PMC Links for GEO Profiles (Select 39452761) - PMC

Select item 80652141.

BBSome ablation in SF1 neurons causes obesity without comorbidities

Mohamed Rouabhi, Deng-Fu Guo, Donald A. Morgan, Zhiyong Zhu, Miguel López, Leonid Zingman, Justin L. Grobe, Kamal Rahmouni

Mol Metab. 2021 Jun; 48: 101211. Published online 2021 Mar 13. doi: 10.1016/j.molmet.2021.101211

PMCID:: PMC8065214

Abstract Article PDF–2.0M

Select item 52704782.

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

Boyan Zhang, Gang Wang, Xiaowei Xu, Sisi Yang, Tenghan Zhuang, Guopeng Wang, He Ren, Steven Y. Cheng, Qing Jiang, Chuanmao Zhang

J Biol Chem. 2017 Jan 27; 292(4): 1351–1360. Published online 2016 Dec 15. doi: 10.1074/jbc.M116.765438

PMCID:: PMC5270478

Abstract Article PDF–3.3M

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 38458175.

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 36840486.

Abnormal development of NG2⁺PDGFRa⁺ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Calvin S. Carter, Timothy W. Vogel, Qihong Zhang, Seongjin Seo, Ruth E. Swiderski, Thomas O. Moninger, Martin D. Cassell, Daniel R. Thedens, Kim M. Keppler-Noreuil, Peggy Nopoulos, Darryl Y. Nishimura, Charles C. Searby, Kevin Bugge, Val C. Sheffield

Nat Med. Author manuscript; available in PMC 2013 Jun 17.

Published in final edited form as: Nat Med. 2012 Dec; 18(12): 1797–1804. Published online 2012 Nov 18. doi: 10.1038/nm.2996

PMCID:: PMC3684048

Abstract Article PDF–1.4M

Select item 33702467.

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield

J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487

PMCID:: PMC3370246

Abstract Article PDF–2.3M

Select item 33152038.

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 32838739.

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 320791010.

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 317805911.

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 308877412.

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

Koko Ishizuka, Atsushi Kamiya, Edwin C. Oh, Hiroaki Kanki, Saurav Seshadri, Jon F. Robinson, Hannah Murdoch, Allan J. Dunlop, Ken-ichiro Kubo, Keiko Furukori, Beverly Huang, Mariela Zeledon, Akiko Hayashi-Takagi, Hideyuki Okano, Kazunori Nakajima, Miles D. Houslay, Nicholas Katsanis, Akira Sawa

Nature. Author manuscript; available in PMC 2011 Nov 5.

Published in final edited form as: Nature. 2011 May 5; 473(7345): 92–96. Published online 2011 Apr 6. doi: 10.1038/nature09859

PMCID:: PMC3088774

Abstract Article PDF–2.1M

Select item 282439013.

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 272792814.

PCM1 is recruited to the centrosome by the cooperative action of DISC1 and BBS4 and is a candidate for psychiatric illness

Atsushi Kamiya, Perciliz L. Tan, Ken-ichiro Kubo, Caitlin Engelhard, Koko Ishizuka, Akiharu Kubo, Sachiko Tsukita, Ann E. Pulver, Kazunori Nakajima, Nicola G. Cascella, Nicholas Katsanis, Akira Sawa

Arch Gen Psychiatry. Author manuscript; available in PMC 2009 Aug 17.

Published in final edited form as: Arch Gen Psychiatry. 2008 Sep; 65(9): 996–1006. doi: 10.1001/archpsyc.65.9.996

PMCID:: PMC2727928

Abstract Article PDF–3.5M

Select item 265577315.

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 258415116.

Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

Christina Gerth, Robert J. Zawadzki, John S. Werner, Elise Héon

Vision Res. Author manuscript; available in PMC 2009 Feb 1.

Published in final edited form as: Vision Res. 2008 Feb; 48(3): 392–399. Published online 2007 Nov 5. doi: 10.1016/j.visres.2007.08.024

PMCID:: PMC2584151

Abstract Article PDF–1.1M

Select item 226519317.

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 214830518.

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 37923419.

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro Iannaccone, Samuel G. Jacobson, Richard G. Weleber, Alan F. Wright, Ruth Riise, Raoul C. M. Hennekam, Güven Lüleci, Sibel Berker-Karauzum, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Am J Hum Genet. 2003 Feb; 72(2): 429–437. Published online 2003 Jan 10. doi: 10.1086/346172

PMCID:: PMC379234

Abstract Article PDF–495K

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