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Select item 28938111.

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

Alessandro Zullo, Daniela Iaconis, Adriano Barra, Alessandra Cantone, Nadia Messaddeq, Giovanbattista Capasso, Pascal Dollé, Peter Igarashi, Brunella Franco

Hum Mol Genet. 2010 Jul 15; 19(14): 2792–2803. Published online 2010 May 5. doi: 10.1093/hmg/ddq180

PMCID:: PMC2893811

Abstract Article PDF–767K

Select item 12744702.

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Maria I. Ferrante, Giovanna Giorgio, Sally A. Feather, Alessandro Bulfone, Victoria Wright, Michela Ghiani, Angelo Selicorni, Linda Gammaro, Francesco Scolari, Adrian S. Woolf, Odent Sylvie, Le Marec Bernard, Sue Malcolm, Robin Winter, Andrea Ballabio, Brunella Franco

Am J Hum Genet. 2001 Mar; 68(3): 569–576. Published online 2001 Feb 13. doi: 10.1086/318802

PMCID:: PMC1274470

Abstract Article PDF–1.2M

Select item 54306653.

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

Daniela Iaconis, Maria Monti, Mario Renda, Arianne van Koppen, Roberta Tammaro, Marco Chiaravalli, Flora Cozzolino, Paola Pignata, Claudia Crina, Piero Pucci, Alessandra Boletta, Vincenzo Belcastro, Rachel H. Giles, Enrico Maria Surace, Simone Gallo, Mario Pende, Brunella Franco

Sci Rep. 2017; 7: 1224. Published online 2017 Apr 27. doi: 10.1038/s41598-017-01156-x

PMCID:: PMC5430665

Abstract Article PDF–2.9M

Select item 28410644.

Ofd1, a human disease gene, regulates the length and distal structure of centrioles

Veena Singla, Miriam Romaguera-Ros, Jose Manuel Garcia-Verdugo, Jeremy F. Reiter

Dev Cell. Author manuscript; available in PMC 2011 Mar 16.

Published in final edited form as: Dev Cell. 2010 Mar 16; 18(3): 410–424. doi: 10.1016/j.devcel.2009.12.022

PMCID:: PMC2841064

Abstract Article PDF–4.3M

Select item 59593365.

The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts

Andreas Struchtrup, Antonia Wiegering, Björn Stork, Ulrich Rüther, Christoph Gerhardt

Autophagy. 2018; 14(4): 567–583. Published online 2018 Feb 21. doi: 10.1080/15548627.2018.1429874

PMCID:: PMC5959336

Abstract Article PDF–1.6M

Select item 36358706.

The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling

Roman H Khonsari, Maisa Seppala, Alan Pradel, Hugo Dutel, Gaël Clément, Oleg Lebedev, Sarah Ghafoor, Michaela Rothova, Abigael Tucker, John G Maisey, Chen-Ming Fan, Maiko Kawasaki, Atsushi Ohazama, Paul Tafforeau, Brunella Franco, Jill Helms, Courtney J Haycraft, Albert David, Philippe Janvier, Martyn T Cobourne, Paul T Sharpe

BMC Biol. 2013; 11: 27. Published online 2013 Mar 28. doi: 10.1186/1741-7007-11-27

Correction in:: BMC Biol. 2013; 11: 70.

PMCID:: PMC3635870

Abstract Article PDF–2.0M

Select item 31287787.

The Ciliogenic Protein Oral-Facial-Digital 1 Regulates the Neuronal Differentiation of Embryonic Stem Cells

Julie Hunkapiller, Veena Singla, Allen Seol, Jeremy F. Reiter

Stem Cells Dev. 2011 May; 20(5): 831–841. Published online 2010 Sep 27. doi: 10.1089/scd.2010.0362

PMCID:: PMC3128778

Abstract Article PDF–1.0M

Select item 40015428.

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 36971009.

Fuz Mutant Mice Reveal Shared Mechanisms between Ciliopathies and FGF-Related Syndromes

Jacqueline M. Tabler, William B. Barrell, Heather L. Szabo-Rogers, Christopher Healy, Yvonne Yeung, Elisa Gomez Perdiguero, Christian Schulz, Basil Z. Yannakoudakis, Aida Mesbahi, Bogdan Wlodarczyk, Frederic Geissmann, Richard H. Finnell, John B. Wallingford, Karen J. Liu

Dev Cell. 2013 Jun 24; 25(6): 623–635. doi: 10.1016/j.devcel.2013.05.021

PMCID:: PMC3697100

Abstract Article PDF–4.2M

Select item 407528310.

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 512391911.

Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease

Hila Milo Rasouly, Sudhir Kumar, Stefanie Chan, Anna Pisarek-Horowitz, Richa Sharma, Qiongchao J. Xi, Yuriko Nishizaki, Yujiro Higashi, David J. Salant, Richard L. Maas, Weining Lu

Kidney Int. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Kidney Int. 2016 Dec; 90(6): 1262–1273. Published online 2016 Aug 31. doi: 10.1016/j.kint.2016.06.037

PMCID:: PMC5123919

Abstract Article PDF–2.1M

Select item 178523912.

Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1

Zakir Hossain, Safiah Mohamed Ali, Hui Ling Ko, Jianliang Xu, Chee Peng Ng, Ke Guo, Zeng Qi, Sathivel Ponniah, Wanjin Hong, Walter Hunziker

Proc Natl Acad Sci U S A. 2007 Jan 30; 104(5): 1631–1636. Published online 2007 Jan 24. doi: 10.1073/pnas.0605266104

PMCID:: PMC1785239

Abstract Article PDF–906K

Select item 353133413.

Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development

Anna D'Angelo, Amalia De Angelis, Bice Avallone, Immacolata Piscopo, Roberta Tammaro, Michèle Studer, Brunella Franco

PLoS One. 2012; 7(12): e52937. Published online 2012 Dec 27. doi: 10.1371/journal.pone.0052937

PMCID:: PMC3531334

Abstract Article PDF–2.8M

Select item 392604614.

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

Xuan Ye, Huiqing Zeng, Gang Ning, Jeremy F. Reiter, Aimin Liu

Proc Natl Acad Sci U S A. 2014 Feb 11; 111(6): 2164–2169. Published online 2014 Jan 27. doi: 10.1073/pnas.1318737111

PMCID:: PMC3926046

Abstract Article PDF–1.2M

Select item 589760115.

Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse

Chengbing Wang, Jia Li, Ken-Ichi Takemaru, Xiaogang Jiang, Guoqiang Xu, Baolin Wang

Development. 2018 Mar 15; 145(6): dev164236. doi: 10.1242/dev.164236

PMCID:: PMC5897601

Abstract Article

Select item 297269816.

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

Abstract Article PDF–838K

Select item 16551117.

BayGenomics: a resource of insertional mutations in mouse embryonic stem cells

Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin

Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064

PMCID:: PMC165511

Abstract Article PDF–217K

Select item 141356818.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 793877019.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 1683320.

Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray

Tetsuya S. Tanaka, Saied A. Jaradat, Meng K. Lim, George J. Kargul, Xiaohong Wang, Marija J. Grahovac, Serafino Pantano, Yuri Sano, Yulan Piao, Ramaiah Nagaraja, Hirofumi Doi, William H. Wood, III, Kevin G. Becker, Minoru S. H. Ko

Proc Natl Acad Sci U S A. 2000 Aug 1; 97(16): 9127–9132. doi: 10.1073/pnas.97.16.9127

PMCID:: PMC16833

Abstract Article PDF–847K

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