TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
23 January 2011
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| In: |
Nature genetics
Year: 2011, Jahrgang: 43, Heft: 3, Pages: 189-196 |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/ng.756 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.756 Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.756 
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| Verfasserangaben: | Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa M. Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora R. Lewis, Praveen Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, Gabor Gyapay, Susanne Rieger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hulya Kayserili, Tomas E. Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter J. Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié-Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce & Nicholas Katsanis |
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| 520 | |a Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases, supporting an oligogenic model of disease. | ||
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