PMC Links for Nucleotide (Select 170650592) - PMC

Select item 55032611.

Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program

John P. Sundberg, Soheil S. Dadras, Kathleen A. Silva, Victoria E. Kennedy, Gaven Garland, Stephen A. Murray, Beth A. Sundberg, Paul N. Schofield, C. Herbert Pratt

PLoS One. 2017; 12(7): e0180682. Published online 2017 Jul 10. doi: 10.1371/journal.pone.0180682

PMCID:: PMC5503261

Abstract Article PDF–31M

Select item 52958212.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 39236833.

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

Xitiz Chamling, Seongjin Seo, Charles C. Searby, GunHee Kim, Diane C. Slusarski, Val C. Sheffield

PLoS Genet. 2014 Feb; 10(2): e1004083. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004083

PMCID:: PMC3923683

Abstract Article PDF–1.6M

Select item 38579434.

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 11802405.

Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

José L. Badano, Stephen J. Ansley, Carmen C. Leitch, Richard Alan Lewis, James R. Lupski, Nicholas Katsanis

Am J Hum Genet. 2003 Mar; 72(3): 650–658. Published online 2003 Feb 3. doi: 10.1086/368204

PMCID:: PMC1180240

Abstract Article PDF–1.0M

Select item 4435246.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

Oliver E. Blacque, Michael J. Reardon, Chunmei Li, Jonathan McCarthy, Moe R. Mahjoub, Stephen J. Ansley, Jose L. Badano, Allan K. Mah, Philip L. Beales, William S. Davidson, Robert C. Johnsen, Mark Audeh, Ronald H.A. Plasterk, David L. Baillie, Nicholas Katsanis, Lynne M. Quarmby, Stephen R. Wicks, Michel R. Leroux

Genes Dev. 2004 Jul 1; 18(13): 1630–1642. doi: 10.1101/gad.1194004

PMCID:: PMC443524

Abstract Article PDF–327K

Select item 4397837.

Genomic Analysis of Mouse Retinal Development

Seth Blackshaw, Sanjiv Harpavat, Jeff Trimarchi, Li Cai, Haiyan Huang, Winston P Kuo, Griffin Weber, Kyungjoon Lee, Rebecca E Fraioli, Seo-Hee Cho, Rachel Yung, Elizabeth Asch, Lucila Ohno-Machado, Wing H Wong, Constance L Cepko

PLoS Biol. 2004 Sep; 2(9): e247. Published online 2004 Jun 29. doi: 10.1371/journal.pbio.0020247

PMCID:: PMC439783

Abstract Article PDF–975K

Select item 43932798.

Characterization of Tetratricopeptide Repeat-Containing Proteins Critical for Cilia Formation and Function

Yanan Xu, Jingli Cao, Shan Huang, Di Feng, Wei Zhang, Xueliang Zhu, Xiumin Yan

PLoS One. 2015; 10(4): e0124378. Published online 2015 Apr 10. doi: 10.1371/journal.pone.0124378

PMCID:: PMC4393279

Abstract Article PDF–11M

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