Skip Navigation


NDT Advance Access first published online on February 14, 2008
This version published online on April 3, 2008
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfn033
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
23/5/1500    most recent
gfn033v4
gfn033v3
gfn033v2
gfn033v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Devuyst, O.
Right arrow Articles by Arnould, V. J.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Devuyst, O.
Right arrow Articles by Arnould, V. J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author [2008]. The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions@oxfordjournals.org


Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies*

Olivier Devuyst1 and Véronique J. Arnould2

1 Division of Nephrology, Université catholique de Louvain Medical School, B-1200 Brussels 2 Division of Ophthalmology, Cliniques de l’Europe Saint-Michel, B-1040 Brussels, Belgium

Correspondence and offprint requests to: Oliver Devuyst, Division of Nephrology, Université catholique de Louvain Medical School, B-1200 Brussels, Belgium. E-mail: devuyst@nefr.ucl.ac.be

Keywords: cerebello-oculo-renal syndrome; Joubert syndrome; Leber congenital amaurosis; Meckel syndrome; Senior–Loken syndrome

The first 150 words of the full text of this article appear below.



   Introduction
 
Identification of genes causing inherited cystic kidney diseases has triggered a major interest for the concept of ‘ciliopathies’. Indeed, almost all of the proteins involved in human renal cystic diseases are expressed in the primary cilium complex located in renal epithelial cells. Primary cilia are cellular extensions containing a microtubule-based axoneme covered by a specialized plasma membrane [1]. The basal body of the cilia, which templates the assembly of the microtubules, contains a centriole, which itself is part of the centrosome. Primary cilia project into the lumen, where they probably sense a variety of stimuli involved in the regulation of cell proliferation and differentiation [2]. Primary cilia are present on almost all human cells, explaining why ciliopathies affect multiple organs. However, the molecular mechanisms, potential connections and clinical variability of these diseases remain poorly understood. The study by Delous et al. gives new insights into . . . [Full Text of this Article]



   Clinical and genetic heterogeneity of the Joubert and Meckel syndromes
 


   RPGRIP1L mutations cause JBTS and MKS
 


   Functional characterization of RPGRIP1L
 


   Towards genotype–phenotype correlations?
 


   Conclusion and take-home message
 

Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?