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Select item 111139301.

BBS4 directly affects proliferation and differentiation of adipocytes

Olga Aksanov, Pnina Green, Ruth Z. Birk

Cell Mol Life Sci. 2014 Sep; 71(17): 3381–3392. Published online 2014 Feb 6. doi: 10.1007/s00018-014-1571-x

PMCID:: PMC11113930

Abstract Article PDF–1.2M

Select item 86109572.

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation

Miriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, Giancarlo Blasio, Annalaura Torella, Andrea Melluso, Giovanna Capolongo, Rosa Maria Pollastro, Giulio Piluso, Valentina Di Iorio, Francesca Simonelli, Davide Viggiano, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso

J Nephrol. 2021; 34(6): 1855–1874. Published online 2021 May 8. doi: 10.1007/s40620-021-01048-4

PMCID:: PMC8610957

Abstract Article PDF–927K

Select item 75732773.

The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells

Avishek Prasai, Marketa Schmidt Cernohorska, Klara Ruppova, Veronika Niederlova, Monika Andelova, Peter Draber, Ondrej Stepanek, Martina Huranova

J Biol Chem. 2020 Oct 16; 295(42): 14279–14290. Published online 2020 Aug 5. doi: 10.1074/jbc.RA120.013905

PMCID:: PMC7573277

Abstract Article PDF–4.0M

Select item 55752784.

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1

Victoria Prieto-Echagüe, Sukanya Lodh, Laura Colman, Natalia Bobba, Leonardo Santos, Nicholas Katsanis, Carlos Escande, Norann A. Zaghloul, Jose L. Badano

Sci Rep. 2017; 7: 9765. Published online 2017 Aug 29. doi: 10.1038/s41598-017-10330-0

PMCID:: PMC5575278

Abstract Article PDF–7.6M

Select item 54991395.

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy

Tracy Chew, Bianca Haase, Roslyn Bathgate, Cali E. Willet, Maria K. Kaukonen, Lisa J. Mascord, Hannes T. Lohi, Claire M. Wade

G3 (Bethesda) 2017 Jul; 7(7): 2327–2335. Published online 2017 May 22. doi: 10.1534/g3.117.043109

PMCID:: PMC5499139

Abstract Article PDF–1.3M

Select item 44935976.

BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors

Qingwen Xu, Yuxia Zhang, Qing Wei, Yan Huang, Yan Li, Kun Ling, Jinghua Hu

Sci Rep. 2015; 5: 11855. Published online 2015 Jul 7. doi: 10.1038/srep11855

PMCID:: PMC4493597

Abstract Article PDF–2.1M

Select item 40353377.

BBS4 Is Necessary for Ciliary Localization of TrkB Receptor and Activation by BDNF

Carmen C. Leitch, Norann A. Zaghloul

PLoS One. 2014; 9(5): e98687. Published online 2014 May 27. doi: 10.1371/journal.pone.0098687

PMCID:: PMC4035337

Abstract Article PDF–1.1M

Select item 39236838.

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 32503769.

Exome capture sequencing identifies a novel mutation in BBS4

Hui Wang, Xianfeng Chen, Lynn Dudinsky, Claire Patenia, Yiyun Chen, Yumei Li, Yue Wei, Emad B. Abboud, Ali A. Al-Rajhi, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Richard A. Gibbs, Brian D. Perkins, Rui Chen

Mol Vis. 2011; 17: 3529–3540. Published online 2011 Dec 30.

PMCID:: PMC3250376

Abstract Article PDF–4.6M

Select item 272792810.

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 42325211.

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 38499012.

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

Select item 407528313.

Autophagy Promotes Primary Ciliogenesis by Removing OFD1 from Centriolar Satellites

Zaiming Tang, Mary Grace Lin, Timothy R. Stowe, She Chen, Muyuan Zhu, Tim Stearns, Brunella Franco, Qing Zhong

Nature. Author manuscript; available in PMC 2014 Jun 30.

Published in final edited form as: Nature. 2013 Oct 10; 502(7470): 254–257. Published online 2013 Oct 2. doi: 10.1038/nature12606

PMCID:: PMC4075283

Abstract Article PDF–2.6M

Select item 400154214.

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

Yangfan P. Liu, I-Chun Tsai, Manuela Morleo, Edwin C. Oh, Carmen C. Leitch, Filomena Massa, Byung-Hoon Lee, David S. Parker, Daniel Finley, Norann A. Zaghloul, Brunella Franco, Nicholas Katsanis

J Clin Invest. 2014 May 1; 124(5): 2059–2070. Published online 2014 Apr 1. doi: 10.1172/JCI71898

PMCID:: PMC4001542

Abstract Article PDF–3.8M

Select item 197623815.

Mechanism of positioning the cell nucleus in vertebrate photoreceptors

Motokazu Tsujikawa, Yoshihiro Omori, Janisha Biyanwila, Jarema Malicki

Proc Natl Acad Sci U S A. 2007 Sep 11; 104(37): 14819–14824. Published online 2007 Sep 4. doi: 10.1073/pnas.0700178104

PMCID:: PMC1976238

Abstract Article PDF–1.2M

Select item 903467516.

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup

Mol Genet Genomic Med. 2022 May; 10(5): e1869. Published online 2022 Mar 23. doi: 10.1002/mgg3.1869

PMCID:: PMC9034675

Abstract Article PDF–923K

Select item 803314817.

Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome

Ying Hsu, Seongjin Seo, Val C Sheffield

Hum Mol Genet. 2021 Jan 1; 30(1): 87–102. Published online 2021 Jan 30. doi: 10.1093/hmg/ddaa284

PMCID:: PMC8033148

Abstract Article PDF–1.9M

Select item 769545518.

Islet vascularization is regulated by primary endothelial cilia via VEGF-A-dependent signaling

Yan Xiong, M Julia Scerbo, Anett Seelig, Francesco Volta, Nils O'Brien, Andrea Dicker, Daniela Padula, Heiko Lickert, Jantje Mareike Gerdes, Per-Olof Berggren

eLife. 2020; 9: e56914. Published online 2020 Nov 17. doi: 10.7554/eLife.56914

PMCID:: PMC7695455

Abstract Article PDF–8.3M

Select item 766735619.

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Piero Pavone, Xena Giada Pappalardo, Simona D. Marino, Laura Sciuto, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Maria Piccione, Raffaele Falsaperla

Mol Genet Genomic Med. 2020 Nov; 8(11): e1461. Published online 2020 Sep 18. doi: 10.1002/mgg3.1461