PMC Links for GEO Profiles (Select 26374213) - PMC

Select item 58976011.

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 54974642.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

Izak J Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Trine E Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns, Deborah J Morris-Rosendahl

Hum Mutat. Author manuscript; available in PMC 2017 Jul 5.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 237–247. Published online 2012 Oct 17. doi: 10.1002/humu.22224

PMCID:: PMC5497464

Abstract Article PDF–739K

Select item 48732093.

OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models

Juan Wang, Xin Chen, Fang Wang, Jieping Zhang, Peng Li, Zongyi Li, Jingying Xu, Furong Gao, Caixia Jin, Haibin Tian, Jingfa Zhang, Weiye Li, Lixia Lu, Guo-Tong Xu

PLoS One. 2016; 11(5): e0155860. Published online 2016 May 19. doi: 10.1371/journal.pone.0155860

PMCID:: PMC4873209

Abstract Article PDF–11M

Select item 40752834.

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 39260465.

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 36971006.

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 34067597.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Tom R. Webb, David A. Parfitt, Jessica C. Gardner, Ariadna Martinez, Dalila Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, Jacob H.C. Ressa, Marina Apergi, Nele Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle

Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194

PMCID:: PMC3406759

Abstract Article PDF–218K

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 31022909.

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

Lis Jakobsen, Katja Vanselow, Marie Skogs, Yusuke Toyoda, Emma Lundberg, Ina Poser, Lasse G Falkenby, Martin Bennetzen, Jens Westendorf, Erich A Nigg, Mathias Uhlen, Anthony A Hyman, Jens S Andersen

EMBO J. 2011 Apr 20; 30(8): 1520–1535. Published online 2011 Mar 11. doi: 10.1038/emboj.2011.63

PMCID:: PMC3102290

Abstract Article PDF–1.3M

Select item 284106410.

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 275655711.

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

Am J Hum Genet. 2009 Oct 9; 85(4): 465–481. doi: 10.1016/j.ajhg.2009.09.002

PMCID:: PMC2756557

Abstract Article PDF–2.7M

Select item 256450412.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

C Thauvin‐Robinet, M Cossée, V Cormier‐Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier

J Med Genet. 2006 Jan; 43(1): 54–61. doi: 10.1136/jmg.2004.027672

PMCID:: PMC2564504

Abstract Article PDF–498K

Select item 204356613.

Functional Characterization of the OFD1 Protein Reveals a Nuclear Localization and Physical Interaction with Subunits of a Chromatin Remodeling Complex

Giovanna Giorgio, Mariaevelina Alfieri, Clelia Prattichizzo, Alessandro Zullo, Stefano Cairo, Brunella Franco

Mol Biol Cell. 2007 Nov; 18(11): 4397–4404. doi: 10.1091/mbc.E07-03-0198

PMCID:: PMC2043566

Abstract Article PDF–491K

Select item 173510314.

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

A Rakkolainen, S Ala-Mello, P Kristo, A Orpana, I Jarvela

J Med Genet. 2002 Apr; 39(4): 292–296. doi: 10.1136/jmg.39.4.292

PMCID:: PMC1735103

Summary PDF–172K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 14

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity