PMC Links for Gene (Select 315484) - PMC

Select item 12851601.

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Am J Hum Genet. 2005 Dec; 77(6): 1021–1033. Published online 2005 Oct 26. doi: 10.1086/498323

PMCID:: PMC1285160

Abstract Article PDF–1.6M

Select item 37363222.

A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M. Justice, Garima Yagnik, Yoonhee Kim, Inga Peter, Ethylin Wang Jabs, Monica Erazo, Xiaoqian Ye, Edmond Ainehsazan, Lisong Shi, Michael L. Cunningham, Virginia Kimonis, Tony Roscioli, Steven A. Wall, Andrew O.M. Wilkie, Joan Stoler, Joan T. Richtsmeier, Yann Heuzé, Pedro A. Sanchez-Lara, Michael F. Buckley, Charlotte M. Druschel, James L. Mills, Michele Caggana, Paul A. Romitti, Denise M. Kay, Craig Senders, Peter J. Taub, Ophir D. Klein, James Boggan, Marike Zwienenberg-Lee, Cyril Naydenov, Jinoh Kim, Alexander F. Wilson, Simeon A. Boyadjiev

Nat Genet. Author manuscript; available in PMC 2013 Aug 7.

Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1360–1364. Published online 2012 Nov 18. doi: 10.1038/ng.2463

PMCID:: PMC3736322

Abstract Article PDF–2.2M

Select item 33155323.

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

Shobi Veleri, Kevin Bishop, Damian E. Dalle Nogare, Milton A. English, Trevor J. Foskett, Ajay Chitnis, Raman Sood, Paul Liu, Anand Swaroop

PLoS One. 2012; 7(3): e34389. Published online 2012 Mar 29. doi: 10.1371/journal.pone.0034389

PMCID:: PMC3315532

Abstract Article PDF–5.0M

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 32079105.

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

Seongjin Seo, Qihong Zhang, Kevin Bugge, David K. Breslow, Charles C. Searby, Maxence V. Nachury, Val C. Sheffield

PLoS Genet. 2011 Nov; 7(11): e1002358. Published online 2011 Nov 3. doi: 10.1371/journal.pgen.1002358

PMCID:: PMC3207910

Abstract Article PDF–6.1M

Select item 32511456.

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Qihong Zhang, Darryl Nishimura, Seongjin Seo, Tim Vogel, Donald A. Morgan, Charles Searby, Kevin Bugge, Edwin M. Stone, Kamal Rahmouni, Val C. Sheffield

Proc Natl Acad Sci U S A. 2011 Dec 20; 108(51): 20678–20683. Published online 2011 Dec 2. doi: 10.1073/pnas.1113220108