PMC Links for Gene (Select 113948) - PMC

Select item 30062781.

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

Andreas M. Beyer, Deng-Fu Guo, Val C. Sheffield, Kamal Rahmouni

Am J Physiol Heart Circ Physiol. 2010 Dec; 299(6): H1902–H1907. Published online 2010 Sep 17. doi: 10.1152/ajpheart.00336.2010

PMCID:: PMC3006278

Abstract Article

Select item 22620282.

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

Kamal Rahmouni, Melissa A. Fath, Seongjin Seo, Daniel R. Thedens, Christopher J. Berry, Robert Weiss, Darryl Y. Nishimura, Val C. Sheffield

J Clin Invest. 2008 Apr 1; 118(4): 1458–1467. Published online 2008 Mar 3. doi: 10.1172/JCI32357

PMCID:: PMC2262028

Abstract Article PDF–1.0M

Select item 38458173.

Cartilage Abnormalities Associated with Defects of Chondrocytic Primary Cilia in Bardet-Biedl Syndrome Mutant Mice

Anjan P. Kaushik, James A. Martin, Qihong Zhang, Val C. Sheffield, Jose A. Morcuende

J Orthop Res. Author manuscript; available in PMC 2013 Dec 2.

Published in final edited form as: J Orthop Res. 2009 Aug; 27(8): 10.1002/jor.20855. doi: 10.1002/jor.20855

PMCID:: PMC3845817

Abstract Article PDF–1.8M

Select item 5345194.

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

Darryl Y. Nishimura, Melissa Fath, Robert F. Mullins, Charles Searby, Michael Andrews, Roger Davis, Jeaneen L. Andorf, Kirk Mykytyn, Ruth E. Swiderski, Baoli Yang, Rivka Carmi, Edwin M. Stone, Val C. Sheffield

Proc Natl Acad Sci U S A. 2004 Nov 23; 101(47): 16588–16593. Published online 2004 Nov 11. doi: 10.1073/pnas.0405496101

PMCID:: PMC534519

Abstract Article PDF–721K

Select item 23938055.

Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

Nicolas F. Berbari, Jacqueline S. Lewis, Georgia A. Bishop, Candice C. Askwith, Kirk Mykytyn

Proc Natl Acad Sci U S A. 2008 Mar 18; 105(11): 4242–4246. Published online 2008 Mar 11. doi: 10.1073/pnas.0711027105

PMCID:: PMC2393805

Abstract Article PDF–755K

Select item 21483056.

A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

Roger E. Davis, Ruth E. Swiderski, Kamal Rahmouni, Darryl Y. Nishimura, Robert F. Mullins, Khristofor Agassandian, Alisdair R. Philp, Charles C. Searby, Michael P. Andrews, Stewart Thompson, Christopher J. Berry, Daniel R. Thedens, Baoli Yang, Robert M. Weiss, Martin D. Cassell, Edwin M. Stone, Val C. Sheffield

Proc Natl Acad Sci U S A. 2007 Dec 4; 104(49): 19422–19427. Published online 2007 Nov 21. doi: 10.1073/pnas.0708571104

PMCID:: PMC2148305

Abstract Article PDF–1.1M

Select item 22651937.

Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

Alok S. Shah, Sara L. Farmen, Thomas O. Moninger, Thomas R. Businga, Michael P. Andrews, Kevin Bugge, Charles C. Searby, Darryl Nishimura, Kim A. Brogden, Joel N. Kline, Val C. Sheffield, Michael J. Welsh

Proc Natl Acad Sci U S A. 2008 Mar 4; 105(9): 3380–3385. Published online 2008 Feb 25. doi: 10.1073/pnas.0712327105

PMCID:: PMC2265193

Abstract Article PDF–1.2M

Select item 26557738.

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

Seongjin Seo, Deng-Fu Guo, Kevin Bugge, Donald A. Morgan, Kamal Rahmouni, Val C. Sheffield

Hum Mol Genet. 2009 Apr 1; 18(7): 1323–1331. Published online 2009 Jan 15. doi: 10.1093/hmg/ddp031

PMCID:: PMC2655773

Abstract Article PDF–434K

Select item 33152039.

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Qihong Zhang, Seongjin Seo, Kevin Bugge, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2012 May 1; 21(9): 1945–1953. Published online 2012 Jan 6. doi: 10.1093/hmg/dds004

PMCID:: PMC3315203

Abstract Article PDF–301K

Select item 430299810.

Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea

Helen L. May-Simera, Ronald S. Petralia, Mireille Montcouquiol, Ya-Xian Wang, Katherine B. Szarama, Yun Liu, Weichun Lin, Michael R. Deans, Gregory J. Pazour, Matthew W. Kelley

Development. 2015 Feb 1; 142(3): 555–566. doi: 10.1242/dev.113696

PMCID:: PMC4302998

Abstract Article

Select item 328387311.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano

J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375

PMCID:: PMC3283873

Abstract Article

Select item 320791012.

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 325114513.

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