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Items: 1 to 20 of 35

1.
Bardet–Biedl Syndrome proteins regulate cilia disassembly during tissue maturation
Sarita Rani Patnaik, Viola Kretschmer, Lena Brücker, Sandra Schneider, Ann-Kathrin Volz, Liliana del Rocio Oancea-Castillo, Helen Louise May-Simera
Cell Mol Life Sci. 2019 Feb; 76(4): 757–775. Published online 2018 Nov 16. doi: 10.1007/s00018-018-2966-x
PMCID:
PMC11105770
AbstractArticlePDF–3.0M
2.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
3.
Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency
Huixuan Yue, Shen Li, Jiaxing Qin, Tingting Gao, Jianjun Lyu, Yu Liu, Xiuwei Wang, Zhen Guan, Zhiqiang Zhu, Bo Niu, Rugang Zhong, Jin Guo, Jianhua Wang
Front Neurol. 2021; 12: 579998. Published online 2021 May 19. doi: 10.3389/fneur.2021.579998
PMCID:
PMC8170399
AbstractArticlePDF–3.0M
4.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
5.
GDE5 inhibition accumulates intracellular glycerophosphocholine and suppresses adipogenesis at a mitotic clonal expansion stage
Yuri Okazaki, Keishi Nakamura, Shuto Takeda, Ikumi Yoshizawa, Fumiyo Yoshida, Noriyasu Ohshima, Takashi Izumi, Janet D. Klein, Thanutchaporn Kumrungsee, Jeff M. Sands, Noriyuki Yanaka
Am J Physiol Cell Physiol. 2019 Feb 1; 316(2): C162–C174. Published online 2018 Nov 21. doi: 10.1152/ajpcell.00305.2018
PMCID:
PMC6397339
AbstractArticle
6.
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms
Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz
Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155
PMCID:
PMC5181596
AbstractArticlePDF–1.1M
7.
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins
Rachel D. Starks, Andreas M. Beyer, Deng Fu Guo, Lauren Boland, Qihong Zhang, Val C. Sheffield, Kamal Rahmouni
PLoS Genet. 2015 Jun; 11(6): e1005311. Published online 2015 Jun 23. doi: 10.1371/journal.pgen.1005311
PMCID:
PMC4478011
AbstractArticlePDF–5.2M
8.
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
AbstractArticlePDF–1.8M
9.
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
AbstractArticlePDF–1.6M
10.
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
AbstractArticlePDF–2.3M
11.
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
AbstractArticlePDF–1.6M
12.
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
AbstractArticlePDF–1.0M
13.
Candidate Agtr2 influenced genes and pathways identified by expression profiling in the developing brain of Agtr2−/y mice
Traci L. Pawlowski, Silvia Heringer-Walther, Chun-Huai Cheng, John G. Archie, Chin-Fu Chen, Thomas Walther, Anand K. Srivastava
Genomics. Author manuscript; available in PMC 2011 Aug 31.
Published in final edited form as: Genomics. 2009 Sep; 94(3): 188–195. Published online 2009 Jun 6. doi: 10.1016/j.ygeno.2009.05.011
PMCID:
PMC3164574
AbstractArticlePDF–2.0M
14.
Inactivation of Bardet-Biedl syndrome genes causes kidney defects
Deng-Fu Guo, Andreas M. Beyer, Baoli Yang, Darryl Y. Nishimura, Val C. Sheffield, Kamal Rahmouni
Am J Physiol Renal Physiol. 2011 Feb; 300(2): F574–F580. doi: 10.1152/ajprenal.00150.2010
PMCID:
PMC3043995
AbstractArticle
15.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
16.
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity
Daniel Jagger, Gayle Collin, John Kelly, Emily Towers, Graham Nevill, Chantal Longo-Guess, Jennifer Benson, Karin Halsey, David Dolan, Jan Marshall, Jürgen Naggert, Andrew Forge
Hum Mol Genet. 2011 Feb 1; 20(3): 466–481. Published online 2010 Nov 11. doi: 10.1093/hmg/ddq493
PMCID:
PMC3016908
AbstractArticlePDF–1.2M
17.
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
AbstractArticle
18.
A Novel Glycerophosphodiester Phosphodiesterase, GDE5, Controls Skeletal Muscle Development via a Non-enzymatic Mechanism
Yuri Okazaki, Noriyasu Ohshima, Ikumi Yoshizawa, Yasutomi Kamei, Stefania Mariggiò, Keiko Okamoto, Masahiro Maeda, Yoshihito Nogusa, Yuichiro Fujioka, Takashi Izumi, Yoshihiro Ogawa, Yoshitsugu Shiro, Masanobu Wada, Norihisa Kato, Daniela Corda, Noriyuki Yanaka
J Biol Chem. 2010 Sep 3; 285(36): 27652–27663. Published online 2010 Jun 24. doi: 10.1074/jbc.M110.106708
PMCID:
PMC2934633
AbstractArticlePDF–1.8M
19.
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
AbstractArticlePDF–1009K
20.
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
AbstractArticlePDF–434K

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