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Items: 1 to 20 of 22

1.
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
2.
Ciliary Hedgehog signaling regulates cell survival to build the facial midline
Shaun R Abrams, Jeremy F Reiter
eLife. 2021; 10: e68558. Published online 2021 Oct 21. doi: 10.7554/eLife.68558
PMCID:
PMC8592574
AbstractArticlePDF–5.0M
3.
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5
Zakia A. Abdelhamed, Dina I. Abdelmottaleb, Mohammed E. El-Asrag, Subaashini Natarajan, Gabrielle Wheway, Chris F. Inglehearn, Carmel Toomes, Colin A. Johnson
Sci Rep. 2019; 9: 5446. Published online 2019 Apr 1. doi: 10.1038/s41598-019-41940-5
PMCID:
PMC6445493
AbstractArticlePDF–4.3M
4.
Genetic link between renal birth defects and congenital heart disease
Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo, Gregory J. Pazour
Nat Commun. 2016; 7: 11103. Published online 2016 Mar 22. doi: 10.1038/ncomms11103
Correction in:
Nat Commun. 2016; 7: 11910.
PMCID:
PMC4804176
AbstractArticlePDF–3.9M
5.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo
Nature. Author manuscript; available in PMC 2015 Nov 28.
Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269
PMCID:
PMC4617540
AbstractArticlePDF–518K
6.
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger
Dis Model Mech. 2015 Jun 1; 8(6): 527–541. doi: 10.1242/dmm.019083
PMCID:
PMC4457033
AbstractArticle
7.
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
Sveva Romani, Barbara Illi, Roberta De Mori, Mauro Savino, Joseph G. Gleeson, Enza Maria Valente
Differentiation. Author manuscript; available in PMC 2015 Mar 11.
Published in final edited form as: Differentiation. 2014 Mar-Apr; 87(0): 134–146. Published online 2014 Mar 6. doi: 10.1016/j.diff.2014.02.005
PMCID:
PMC4355919
AbstractArticlePDF–2.8M
8.
Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways
E Du, Hong Li, Shunying Jin, Xuemei Hu, Mengsheng Qiu, Ruifa Han
Cell Biol Int. Author manuscript; available in PMC 2014 Sep 9.
Published in final edited form as: Cell Biol Int. 2013 Jul; 37(7): 694–702. Published online 2013 Apr 16. doi: 10.1002/cbin.10081
PMCID:
PMC4159072
AbstractArticlePDF–1.1M
9.
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
Amanda C. Leightner, Cynthia J. Hommerding, Ying Peng, Jeffrey L. Salisbury, Vladimir G. Gainullin, Peter G. Czarnecki, Caroline R. Sussman, Peter C. Harris
Hum Mol Genet. 2013 May 15; 22(10): 2024–2040. Published online 2013 Feb 7. doi: 10.1093/hmg/ddt054
PMCID:
PMC3695649
AbstractArticlePDF–1.2M
10.
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Natarajan, Carmel Toomes, Chris Inglehearn, Colin A. Johnson
Hum Mol Genet. 2013 Apr 1; 22(7): 1358–1372. Published online 2013 Jan 2. doi: 10.1093/hmg/dds546
PMCID:
PMC3596847
AbstractArticlePDF–6.5M
11.
Meckelin Is Necessary for Photoreceptor Intraciliary Transport and Outer Segment Morphogenesis
Gayle B. Collin, Jungyeon Won, Wanda L. Hicks, Susan A. Cook, Patsy M. Nishina, Jürgen K. Naggert
Invest Ophthalmol Vis Sci. 2012 Feb; 53(2): 967–974. Published online 2012 Feb 22. doi: 10.1167/iovs.11-8766
PMCID:
PMC3317434
AbstractArticlePDF–4.2M
12.
A meckelin–filamin A interaction mediates ciliogenesis
Matthew Adams, Roslyn J. Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymanska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson
Hum Mol Genet. 2012 Mar 15; 21(6): 1272–1286. Published online 2011 Nov 25. doi: 10.1093/hmg/ddr557
PMCID:
PMC3284117
AbstractArticlePDF–722K
13.
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
14.
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter
Nat Genet. Author manuscript; available in PMC 2012 Feb 1.
Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 776–784. Published online 2011 Jul 3. doi: 10.1038/ng.891
PMCID:
PMC3145011
AbstractArticlePDF–2.3M
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.
The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation
Laura L. Yates, Jenny Papakrivopoulou, David A. Long, Paraskevi Goggolidou, John O. Connolly, Adrian S. Woolf, Charlotte H. Dean
Hum Mol Genet. 2010 Dec 1; 19(23): 4663–4676. Published online 2010 Sep 14. doi: 10.1093/hmg/ddq397
PMCID:
PMC2972698
AbstractArticlePDF–838K
17.
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
Helen R. Dawe, Matthew Adams, Gabrielle Wheway, Katarzyna Szymanska, Clare V. Logan, Angelika A. Noegel, Keith Gull, Colin A. Johnson
J Cell Sci. 2009 Aug 1; 122(15): 2716–2726. Published online 2009 Jul 13. doi: 10.1242/jcs.043794
PMCID:
PMC2909318
AbstractArticle
18.
Meckel-Gruber Syndrome Protein MKS3 Is Required for Endoplasmic Reticulum-associated Degradation of Surfactant Protein C
Mei Wang, James P. Bridges, Cheng-Lun Na, Yan Xu, Timothy E. Weaver
J Biol Chem. 2009 Nov 27; 284(48): 33377–33383. Published online 2009 Oct 8. doi: 10.1074/jbc.M109.034371
PMCID:
PMC2785181
AbstractArticlePDF–1.3M
19.
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
Rachaneekorn Tammachote, Cynthia J. Hommerding, Rachel M. Sinders, Caroline A. Miller, Peter G. Czarnecki, Amanda C. Leightner, Jeffrey L. Salisbury, Christopher J. Ward, Vicente E. Torres, Vincent H. Gattone, II, Peter C. Harris
Hum Mol Genet. 2009 Sep 1; 18(17): 3311–3323. Published online 2009 Jun 10. doi: 10.1093/hmg/ddp272
PMCID:
PMC2733821
AbstractArticlePDF–757K
20.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M

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