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Select item 109176601.

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

Abstract Article PDF–4.8M

Select item 91348282.

Inv Acts as a Molecular Anchor for Nphp3 and Nek8 in the Proximal Segment of Primary Cilia

Dai Shiba, Danielle K. Manning, Hisashi Koga, David R. Beier, Takahiko Yokoyama

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2022 May 26.

Published in final edited form as: Cytoskeleton (Hoboken). 2010 Feb; 67(2): 112–119. doi: 10.1002/cm.20428

PMCID:: PMC9134828

Abstract Article PDF–724K

Select item 81044073.

Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance

Poppy Datta, J. Thomas Cribbs, Seongjin Seo

PLoS One. 2021; 16(5): e0246358. Published online 2021 May 7. doi: 10.1371/journal.pone.0246358

PMCID:: PMC8104407

Abstract Article PDF–2.2M

Select item 72270284.

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

Abstract Article PDF–5.4M

Select item 60809255.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen

J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117

PMCID:: PMC6080925

Abstract Article PDF–2.8M

Select item 59387036.

Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice

Bin Wang, Yingying Zhang, Hongli Dong, Siyi Gong, Bin Wei, Man Luo, Hongyan Wang, Xiaohui Wu, Wei Liu, Xingshun Xu, Yufang Zheng, Miao Sun

Cell Death Dis. 2018 May; 9(5): 520. Published online 2018 May 3. doi: 10.1038/s41419-018-0563-4

PMCID:: PMC5938703

Abstract Article PDF–1.4M

Select item 53112427.

Tgif1 and Tgif2 Repress Expression of the RabGAP Evi5l

Anoush E. Anderson, Kenichiro Taniguchi, Yi Hao, Tiffany A. Melhuish, Anant Shah, Stephen D. Turner, Ann E. Sutherland, David Wotton

Mol Cell Biol. 2017 Mar 1; 37(5): e00527-16. Prepublished online 2016 Dec 12. Published online 2017 Feb 15. doi: 10.1128/MCB.00527-16

PMCID:: PMC5311242

Abstract Article PDF–3.4M

Select item 52958218.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 50625899.

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

Kollu N. Rao, Wei Zhang, Linjing Li, Cecinio Ronquillo, Wolfgang Baehr, Hemant Khanna

Hum Mol Genet. 2016 May 15; 25(10): 2005–2012. Published online 2016 Mar 2. doi: 10.1093/hmg/ddw075

PMCID:: PMC5062589

Abstract Article PDF–928K

Select item 463500410.

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

Laura E. Yee, Francesc R. Garcia-Gonzalo, Rachel V. Bowie, Chunmei Li, Julie K. Kennedy, Kaveh Ashrafi, Oliver E. Blacque, Michel R. Leroux, Jeremy F. Reiter

PLoS Genet. 2015 Nov; 11(11): e1005627. Published online 2015 Nov 5. doi: 10.1371/journal.pgen.1005627

PMCID:: PMC4635004

Abstract Article PDF–7.7M

Select item 396495511.

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson

Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977

PMCID:: PMC3964955

Abstract Article PDF–5.7M

Select item 384109712.

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

Cheng Cui, Bishwanath Chatterjee, Thomas P. Lozito, Zhen Zhang, Richard J. Francis, Hisato Yagi, Lisa M. Swanhart, Subramaniam Sanker, Deanne Francis, Qing Yu, Jovenal T. San Agustin, Chandrakala Puligilla, Tania Chatterjee, Terry Tansey, Xiaoqin Liu, Matthew W. Kelley, Elias T. Spiliotis, Adam V. Kwiatkowski, Rocky Tuan, Gregory J. Pazour, Neil A. Hukriede, Cecilia W. Lo

PLoS Biol. 2013 Nov; 11(11): e1001720. Published online 2013 Nov 26. doi: 10.1371/journal.pbio.1001720

PMCID:: PMC3841097

Abstract Article PDF–7.4M

Select item 373217513.

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A Otto, Bernhard Schermer, Tomoko Obara, John F O'Toole, Karl S Hiller, Adelheid M Mueller, Rainer G Ruf, Julia Hoefele, Frank Beekmann, Daniel Landau, John W Foreman, Judith A Goodship, Tom Strachan, Andreas Kispert, Matthias T Wolf, Marie F Gagnadoux, Hubert Nivet, Corinne Antignac, Gerd Walz, Iain A Drummond, Thomas Benzing, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2013 Aug 2.

Published in final edited form as: Nat Genet. 2003 Aug; 34(4): 413–420. doi: 10.1038/ng1217

PMCID:: PMC3732175

Abstract Article PDF–795K

Select item 338306514.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 318949215.

Three-dimensional visualisation of testis cord morphogenesis, a novel tubulogenic mechanism in development

Alexander N. Combes, Emmanuelle Lesieur, Vincent R. Harley, Andrew H. Sinclair, Melissa H. Little, Dagmar Wilhelm, Peter Koopman

Dev Dyn. Author manuscript; available in PMC 2011 Oct 9.

Published in final edited form as: Dev Dyn. 2009 May; 238(5): 1033–1041. doi: 10.1002/dvdy.21925

PMCID:: PMC3189492

Abstract Article PDF–2.5M

Select item 317805916.

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 302253417.

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

Abstract Article PDF–3.8M

Select item 293906518.

Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals

Claas Wodarczyk, Gianfranco Distefano, Isaline Rowe, Massimiliano Gaetani, Barbara Bricoli, Mordi Muorah, Andrea Spitaleri, Valeria Mannella, Piero Ricchiuto, Monika Pema, Maddalena Castelli, Ariel E. Casanova, Luca Mollica, Manuela Banzi, Manila Boca, Corinne Antignac, Sophie Saunier, Giovanna Musco, Alessandra Boletta

PLoS One. 2010; 5(9): e12719. Published online 2010 Sep 14. doi: 10.1371/journal.pone.0012719

PMCID:: PMC2939065

Abstract Article PDF–3.2M

Select item 288496719.

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M Louie, Gianluca Caridi, Vanda S Lopes, Francesco Brancati, Andreas Kispert, Madeline A Lancaster, Andrew M Schlossman, Edgar A Otto, Michael Leitges, Hermann-Josef Groene, Irma Lopez, Harini V Gudiseva, John F O’Toole, Elena Vallespin, Radha Ayyagari, Carmen Ayuso, Frans P Cremers, Anneke I den Hollander, Robert K Koenekoop, Bruno Dallapiccola, Gian Marco Ghiggeri, Friedhelm Hildebrandt, Enza Maria Valente, David S Williams, Joseph G Gleeson

Nat Genet. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 175–180. Published online 2010 Jan 17. doi: 10.1038/ng.519

PMCID:: PMC2884967

Abstract Article PDF–790K

Select item 286089320.

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

Frank Zaucke, Joana M. Boehnlein, Sarah Steffens, Roman S. Polishchuk, Luca Rampoldi, Andreas Fischer, Andreas Pasch, Christoph W. A. Boehm, Anne Baasner, Massimo Attanasio, Bernd Hoppe, Helmut Hopfer, Bodo B. Beck, John A. Sayer, Friedhelm Hildebrandt, Matthias T. F. Wolf

Hum Mol Genet. 2010 May 15; 19(10): 1985–1997. Published online 2010 Feb 18. doi: 10.1093/hmg/ddq077