Skip Navigation


NDT Advance Access originally published online on February 14, 2008
Nephrology Dialysis Transplantation 2008 23(5):1500-1503; doi:10.1093/ndt/gfn033
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
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 ISI Web of Science
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.
Right arrow Search for Related Content
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]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.For Permissions, please e-mail: 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?