U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from GEO Profiles

Items: 11

1.
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
AbstractArticlePDF–724K
2.
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
AbstractArticlePDF–2.8M
3.
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
AbstractArticlePDF–230K
4.
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
AbstractArticlePDF–1.7M
5.
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
AbstractArticlePDF–7.4M
6.
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
AbstractArticlePDF–2.0M
7.
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
AbstractArticlePDF–1.0M
8.
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
9.
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
AbstractArticlePDF–790K
10.
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
AbstractArticlePDF–773K
11.
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
AbstractArticlePDF–118K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

You are here: NCBI > Literature > PubMed Central (PMC)
Support Center