PMC Links for Protein (Select 118595720) - PMC

Select item 38579431.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C. Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2014 Jan 1; 23(1): 40–51. Published online 2013 Aug 13. doi: 10.1093/hmg/ddt394

PMCID:: PMC3857943

Abstract Article PDF–1.7M

Select item 33830652.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 31450113.

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter

Nat Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 776–784. Published online 2011 Jul 3. doi: 10.1038/ng.891

PMCID:: PMC3145011

Abstract Article PDF–2.3M

Select item 31106394.

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Madeline A. Lancaster, Dipika J. Gopal, Joon Kim, Sahar N. Saleem, Jennifer L. Silhavy, Carrie M. Louie, Bryan E. Thacker, Yuko Williams, Maha S. Zaki, Joseph G. Gleeson

Nat Med. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Nat Med. 2011 Jun; 17(6): 726–731. Published online 2011 May 29. doi: 10.1038/nm.2380

PMCID:: PMC3110639

Abstract Article PDF–1.6M

Select item 30359695.

A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression

Edward L. Huttlin, Mark P. Jedrychowski, Joshua E. Elias, Tapasree Goswami, Ramin Rad, Sean A. Beausoleil, Judit Villén, Wilhelm Haas, Mathew E. Sowa, Steven P. Gygi

Cell. Author manuscript; available in PMC 2011 Dec 23.

Published in final edited form as: Cell. 2010 Dec 23; 143(7): 1174–1189. doi: 10.1016/j.cell.2010.12.001

PMCID:: PMC3035969

Abstract Article PDF–2.6M

Select item 26803416.

Lineage-Specific Biology Revealed by a Finished Genome Assembly of the Mouse

Deanna M. Church, Leo Goodstadt, LaDeana W. Hillier, Michael C. Zody, Steve Goldstein, Xinwe She, Carol J. Bult, Richa Agarwala, Joshua L. Cherry, Michael DiCuccio, Wratko Hlavina, Yuri Kapustin, Peter Meric, Donna Maglott, Zoë Birtle, Ana C. Marques, Tina Graves, Shiguo Zhou, Brian Teague, Konstantinos Potamousis, Christopher Churas, Michael Place, Jill Herschleb, Ron Runnheim, Daniel Forrest, James Amos-Landgraf, David C. Schwartz, Ze Cheng, Kerstin Lindblad-Toh, Evan E. Eichler, Chris P. Ponting, The Mouse Genome Sequencing Consortium

PLoS Biol. 2009 May; 7(5): e1000112. Published online 2009 May 26. doi: 10.1371/journal.pbio.1000112

PMCID:: PMC2680341

Abstract Article PDF–1006K

Select item 15925507.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Bo Chang, Hemant Khanna, Norman Hawes, David Jimeno, Shirley He, Concepcion Lillo, Sunil K. Parapuram, Hong Cheng, Alison Scott, Ron E. Hurd, John A. Sayer, Edgar A. Otto, Massimo Attanasio, John F. O’Toole, Genglin Jin, Chengchao Shou, Friedhelm Hildebrandt, David S. Williams, John R. Heckenlively, Anand Swaroop

Hum Mol Genet. Author manuscript; available in PMC 2006 Oct 10.

Published in final edited form as: Hum Mol Genet. 2006 Jun 1; 15(11): 1847–1857. Published online 2006 Apr 21. doi: 10.1093/hmg/ddl107

PMCID:: PMC1592550

Abstract Article PDF–1.8M

Select item 50610448.

The Brain Proteome of the Ubiquitin Ligase Peli1 Knock-Out Mouse during Experimental Autoimmune Encephalomyelitis

Ragnhild Reehorst Lereim, Eystein Oveland, Yichuan Xiao, Øivind Torkildsen, Stig Wergeland, Kjell-Morten Myhr, Shao-Cong Sun, Frode S Berven

J Proteomics Bioinform. Author manuscript; available in PMC 2016 Oct 12.

Published in final edited form as: J Proteomics Bioinform. 2016 Sep; 9(9): 209–219. Published online 2016 Sep 12. doi: 10.4172/jpb.1000408

PMCID:: PMC5061044

Abstract Article PDF–1.5M

Select item 44593949.

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

Rivka A. Rachel, Erin A. Yamamoto, Mrinal K. Dewanjee, Helen L. May-Simera, Yuri V. Sergeev, Alice N. Hackett, Katherine Pohida, Jeeva Munasinghe, Norimoto Gotoh, Bill Wickstead, Robert N. Fariss, Lijin Dong, Tiansen Li, Anand Swaroop

Hum Mol Genet. 2015 Jul 1; 24(13): 3775–3791. Published online 2015 Apr 9. doi: 10.1093/hmg/ddv123

PMCID:: PMC4459394

Abstract Article PDF–2.5M

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