PMC Links for Protein (Select 116242609) - PMC

Select item 41061401.

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

Abstract Article PDF–2.2M

Select item 31909392.

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

Abstract Article PDF–2.1M

Select item 28829613.

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A. P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung-Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J. T. Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap-Chee Tsui

Science. Author manuscript; available in PMC 2010 Jun 9.

Published in final edited form as: Science. 2003 May 2; 300(5620): 767–772. Published online 2003 Apr 10. doi: 10.1126/science.1083423

PMCID:: PMC2882961

Abstract Article PDF–1.2M

Select item 26949744.

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

Abstract Article PDF–1.0M

Select item 22136765.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399

PMCID:: PMC2213676

Abstract Article PDF–939K

Select item 5289286.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 3110727.

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

Abstract Article PDF–542K

Select item 50054688.

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

Abstract Article PDF–2.0M

Select item 47195429.

Combining patient proteomics and in vitro cardiomyocyte phenotype testing to identify potential mediators of heart failure with preserved ejection fraction

Roseanne Raphael, Diana Purushotham, Courtney Gastonguay, Marla A. Chesnik, Wai-Meng Kwok, Hsiang-En Wu, Sanjiv J. Shah, Shama P. Mirza, Jennifer L. Strande

J Transl Med. 2016; 14: 18. Published online 2016 Jan 20. doi: 10.1186/s12967-016-0774-3

PMCID:: PMC4719542

Abstract Article PDF–1.2M

Select item 359781910.

Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases

Peter Canning, Christopher D. O. Cooper, Tobias Krojer, James W. Murray, Ashley C. W. Pike, Apirat Chaikuad, Tracy Keates, Chancievan Thangaratnarajah, Viktorija Hojzan, Brian D. Marsden, Opher Gileadi, Stefan Knapp, Frank von Delft, Alex N. Bullock

J Biol Chem. 2013 Mar 15; 288(11): 7803–7814. Published online 2013 Jan 24. doi: 10.1074/jbc.M112.437996

Correction in:: J Biol Chem. 2013 Sep 27; 288(39): 28304.

PMCID:: PMC3597819

Abstract Article PDF–3.9M

Select item 319936711.

Oxidative stress induced carbonylation in human plasma

Ashraf G. Madian, Naomi Diaz-Maldonado, Qiang Gao, Fred E. Regnier

J Proteomics. Author manuscript; available in PMC 2012 Oct 19.

Published in final edited form as: J Proteomics. 2011 Oct 19; 74(11): 2395–2416. Published online 2011 Jul 30. doi: 10.1016/j.jprot.2011.07.014

PMCID:: PMC3199367

Abstract Article PDF–1.0M

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