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PMID: 21962508 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Modeling human disease in humans: the ciliopathies.

Cell ·Vol. 147 ·No. 1 ·2011-09-30 ·Pages 70-9

Novarino G, Akizu N, Gleeson JG

Abstract

Soon, the genetic basis of most human Mendelian diseases will be solved. The next challenge will be to leverage this information to uncover basic mechanisms of disease and develop new therapies. To understand how this transformation is already beginning to unfold, we focus on the ciliopathies, a class of multi-organ diseases caused by disruption of the primary cilium. Through a convergence of data involving mutant gene discovery, proteomics, and cell biology, more than a dozen phenotypically distinguishable conditions are now united as ciliopathies. Sitting at the interface between simple and complex genetic conditions, these diseases provide clues to the future direction of human genetics.

MeSH Terms
Animals Cilia/genetics Ciliary Motility Disorders/genetics Disease/genetics Humans Syndrome
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Novarino Gaia
Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla 92093, USA.
Akizu Naiara
Gleeson Joseph G
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Article Info
Journal
Cell
Abbr.
Cell
ISSN
1097-4172
DOI
10.1016/j.cell.2011.09.014
Published
2011-09-30
Pages
70-9
Language
English
Region
United States
NLM ID
0413066
PMCID
PMC3202432
Subset
IM
Grants
NINDS NIH HHS · P30NS047101 · United States
NICHD NIH HHS · P01 HD070494-02 · United States
Howard Hughes Medical Institute · United States
NINDS NIH HHS · R01 NS041537 · United States
NINDS NIH HHS · R01 NS048453 · United States
NINDS NIH HHS · R01 NS048453-06A2 · United States
NINDS NIH HHS · R01 NS052455-06 · United States
NICHD NIH HHS · P01HD070494 · United States
NINDS NIH HHS · R01NS048453 · United States
NINDS NIH HHS · P30 NS047101 · United States
NINDS NIH HHS · R01 NS052455 · United States
NICHD NIH HHS · P01 HD070494 · United States
NINDS NIH HHS · R01NS041537 · United States
NINDS NIH HHS · R01NS052455 · United States
External Links
PubMed source DOI: 10.1016/j.cell.2011.09.014 PMC Full Text View journal details
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