PMC Links for GEO Profiles (Select 20844057) - PMC

Select item 91348281.

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 60809252.

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 41545423.

Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience

Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto, Marwa M. Nabhan, Susan J. Allen, Ahmed M. Badr, Maha Sheba, Sawsan Fadda, Ghada Gawdat, Hassan El-Kiky

Saudi J Kidney Dis Transpl. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: Saudi J Kidney Dis Transpl. 2012 Sep; 23(5): 1090–1098. doi: 10.4103/1319-2442.100968

PMCID:: PMC4154542

Abstract Article PDF–230K

Select item 40675524.

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig Zuppan, Aniko Sabo, Donna Muzny, Richard Gibbs, Pengfei Liu, Richard A. Lewis, Eyal Banin, James R. Lupski, Robin Clark, Nicholas Katsanis

Am J Hum Genet. 2014 May 1; 94(5): 745–754. doi: 10.1016/j.ajhg.2014.03.017

PMCID:: PMC4067552

Abstract Article PDF–1.7M

Select item 38410975.

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 33830656.

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 33425737.

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

Julia Hoefele, Ahmet Nayir, Anita Imm, Susan J. Allen, Edgar A. Otto, Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Pediatr Nephrol. 2011 Jun; 26(6): 967–971. Published online 2011 Jan 22. doi: 10.1007/s00467-011-1761-9

PMCID:: PMC3342573

Abstract Article PDF–1.0M

Select item 31780598.

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 28849679.

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 277836910.

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

Marion Delous, Nathan E. Hellman, Helori-Maël Gaudé, Flora Silbermann, André Le Bivic, Rémi Salomon, Corinne Antignac, Sophie Saunier

Hum Mol Genet. 2009 Dec 15; 18(24): 4711–4723. Published online 2009 Sep 14. doi: 10.1093/hmg/ddp434

PMCID:: PMC2778369

Abstract Article PDF–773K

Select item 13924111.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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