PMC Links for OMIM (Select 600374) - PMC

Select item 32079101.

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

Select item 28987352.

The conserved Bardet-Biedl Syndrome proteins assemble a coat that traffics membrane proteins to cilia

Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, Maxence V. Nachury

Cell. Author manuscript; available in PMC 2011 Jun 25.

Published in final edited form as: Cell. 2010 Jun 25; 141(7): 1208–1219. doi: 10.1016/j.cell.2010.05.015

PMCID:: PMC2898735

Abstract Article PDF–2.1M

Select item 23938053.

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 22651934.

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 22620285.

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 20772896.

Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function

Perciliz L. Tan, Travis Barr, Peter N. Inglis, Norimasa Mitsuma, Susan M. Huang, Miguel A. Garcia-Gonzalez, Brian A. Bradley, Stephanie Coforio, Phillip J. Albrecht, Terry Watnick, Gregory G. Germino, Philip L. Beales, Michael J. Caterina, Michel R. Leroux, Frank L. Rice, Nicholas Katsanis

Proc Natl Acad Sci U S A. 2007 Oct 30; 104(44): 17524–17529. Published online 2007 Oct 24. doi: 10.1073/pnas.0706618104

PMCID:: PMC2077289

Abstract Article PDF–1.6M

Select item 4232527.

Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

Kirk Mykytyn, Robert F. Mullins, Michael Andrews, Annie P. Chiang, Ruth E. Swiderski, Baoli Yang, Terry Braun, Thomas Casavant, Edwin M. Stone, Val C. Sheffield

Proc Natl Acad Sci U S A. 2004 Jun 8; 101(23): 8664–8669. Published online 2004 Jun 1. doi: 10.1073/pnas.0402354101

PMCID:: PMC423252

Abstract Article PDF–735K

Select item 4130948.

Interference of nonsense mutations with eukaryotic messenger RNA stability.

R Losson, F Lacroute

Proc Natl Acad Sci U S A. 1979 Oct; 76(10): 5134–5137. doi: 10.1073/pnas.76.10.5134

PMCID:: PMC413094

Summary Page Browse PDF–746K

Select item 3849909.

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard Alan Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter J. Scambler, Philip L. Beales, James R. Lupski

Am J Hum Genet. 2002 Jul; 71(1): 22–29. Published online 2002 May 15. doi: 10.1086/341031

PMCID:: PMC384990

Abstract Article PDF–711K

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