PMC Links for GEO Profiles (Select 12002201) - PMC

Select item 55500101.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

Charles Anthony Scott, Autumn N. Marsden, Michael R. Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C. Searby, Lisa M. Baye, Val C. Sheffield, Diane C. Slusarski

PLoS Genet. 2017 Jul; 13(7): e1006936. Published online 2017 Jul 28. doi: 10.1371/journal.pgen.1006936

PMCID:: PMC5550010

Abstract Article PDF–37M

Select item 38458172.

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 37661803.

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L. Beales

Hum Mol Genet. 2013 Oct 1; 22(19): 3858–3868. Published online 2013 May 27. doi: 10.1093/hmg/ddt241

PMCID:: PMC3766180

Abstract Article PDF–1.6M

Select item 33144684.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Rivka A. Rachel, Helen L. May-Simera, Shobi Veleri, Norimoto Gotoh, Byung Yoon Choi, Carlos Murga-Zamalloa, Jeremy C. McIntyre, Jonah Marek, Irma Lopez, Alice N. Hackett, Matthew Brooks, Anneke I. den Hollander, Philip L. Beales, Tiansen Li, Samuel G. Jacobson, Raman Sood, Jeffrey R. Martens, Paul Liu, Thomas B. Friedman, Hemant Khanna, Robert K. Koenekoop, Matthew W. Kelley, Anand Swaroop

J Clin Invest. 2012 Apr 2; 122(4): 1233–1245. Published online 2012 Mar 26. doi: 10.1172/JCI60981

Correction in:: J Clin Invest. 2012 Aug 1; 122(8): 3025.

PMCID:: PMC3314468

Abstract Article PDF–1.6M

Select item 32838735.

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 31780596.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 30062787.

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 28469308.

Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes

Krishanu Mukherjee, Everly Conway de Macario, Alberto JL Macario, Luciano Brocchieri

BMC Evol Biol. 2010; 10: 64. Published online 2010 Mar 1. doi: 10.1186/1471-2148-10-64

PMCID:: PMC2846930

Abstract Article PDF–1.2M

Select item 28243909.

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Seongjin Seo, Lisa M. Baye, Nathan P. Schulz, John S. Beck, Qihong Zhang, Diane C. Slusarski, Val C. Sheffield

Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4): 1488–1493. Published online 2010 Jan 6. doi: 10.1073/pnas.0910268107

PMCID:: PMC2824390

Abstract Article PDF–1009K

Select item 265577310.

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 237332711.

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome

Jonathan L. Tobin, Matt Di Franco, Erica Eichers, Helen May-Simera, Monica Garcia, Jiong Yan, Robyn Quinlan, Monica J. Justice, Raoul C. Hennekam, James Briscoe, Masazumi Tada, Roberto Mayor, Alan J. Burns, James R. Lupski, Peter Hammond, Philip L. Beales

Proc Natl Acad Sci U S A. 2008 May 6; 105(18): 6714–6719. Published online 2008 Apr 28. doi: 10.1073/pnas.0707057105

PMCID:: PMC2373327

Abstract Article PDF–1.1M

Select item 226519312.

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 226202813.

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 214830514.

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 13924115.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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