PMC Links for Nucleotide (Select 1243057486) - PMC

Select item 60809251.

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 59387032.

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 52958213.

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 50625894.

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 46350045.

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 37321756.

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 555307.

Nephrocystin interacts with Pyk2, p130^Cas, and tensin and triggers phosphorylation of Pyk2

Thomas Benzing, Peter Gerke, Katja Höpker, Friedhelm Hildebrandt, Emily Kim, Gerd Walz

Proc Natl Acad Sci U S A. 2001 Aug 14; 98(17): 9784–9789. Published online 2001 Aug 7. doi: 10.1073/pnas.171269898

PMCID:: PMC55530

Abstract Article PDF–462K

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