. doi: 10.1101/gad.318436.118
PMCID:
PMC6295165
ArticlePDF–3.5M
20.
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
ArticlePDF–2.0M

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